(P867) “I worry I don’t have control”: The psychosocial impacts of living with a hereditary cancer syndrome
Wednesday, 4:00 pm - 11:59 pm
Brooklyn A. Sparkes, BA; Jordan Sam, MHSc; Marc Clausen, MA; Carly Butkowsky, HBSc; Emma Reble, MSc; Sepideh Rajeziesfahani, MSc; Ridhi Gopalakrishnan, HBSc(IPR); Vernie Aguda, MSc; Melyssa Aronson, CGC; Derrick Bishop, NA; Lesa Dawson, MD; Andrea Eisen, MD; Tracy Graham, CGC; Jane Green, PhD, OC ONL, Hon FCCMG, FCAHS; Chloe Mighton, MSc; Julee Pauling, NA; Claudia Pavao, NA; Petros Pechlivanoglou, PhD; Catriona Remocker, PhD(c), RCC; Sevtap Savas, PhD; Sophie Sun, MD; Teresa Tiano, NA; Angelina Tilley, NA; Kevin E. Thorpe, MMath; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Yvonne Bombard, PhD; Holly Etchegary, PhD
(P873) “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings
Wednesday, 4:00 pm - 11:59 pm
Abigail Hansen, BSc; Stephanie Luca, MA; Olivia M. Moran, MSc, MSc; Riyana Babul-Hirji, MSc; Joyce Yan, HBSc; Katharine Fooks, BSc,MSc; Viji Venkataramanan, MSc; Wendy J. Ungar, MSc, PhD; Robin Z. Hayeems, ScM, PhD; Secondary Findings Study Team, N/A; Abigail Hansen, BSc; Stephanie Luca, MA; Olivia M. Moran, MSc, MSc; Riyana Babul-Hirji, MSc; Joyce Yan, HBSc; Katharine Fooks, BSc,MSc; Viji Venkataramanan, MSc; Elise Poole, MHSc; Daniel Assamad, MHSc; Pooja Banglorewala, BSc; Lydia Vermeer, MSc; Christian R. Marshall, PhD, FACMG, FCCMG; Meredith K. Gillespie, MSc; Anna Szuto, MSc; Caitlin Chisholm, MSc; James Stavropoulos, BSc, MSc, PhD, FCCMG; Lijia Huang, PhD; FCCMG; Olga jarinova, PhD; FCCMG; Lynette YS. Lau, MSc; Whiwon Lee, MS, CGC; Lauren Badalato, MS, MD, BS; Tugce B. Balci, MD, FRCPC, FCCMG; Lauren Chad, MD; Cara Inglese, MSc, CGC; Virginie B. Ladouceur, MD; Michael P. Mackley, MD, DPhil; Chantal F. Morel, BSc, MD, FRCPC; Julie Richer, MD; Mark Tarnopolsky, MD, PhD; Anita Villani, MD, MSc; Laura Zahavich, M.Sc., CGC; Sarah L. Sawyer, MD/PhD; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC; Martin J. Somerville, MSc, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Wendy J. Ungar, MSc, PhD; Robin Z. Hayeems, ScM, PhD
(P892) “Should I let them know I have this?”: Concerns and experiences of genetic discrimination amongst individuals with hereditary cancer syndromes
Wednesday, 4:00 pm - 11:59 pm
Emma Reble, MSc; Ridhi Gopalakrishnan, HBSc(IPR); Jordan Sam, MHSc; Carly Butkowsky, HBSc; Marc Clausen, MA; Sepideh Rajeziesfahani, PhD; Brooklyn A. Sparkes, BA; Vernie Aguda, MSc, MS; Melyssa Aronson, CGC; Derrick Bishop, NA; Lesa Dawson, MD; Andrea Eisen, MD; Tracy Graham, CGC; Jane Green, PhD, OC ONL, Hon FCCMG, FCAHS; Chloe Mighton, MSc; Julee Pauling, NA; Claudia Pavao, NA; Petros Pechlivanoglou, PhD; Catriona Remocker, PhD(c), RCC; Sevtap Savas, PhD; Sophie Sun, MD; Teresa Tiano, NA; Angelina Tilley, NA; Kevin E. Thorpe, MMath; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Holly Etchegary, PhD; Yvonne Bombard, PhD
(P857) Medical genetics and genomics residents’ perceptions of their gaps in knowledge regarding the clinical intersections of race and racism.
Wednesday, 4:00 pm - 11:59 pm
Justin L. Gomez-Stafford, MS; Daphne O. Martschenko, PhD; David A. Stevenson, MD, FACMG; Christina G. Tise, MD, PhD; MaryAnn W. Campion, Stanford University Division of Medical Genetics; Annie D. Niehaus, MD; Jemal Vaunado, II, MS; Bryce C. Murray, MS; Cheyla Clark, MS
(P214) SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for childen with developmental differences.
Wednesday, 4:00 pm - 11:59 pm
Katrina M. Dipple, MD, PhD; Daniel Doherty, MD; Kaylin Anderson, MS; Olivia Sommers, MS; Tara L. Wenger, MD, PhD; Kate MacDuffie, PhD; Alexandra C. Keefe, MD, PhD; Abbey A. Scott, MS, CGC; Luke D. Kruidenier, MS CGC; Jamie Love-Nichols, MS; heide Gildersleeve, BS; Chayna Davis, PhD; Kati Buckingham, BS; Jessica Chong, PhD; David L. Veenstra, PharmD, PhD; Danny E. Miller, MD, PhD; Deborah Copenheaver, MS; Jane Juusola, PhD, FACMG; Kyle Retterer, MS; Kirsty McWalter, MS, CGC; Paul Kruszka, MD; Joon-Ho Yu, PhD; Michael Bamshad, MD, FACMG
(P624)
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
Wednesday, 4:00 pm - 11:59 pm
Erin Thorpe, MS, CGC; Milagros M. Duenas-Roque, MD; Mario Cornejo-Olivas, MD; Jeny Bazalar-Montoya, MD; Nelson Purizaca-Rosillo, MD; Richard S. Rodriguez, MD; Karina Milla-Neyra, BS; Carlos De La Torre-Hernandez, MD; Elison Sarapura-Castro, MD; Carolina Galarreta Aima, MD; Gioconda Manassero-Morales, MD; Giulliana Chávez-Pasco, MD; Luis Celis-García, MD; Jorge La Serna, MD; Ryan J. Taft, PhD
(P403)
Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND-1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes
Wednesday, 4:00 pm - 11:59 pm
Meg M. Hager, MS, MPH, CGC; Nour Baddar, PhD; Sumit Punj, PhD, FACMG; Emily Hendricks, MSGC, LGC; Tessa Pitman, MS, CGC; Lauren Zec, MS, CGC; Alexa Bacher, MS; Quinn Stein, MS, CGC; Ryan Mascarenhas, MD; Robin Larson, MS, (MLS) ASCP; Maggie Westemeyer, MS, CGC; Kristen Connors, MS; Jennifer Stoddard, MD
(P110)
Case Report of APC Promoter 1B Deletion Associated with Classic FAP
Wednesday, 4:00 pm - 11:59 pm
Mary O'Connor, MSSW, LCGC; Daniel Groepper, LGC; Julie Fleischer, MD
(P269)
The Genetic Prevalence of Molybdenum Cofactor Deficiency as a Result of MOCS1 and MOCS2: A Genetics and Biostatistics Perspective
Wednesday, 4:00 pm - 11:59 pm
Ishita Patel, Undergraduate Student; Ethan Su, Undergraduate Student; Katreya Lovrenert, BS; Donald Bodner, MD; Fredrick R. Schumacher, PHD, MPH; Chen-Han W. Wu, MD, PhD
(P297) More than an extra chromosome: unexpected multiple diagnoses in individuals with Down syndrome
Wednesday, 4:00 pm - 11:59 pm
Liesbeth Vossaert, PhD, FACMG; Lorraine Potocki, MD; Seema Lalani, MD; Liz Mizerik, MS; Nichole Owen, PhD, FACMG; Xiaonan Zhao, PhD, FACMG; Eric C. Kao, PhD; Hongzheng Dai, Ph.D, FACMG; Monika Weisz-Hubshman, MD PhD
(P833) A novel cardiac genetic knowledge scale: Development and evaluation of face validity and concept validity
Wednesday, 4:00 pm - 11:59 pm
Susan Christian, Susan Christian; Amy Baker, MSc; Tara Dzwiniel, MSc; Kennedy Borle, MSGC, CGC; Roya Mostafavi, MS CGC; Hannah Wand, MS; Jill Slamon, MS CGC; Barbara Biesecker, MS PhD; Laura Yeates, MSc
(P098) CHEK2 Variants Contributing to Hereditary Breast Cancer in Pakistan: A Tertiary Healthcare Centre Experience
Wednesday, 4:00 pm - 11:59 pm
Aushna Saleem, B.S.; Fizza Akbar, BSc, MSc; Mahrukh Nasir, MSc; Salman Kirmani, Dr., MBBS, FACMG; Bassim Zahid, BSc
(P143) Clinical Investigation of Bleeding Diatheses in Patients with Hermansky-Pudlak Syndrome
Wednesday, 4:00 pm - 11:59 pm
Christopher B. Song, BA, MA; Wendy J. Introne, M.D; Kevin O'Brien, RN, MS-CRNP; Srikar Kuppa, MD; Thomas C. Markello, MD PhD; William A. Gahl, MD, Ph.D; May Christine V. Malicdan, M.D PhD; Allan Alexander, MD
(P428) De novo Truncating Variants in ZNF865 – a Putative Cause of a Neurodevelopmental Disorder
Wednesday, 4:00 pm - 11:59 pm
Sam Bradbrook, MD; Gail E. Graham, MSc, MD, FRCPC, FCCMG; Melissa T. Carter, MSc, MD, FRCPC, FCCMG; Maria Kibaek, Geneticist; Martin J. Larsen, MSc, PhD; Christina R. Fagerberg, MD; Katherine Dawson, MD; Cheryl Meuter, LGC; Alexander Pepler, PhD; Thomas Besnard, PhD; Bertrand Isidor, MD, PhD; Stéphane Bezieau, Professor; Benjamin Cogné, PhD; Marie Vincent, MD; Katherine Bjorgo, Consultant; Thomas Courtin, Chef de clinique (Médecin); Lisa T. Emrick, MD; Jill A. Rosenfeld, MS; Undiagnosed Diseases Network, National Institutes of Health; Julian A. Martinez-Agosto, MD, PhD, FACMG; Mathilde Heulin, Geneticist; Gilles Morin, Geneticist; Pauline Monin, Assistante - Chef de clinique; Louis Januel, Lab Geneticist; Marie-Noëlle Bonnet-Dupeyron, Clinical Geneticist; Mathilde Pujalte, Lab Geneticist; Julien E. Marcadier, MSc, MD, FRCPC, FCCMG; Kim Worley, PhD; Monika Weisz-Hubshman, MD, PhD; Patricia I. Dickson, MD; Michelle L. Thompson, PhD
(P654) Genetic Counselor Involvement Increases the Uptake and Success of Familial Studies in Variant Re-classification for Disorders of Hemostasis
Wednesday, 4:00 pm - 11:59 pm
Dominika A. Bajguz, MS, CGC; Anna Miller, PhD; Stefanie B. Dugan, MS, CGC; Juliana Perez Botero, MD; Valerie Trapp-Stamborski, PhD; Jacquelyn Riley, MS, CGC
(P075) HMGCR expression in BCC and adjacent non-malignant skin
Wednesday, 4:00 pm - 11:59 pm
Mina H. Tabrizi, M.D., Ph.D.; Ali Mamivand, M.Sc.; Abolfazl Maghrouni, M.Sc.; Sasan Shabani, M.Sc.; Shiva Bayat, M.Sc.; Javad Rahmati, M.D.; Pedram Nourmohammadpour, M.D.; Kambiz Kamyab-Hesari, M.D.; Maryam Daneshpazhooh, M.D.; Susan B. Olson, Ph.D.
(P661) JAK2 Exon 12-15, CALR and MPL Essential MPN NGS Panel
Wednesday, 4:00 pm - 11:59 pm
Li Cai, PhD; Danny Overman, BS; Carrie Wilson, BS; Binbin Huang, PhD; Dan Wang, PhD; Ying Wang, MD, PhD; Jodie William, BS; Melissa Calvert, BS; Caron Glotzbach, BS; Lauren Kam-Morgan, PhD; Anjen Chenn, MD, PhD
(P233) PKD1 Hypomorphic Variant in a Girl with Tuberous Sclerosis Complex and Polycystic Kidneys
Wednesday, 4:00 pm - 11:59 pm
Jennifer E. Glass, CGC; Jie Liu, PhD; Subba Indugula, PHD; Darcy Krueger, MD, PhD; David Ritter, MD, PhD
(P711) PMS2 in Somatic Oncology Testing – Real or Pseudogene interference?
Wednesday, 4:00 pm - 11:59 pm
Lindsey Waltman, MS; Kandelaria M. Rumilla, MD; Hussam Al Kateb, PhD
(P089) POLE AND Brain Tumors- Case Report and Review of the Medical Literature
Wednesday, 4:00 pm - 11:59 pm
Joyce Turner, MS; Natalie Morton, BSN, RN; Kasey Jackson, MD; Emily Moses, MD; Kate Mazur, MSN, APRN, CPNP-PC; Dorothy Davis, MSN, APRN, CPNP-PC; John Myseros, MD; Roger Packer, MD; Eugene Hwange, MD; Miriam Bornhorst, MD
(P283) SATB1-Related Disorder Secondary to Chromothripsis
Wednesday, 4:00 pm - 11:59 pm
Abigail O. Kacpura, DO; Tyler Tribble, MS, CGC
(P731) TERT Gene Promoter Region Mutation Analysis in Glioma Using Multiplex SNaPshot® Method
Wednesday, 4:00 pm - 11:59 pm
Li Cai, PhD; Danny Overman, BS; Dan Wang, PhD; Ying Wang, MD, PhD; Lauren Kam-Morgan, PhD; Anjen Chenn, MD, PhD; Sophia Winger, BS
(P066) TP53 Variant Characteristics and Phenotypes of 96 Families Evaluated at an Academic Medical Center
Wednesday, 4:00 pm - 11:59 pm
Colby L. Chase, MS, CGC; Liliana Arida-Moody, BS; Michelle F. Jacobs, MS, CGC
(P222) TTN Truncating Variants Are Enriched in Cardiomyopathy/Arrhythmia and Neuromuscular Cases and M-Band Exon 358 Contributes to Primary Cardiomyopathy/Arrhythmia
Wednesday, 4:00 pm - 11:59 pm
Ellen Regalado, MS, PhD; Dan Swartzlander, PhD; Andrea Nagl, MS, CGC; Meghan Mannello, MS, CGC; Rachel Lewis, MS; Daniel Clemens, PhD; John Garcia, PhD; Ana Morales, MS, CGC; Yi-Lee Ting, MS, CGC; Matteo Vatta, PhD
(P257) Sleep Correlates of Behavior Functioning in Cornelia de Lange Syndrome
Wednesday, 4:00 pm - 11:59 pm
Rowena Ng RN. Ng, PhD; Julia O’Connor, PhD; Deirdre Summa, L.M.S.W.; Antonie D. Kline, MD
(P582) CSMD1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders
Wednesday, 4:00 pm - 11:59 pm
Yunjia Chen, PhD, MBA, FACMG; Anna CE. Hurst, MD, MS, FACMG; Andrew J. Carroll, PhD, FACMG; Fady M. Mikhail, MD, PhD, FACMG; Angela R. Seasely, MD, MS
(P588) De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome characterized by Hypotonia, Epilepsy, and Short stature
Wednesday, 4:00 pm - 11:59 pm
kevin Booth, PhD; Sharayu V. Jangam, MSc; Martin MC. Chui, PhD; Kayla Treat, MSc; Lorenzo Graziani, PhD; Alessia Soldano, PhD; Kerry White, MSc; Celanie K. Christensen, MD; Ty Lynnes, MSc; Shinya Yamamoto, PhD; Oguz Kanca, PhD; Mandy HY. Tsang, MD; Sally A. Lynch, MD; Sureni V. Mullegama, PhD; Julia Baptista, MSc; Daniela Iancu, MD; Shelag K. Joss, MD; Christopher CY. Mak, MD; Anna Y. Kwong, MD; Hugo V. Bellen, PhD; Erin MC. Conboy, MD; Remo Sanges, PhD; Michael F. Wangler F. Wangler, MD; Brian HY. Chung, MD; Francesco Vetrini, PhD, FACMG
(P458) EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
Wednesday, 4:00 pm - 11:59 pm
Irman Forghani, Irman Forghani; Steven Lang, MD; Mustafa Tekin, MD; Guney Bademci, MD, FACMG; Stephanie A. Bivona, MS; Stephan Zuchner, PhD, MD; Matthew Rodier, MD; Alejo A. Morales, phD
(P168) MUC1 gene Coding-VNTR Alignment-free Genotyping Approach Augmented ADTKD Diagnosis in a Cohort of 3735 Patients with Hereditary Kidney Diseases
Wednesday, 4:00 pm - 11:59 pm
Hassan Saei, PhD Candidate; Jessica Kachmar, MD; Vincent Morinière, MSc; Laurence Heidet, MD-PhD; Olivier Gribouval, MSc; Said Lebbah, PhD; Frederic Tores, MSc; Manon Mautret-Godefroy, MSc; Bertrand Knebelmann, MD-PhD; Stéphane Burtey, MD; Vincent Vuiblet, MD; Corinne Antignac, MD-PhD; Patrick Nitschké, PhD; Guillaume Dorval, MD-PhD
(P719) SMN1 deletion and silent carrier screening for Spinal Muscular Atrophy
Wednesday, 4:00 pm - 11:59 pm
Poh San Lai, PhD; Grace Chia, MBBS; Grace Tan, BSc; CP Liu, BSc; PS Low, MBBS, MD; Stacey KH Tay, MBBS, FRCPCH
(P280) Expansion of TAOK1 Related Developmental Delay Phenotype
Wednesday, 4:00 pm - 11:59 pm
Riley A. Johnson, BS; Lynne Wolfe, MS, CRNP, BC; Ellen F. Macnamara, MSGC; David R. Adams, MD, PhD
(P062) A case of Ornithine Transcarbamylase Deficiency
Wednesday, 4:00 pm - 11:59 pm
Suad S. Siuffi Campo, SC, MD; Paul R. Hillman, MD/PhD; David Rodriguez-Buritica, MD
(P839) A curated research catalogue of structural variation detected by optical genome mapping
Wednesday, 4:00 pm - 11:59 pm
Alex R. Hastie, PhD; Andy Wing Chun WC. Pang, PhD; Alka Chaubey, PhD, FACMG
(P013) A Long-term Disease Monitoring Program in Patients with Long-chain Fatty Acid Oxidation Disorders
Wednesday, 4:00 pm - 11:59 pm
Michal Inbar-Feigenberg, MD, FCCMG; Barbara K. Burton, MD; Amarilis Sanchez-Valle, MD; Jerry Vockley, MD, PhD, FACMG; Anjali Aggarwal, MD, FACMG; Joel Hetzer, PhD; Bridget Reineking, MS, RDN, CD; Andrew A. Grimm, MD, PhD
(P398) A Rare Report of a Child with Mosaic Trisomy 4
Wednesday, 4:00 pm - 11:59 pm
Lauren Bartik, MS, CGC; Elena A. Repnikova, PhD; Eric T. Rush, MD; Jennifer Roberts, MS; Erin Baldwin, MS, LCGC; John C. Carey, MD, MPH, FACMG, FAAP; Lorenzo D. Botto, MD; John M. O'Shea, PhD; Ting Wen, PHD MBBS; Pinar Bayrak-Toydemir, MD, PhD; Rong Mao, MD; Undiagnosed Diseases Network, N/A; Bonnie R. Sullivan, MD
(P808) A Retrospective Analysis of Pregnancy Outcome and Obstetric Care in Individuals with Genetic Conditions Compared to Controls
Wednesday, 4:00 pm - 11:59 pm
Roni Zemet Lazar, MD; Katherine Abraham, MPAS; Allyson Nevins, BS; Ignatia B. Van Den Veyver, MD; April D. Adams, MD, MD, MS, FACMG, FACOG
(P063) A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries
Wednesday, 4:00 pm - 11:59 pm
Timothy Simmons, MStat; Elisha Hughes, PhD; Dmitry Pruss, PhD; Matthew Kucera, MSc; Benjamin Roa, PhD; Thaddeus Judkins, MS; Thomas P. Slavin, Jr., MD; Victor Abkevich, PhD; Ryan Hoff, MS; Srikanth Jammulapati, MS; Susanne Wagner, PhD; Dale Muzzey, PhD; Jerry S. Lanchbury, PhD; Alexander Gutin, PhD
(P104) A Single-Center Perspective on Glioma Epidemiology from 2018-2023 in the Middle East
Wednesday, 4:00 pm - 11:59 pm
Mina H. Tabrizi, M.D., Ph.D.; Maryam Darvishi, M.Sc.; Shiva Bayat, Ph.D.; Ali Mamivand, M.Sc.; Meysam Motevasseli, M.Sc.; Alireza Khoshnevisan, M.D.; Hiva Saffar, M.D.; Susan B. Olson, Ph.D.
(P046) ACMG/AMP Variant Classification Framework in Arginase 1 Deficiency:
Implications for Birth Prevalence Estimates and Diagnostics
Wednesday, 4:00 pm - 11:59 pm
Mayowa Osundiji, MBBS, PhD, DABMGG, DipRCPath, FADLM, HCLD(ABB); Jessie Cameron, PhD; Rory Olson, PhD; Bukola Olarewaju, BSc, PhD student; Andreas Schulze, MD, PhD, FRCPC
(P386) Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome
Wednesday, 4:00 pm - 11:59 pm
Sarah Donoghue, MS, LCGC; Cara Skraban, MD; Jake Squicciarini, MS, LCGC; Jing Wang, MD; Alyssa L. Rippert, MS CGC; Donna M. McDonald-McGinn, MS, LCGC; Elaine H. Zackai, MD
(P477) Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape
Wednesday, 4:00 pm - 11:59 pm
Whiwon Lee, MS, CGC; Joyce Yan, BS; Jan M. Friedman, MD, PhD; Christian R. Marshall, PhD, FACMG, FCCMG; Robin Z. Hayeems, ScM, PhD; Mark Dobrow, PhD; Katharine Fooks, MSc; Abby Tafler, BS; Pooja Banglorewala, BS; Melanie Barwick, PhD, CPsych
(P100) BCR/ABL1 p230 Transcript in B-lymphoblastic Leukemia/Lymphoma: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Agshin F. Taghiyev, PhD; Christopher Giauque, PhD, ABB(HCLD); Giovanni Insuati-Beltran, MD; W. Patrick Morrow, MD; Nancy S. Rosenthal, MD; Lynne S. Rosenblum, PhD
(P146) BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders.
Wednesday, 4:00 pm - 11:59 pm
Jennifer Schleit, PhD, FACMG; Meredith Wright, Ph.D.; Eric Blincow, PhD; Sara Caylor, BS; Christina Chambers, PhD; Guillermo del Angel, MS, PhD; Annette Feigenbaum, MBChB, FRCP, DABMG; Erwin Frise, MS, PhD; Lucia LG. Guidugli, PhD; Kevin Hall, PhD; William R. Mowrey, PhD; Laurie Smith, MD; Chris Kunard, MS; Charlotte A. Hobbs, MD PhD; Christian Hansen, PhD; Lauren Olsen, MS; Katarzyna (Kasia) Ellsworth, PhD; Mark J. Kiel, MD PhD; Chad Krilow, PhD; YongHyun Kwon, MS; Rao Madhavrao, PhD; Shyamal S. Mehtalia, MS; Jennie Le, DHSc, MS, CGMBS; Jeremy Leipzig, PhD; Yupu Liang, PhD; Rebecca Mardach, MD; Danny A. Oh, MS; Mallory Owen, MD; Liana Protopsaltis, MS; Erica Sanford Kobayashi, MD; Gunter Scharer, MD; Brandon A. Schultz, MS; Seth Shelnutt, BS; Duke S. Tran, MS; Lucita Van Der Kraan, CGMBS, MB(ASCP); Kristen Wigby, MD; Mary J. Willis, MD, PhD, FACMG; Aaron Wolen, PhD; Mark Yandell, PhD; Thomas Defay, PhD; Stephen F. Kingsmore, MB ChB BAO DSc FRCPath
(P678) Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome
Wednesday, 4:00 pm - 11:59 pm
Farid Ullah, MS, PhD; Vincenzo Salpietro, PhD; Meghan A. Coghlan, MD; Abhineet Sharma, MD; Angelique Mercier, GC; Anne McRae, CGC; Henry Houlden, MD; Erica E. Davis, PhD
(P322) Case report: A splice site variant in COL4A6 may cause recurrent stroke
Wednesday, 4:00 pm - 11:59 pm
KHURRAM LIAQAT, PhD; Francesco Vetrini, PhD, FACMG; Erin E. Conboy, MD, FACMG; Kayla Treat, MS, CGC; Kevin T. Booth, PhD
(P631) Case Report: Haploinsufficiency of the HMGB1 Gene Causes 13q12.3 Microdeletion Syndrome
Wednesday, 4:00 pm - 11:59 pm
Ting Wen, PHD MBBS; Brian J. Shayota, MD, MPH, FACMG; Lauren Wallace, MS, CGC; Coumarane Mani, PhD; Neal Davis, MD; Jian M. Zhao, PhD
(P375) Case Study: Germline Chromoanagenesis Associated With Global Developmental Delay, Dysmorphic Features and Failure to Thrive
Wednesday, 4:00 pm - 11:59 pm
Priya T. Bhola, MSc, MB, BCh; Aren E. Marshall, PhD; Melanie Beaulieu Bergeron, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Jean McGowan-Jordan, PhD
(P814) Cases of survivorship: prenatal counseling for double heterozygosity in skeletal dysplasia
Wednesday, 4:00 pm - 11:59 pm
Andrea J. Schelhaas, MS, CGC; Angela L. Duker, MS, CGC; Valerie Schwartz, MD; Ricki Carroll, MD, MBE
(P162) Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I
Wednesday, 4:00 pm - 11:59 pm
BEOMHEE LEE, MD, PhD; Dohyung Kim, MD; Jihee Yoon, MD; Hyunwoo Bae, MD; Soojin Hwang, MD,PhD; KyungAh Kim, BS; In Hee Choi, PhD
(P182) Characterization of Neurocognitive Differences between Mosaic and Non-Mosaic Pediatric Turner Syndrome Patients
Wednesday, 4:00 pm - 11:59 pm
Sophia Kelsey, BS, BA; Doris Fadoju, MD; David Marcus, PhD, ABPP-CN; Janette L. diMonda, MMSc, CGC; Nadia Ali, PhD
(P362) Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
Wednesday, 4:00 pm - 11:59 pm
Milena Fraustro, MD; Maria Florencia Badino, MD; Mislen Bauer, MD
(P133) CNS hemangioblastoma in pediatric patients with von Hippel–Lindau disease: When to start surveillance.
Wednesday, 4:00 pm - 11:59 pm
Yoshiko Nakano, MD; Bailey Gallinger, MSc, CGC; Rosemarie E. Vnier, MSc, MS, CGC, CCGC; Abhaya Kulkarni, MD, MSc, PhD, FRCSC; Peter Dirks, MD, PhD, FRCSC; James Rutka, MD, PhD, FRCSC, FACS, FAANS; Jonathan D. Wasserman, MD, PhD; Anita Villani, MD, MSc; David Malkin, MD, FRCPC, FRSC
(P863) Colombian Pacific genetics initiative: a project for the diagnosis and research of genetics rare disease.
Wednesday, 4:00 pm - 11:59 pm
Stiven Sinisterra, MD; Harry Pachajoa, MD, PhD, Physician, PhD in Biomedical sciences; Eidith Gómez, MD, Physician; Luis E. Prieto Valdes, MD, Physician; Eliana Manzi- Tarapues, Biologist; Estephania Candelo, MD, Physician, MSc; Lorena Diaz, Bacteriology; Paola Duque, Bacteriology
(P885) Connecting Patient Experience Literature to Clinical Practice: What Individuals and Parents Desire in Delivering the Diagnosis of Sex Chromosome Aneuploidy
Wednesday, 4:00 pm - 11:59 pm
Kirsten A. Riggan, MA, MS; Kelly E. Ormond, MS, CGC; Sharron Close, PhD, MS, CPNP-PC, FAAN; Megan A. Allyse, PhD
(P736) Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient with Aplastic Anemia
Wednesday, 4:00 pm - 11:59 pm
Min Gao, PhD; Yunjia Chen, PhD, MBA, FACMG; Pongtawat Lertwilaiwittaya, MD; Anna CE. Hurst, MD, MS, FACMG; Ali Al-Beshri, MD; Andrew J. Carroll, PhD, FACMG; Fady M. Mikhail, MD, PhD, FACMG
(P554) Cost not a barrier for adopters of pharmacogenetic testing: results from a study of causal models in different healthcare systems
Wednesday, 4:00 pm - 11:59 pm
Nina Sperber, PhD; Deborah P. Cragun, PhD, MS, LCGC; Megan C. Roberts, PhD; Lisa Bendz, PharmD; Ryanne Wu, MD; Natasha Petry, PharmD, MPH, BCACP; Ryley Uber, PharmD; Sarah Gonzales, BA; Susanne B. Haga, PhD; Laura Ramsey, PhD
(P623) Cytogenetic Findings in a Clinical Next Generation Sequencing Panel for Very Early Onset Inflammatory Bowel Disease
Wednesday, 4:00 pm - 11:59 pm
Hadia Hijazi, PhD; Tamara Luke, CGC; Kieran B. Pechter, PhD; Archana Tare, PhD; Kajia Cao, Ph.D.; Laura K. Conlin, PhD; Judith Kelsen, MD; Nancy B. Spinner, PhD, FACMG; Yavuz Bayram, MD, DABMGG
(P818) Data from electronic healthcare records expands our understanding of X-linked genetic diseases
Wednesday, 4:00 pm - 11:59 pm
Rory Tinker, MbCHB; Lisa Bastarache, MA; Kimberly Ezell, FNP-BC; Serena Neumann, MSN, FNP-BC, APRN; Yutaka Furuta, MD; Karee Morgan, NP; John A. Phillips, III, MD, FACMG
(P658) Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband’s blood sample
Wednesday, 4:00 pm - 11:59 pm
Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Vahid Akbari, PhD candidate; Vincent Hanlon, PhD candidate; Tiffany Leung, BSc, MSc; Katherine Dixon, PhD; Kieran O’Neill, PhD; Alexandra Roston, BA, MA, MD; Lilian Cordova, MD; Karen Wong, BSc; Alshanee Sharma, BSc; Yaoqing Shen, PhD; Janine Senz, BSc; Yanni Wang, MD, PhD; Daniel Chan, BSc; Alexandra Fok, MSc, MGenCoun; Quan Hong, MSc; Jennifer Nuk, MSc, CGC; Robin Coope, PhD, PEng; Eric Chuah, B.Sc.; Simon Chan, BSc; Hyun-Wu Lee, BSc; Steve Bilobram, BSc; Yongjun Zhao, M.Sc., BVM; Miruna Bala, PEng; Karen L. Mungall, BSc; Andy Mungall, PhD; Richard Moore, PhD; Dean A. Regier, PhD; Alice Virani, MA (Oxon), MS, MPH, PhD; Louis Lefebvre, PhD; Fabio Feldman, PhD; Marco Marra, PhD; Sophie Sun, MD; Stephen Yip, MD PhD; Peter Lansdorp, MD, PhD; Steven JM. Jones, PhD
(P252) Development of a scoring system to define lysosomal diseases
Wednesday, 4:00 pm - 11:59 pm
Matheus Wilke, MD. Ph.D.; Jenny Goldstein, PhD, CGC; Emily Groopman, M.D., Ph.D.; Shruthi Mohan, PhD; Amber Waddell, MPH; Raquel Fernandez, BS; Hongjie Chen, PhD/FACMG; Deeksha S. Bali, PhD, FACMG; Heather Baudet, MD, PhD; Lorne Clarke, MD; Christina Y. Hung, MD; Rong Mao, MD; Tatiana Yuzyuk, PhD, FACMG; William J. Craigen, MD, PhD; Filippo Pinto e Vairo, M.D., Ph.D
(P809) Diagnosis and management of pregnant people with inborn errors of metabolism in an adult reproductive genetics and genomics clinic
Wednesday, 4:00 pm - 11:59 pm
Asha N. Talati, MD, MS; Emily E. Hardisty, MS, CGC; Madeline j. Dyke, MS, CGC; Clara Hildebrandt, Clara Hildebrandt; Michael C. Adams, MD; Muge Calikoglu, MD; Neeta L. Vora, MD, FACMG
(P596) Diagnostic Challenges and Phenotypic Variations in Chimeric Genome-Wide Maternal and Paternal Uniparental Disomy: A Prenatal and Postnatal Perspective
Wednesday, 4:00 pm - 11:59 pm
Candace T. Myers, PhD; Whitney Neufeld-Kaiser, MS, CGC; Iya Znoyko, PhD; Cindy Johnson, MS; Edith Y. Cheng, MD, MS; Joseph K. Jwang, MD; Anita E. Beck, MD, PhD; Daynna J. Wolff, Ph.D.; Yajuan J. Liu, PhD
(P451) DIGENIC INHERITANCE OF PATHOGENIC VARIANTS IN DICER1AND CACNA1I CAN PRESENT AS GLOW SYNDROME
Wednesday, 4:00 pm - 11:59 pm
Damla Gonullu-Rotman, MD; Julian A. Martinez-Agosto, MD, PhD, FACMG; Omar Abdul-Rahman, MD
(P285) Double Somatic Mosaic for Pathogenic Variants in PIK3CA and GNAQ
Wednesday, 4:00 pm - 11:59 pm
Dylan Allen, MSPH, CGC; GIFTY BHAT, MD, FAAP, FACMG; Makenzie Conner, MS, CGC
(P142) Efficacy, Safety and Tolerability of Chenodeoxycholic Acid In Adult Patients With Cerebrotendinous Xanthomatosis (RESTORE): A Randomized, Placebo-Controlled Phase 3 Study
Wednesday, 4:00 pm - 11:59 pm
Andrea E. DeBarber, PhD; Yaz Y. Kisanuki, MD; Jolan M. Terner-Rosenthal, PhD; Paulo R. Nobrega, MD, PhD; Ryan W. Himes, MD; Suman Jayadev, MD; John A. Bernat, MD, PhD; Vikram Prakash, MD; James B. Gibson, MD; Austin Larson, MD; Paulo Sgobbi, PhD; Edward Murphy, MS; Brian Fedor, BS; Cheryl Wong Po Foo, PhD; Rana Dutta, PhD; Michael Imperiale, MD; Will Garner, PhD; Pamela Vig, PhD; P. Barton Duell, MD; Sarah Perez, MD; Ritesh A. Ramdhani, MD; Jonas A. Saute, MD, PhD
(P691) Elevating Pharmacogenomics: A Tailored In-House Solution for Empowering Accurate Clinical Decision Support
Wednesday, 4:00 pm - 11:59 pm
Ender Karaca, MD; Scott Kang, CHS(ACHI); Jenifer Williams, B.S., CHS (ACHI), MB (ASCP); Lynne Klingman, MT( ASCP ), CHS (ACHI ); Marcelo J. Pando, PhD
(P137) Engaging Participants in Data Sharing Enables Exploration of Dual Diagnoses
Wednesday, 4:00 pm - 11:59 pm
Caitlin Cooney, Caitlin Cooney; Juliann M. Savatt, MS, CGC; Erin R. Riggs, MSGC, CGC; Christa L. Martin, PhD, FACMG, DABMGG
(P713) Estimating the prevalence of de novo monogenic disorders from gnomAD database
Wednesday, 4:00 pm - 11:59 pm
Mutaz Amin, MD, PhD; Samantha Baxter, MS, CGC; Kaitlin Samocha, PhD; Anne H. O'Donnell-Luria, MD, PhD, FACMG
(P138) Evaluating the impact of gnomAD v4 on genetic prevalence estimates
Wednesday, 4:00 pm - 11:59 pm
Samantha Baxter, MS, CGC; Moriel Singer-Berk, MS; Kathryn Russell, BS; Mutaz Amin, PhD; Carmen Glaze, BS; Riley Grant, MS; Josephine Lee, BS; Nick Watts, MS; Michael Wilson, BS; Heidi L. Rehm, PhD, FACMG; Anne O'Donnell-Luria, MD, PhD, FACMG
(P016) Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency
Wednesday, 4:00 pm - 11:59 pm
Ameya Walimbe, MD PhD; Emily Waskow, D.O.; Laura P. Mackay, MD, MPH; Marcus J. Miller, PhD; Sarah H. Elsea, PhD, FACMG; Fernando Scaglia, MD; Charul Gijavanekar, PhD
(P021) Expansion of the Phenotype of Thiamine Pyrophosphokinase Deficiency, A Treatable Cause of Leigh Disease, Includes Severe Neuronopathic Disease
Wednesday, 4:00 pm - 11:59 pm
Jennifer L. Harmon, MD, PhD; Olivier Fortin, MD; Jason W. Schroeder, MD; Laura Tochen, MD; Jamie L. Fraser, MD, PhD
(P813) Experiences of Black Pregnant People Offered Prenatal Diagnosis in the Setting of Fetal Anomalies: A Qualitative Study
Wednesday, 4:00 pm - 11:59 pm
Asha N. Talati, MD, MS; Karen Sheffield-Abdullah, PhD, RN, CNM; Aryana S. Daye, BA; Kelly L. Gilmore, MS, CGC; Kelly L. Gilmore, MS, CGC; Marsha Michie, PhD; Anne D. Lyerly, MD, MBE; Neeta L. Vora, MD, FACMG
(P799) Experiences with an Adult Reproductive Clinical Genetics & Genomics Clinic: Insights and Opportunities
Wednesday, 4:00 pm - 11:59 pm
Asha N. Talati, MD, MS; Madeline j. Dyke, MS, CGC; Emily E. Hardisty, MS, CGC; Smriti Singh, MS, CGC; Kelly L. Gilmore, MS, CGC; Rachel Veazey, MS, CGC; Ginger Hocutt, MS, CGC; Amy Mottola, MS CGC; Neeta L. Vora, MD, FACMG
(P472) Exploring Diagnostic Yield and Challenges in Exome Sequencing in Highly Consanguineous Tamil Nadu Cohort from South India.
Wednesday, 4:00 pm - 11:59 pm
Nivedita Rajakumar, MS, MA; Manaswini Krishnakumar, B.Tech; Udhaya Kotecha, MD Pediatrics, Fellowship in Clinical Genetics; Priya Ranganath, MD; Ashka Prajapati, MD; Rema Chandramohan, DCH, MDDNB(Paediatrics),PhD (Neo), FIAMS, PGDEPI,; Anuradha D, MD, DCH, PhD; Kalpana M.S, MD; Annie R. Pradeepa, MD; Parth S. Shah, MD; Nidhi Shah, MD; Sheetal S. Sharda, Dr, MD, DM
(P880) Facilitating return of genetic research results from a biobank repository: participant uptake and utilization of digital interventions
Wednesday, 4:00 pm - 11:59 pm
Angela Bradbury, MD; Elisabeth Wood, MS, CGC; Lillian Phung, BA; Brian Egleston, PhD; Demetrios Ofidis, BS; Rajia Mim, MS; Sarah Howe, MS, CGC; Lillian Hoffman-Andrews, MS, CGC; Anjali Owens, MD; Susan Domchek, MD; Reed E. Pyeritz, MD, PhD; Bryson Katona, MD, PHD; Staci Kallish, DO; Giorgio Sirugo, MD, PhD; Joellen Weaver, BS; Katherine L. Nathanson, MD; Daniel Rader, MD
(P093) Feasibility of Whole Body MRI and Multicancer Early Detection Testing in People at High Risk for Cancer Development
Wednesday, 4:00 pm - 11:59 pm
Dan Raz, MD; Bita Nehoray, MS; Aaron Ceniceros, BS; Pejman Motarjem, MD; Shana Landau, MD; Stacy W. Gray, MD, AM
(P577) Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel
Wednesday, 4:00 pm - 11:59 pm
Julie Hathaway, MSc., CGC, CCGC; Johanna Huusko, PhD; Marcos Cicerchia, MD; Saija Ahonen, PhD; Johanna Tommiska, PhD; Kimberly Gall, MSc., CGC; Khalida Liaquat, MS; Victoria Howell, MS, CGC; Allison Sluyters, MSc, CGC, CCGC; Janica Djupsjöbacka, MSc; Mikko Muona, PhD; Inka Saarinen, MSc.; Eija Seppala, PhD; Tiia Kangas-Kontio, PhD; Lotta Koskinen, PhD; Pertteli Salmenperä, PhD; Samuel Myllykangas, PhD; Juha W. Koskenvuo, MD, PhD
(P206) Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood
Wednesday, 4:00 pm - 11:59 pm
Anastasia Ambrose, MS Medical genetics; Saloni Sharma, BSc, Neuroscience; Dan Zhang, M.Sc, B.Sc; Shalini Bhal, B.Sc; Clara Hung, RN, BScN; Shailly Jain-Ghai, MD, FRCPC, FCCMG; Alicia Chan, MD, FRCPC, FCCMG; Saadet Andrews, MD, PhD, FCCMG, FRCPC
(P351) Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes
Wednesday, 4:00 pm - 11:59 pm
Amelle Shillington, DO; Lori S. White, MS, LGC, PhD; Robert J. Hopkin, MD, FACMG; Katherine Harris, MD; Katherine J. Zappia, MD, PhD; Martine Lamy, MD, PhD; Rachel Doberstein, MS, LGC
(P430) Genetically-determined variants lead to to neuronal hyperexcitability and clinical psychosis/catatonia: case series.
Wednesday, 4:00 pm - 11:59 pm
Jonathan A. Muniz, MD; Gurpreet Singh Walia, MBBS; Pratik Agarwal, Medical Student; Mona Salehi, MD; Marco Grados, MD, MPH
(P638) Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
Wednesday, 4:00 pm - 11:59 pm
Naga M. Guruju, PhD, FACMG; Vanessa Jump, BS; Ruby Liu, PhD, CGC; Babi Ramesh Reddy Nallamilli, PhD; Christin D. Collins, PhD, FACMG; Lora H. Bean, PhD; Madhuri Hegde, PhD, FACMG; Jill Steigerwalt, BS
(P263) Genotype-Phenotype Associations in CASK Disorders: A Systematic Literature Review and Report of Three Cases
Wednesday, 4:00 pm - 11:59 pm
Moises O. Fiesco-Roa, MD, MSc, PhD(c); Andrea V. Medina-Huerta, MD; Paulina G. Gómez-Moreno, MD; Gabriela Baltazar-Escobar, MD; Mariana Berzunza, MD; Anaid Dordelly-Hernández, MD; Abed Ramírez, MD; Jaime A. López-Valdez, MD; Cristian M. Muñoz Sánchez, MD; Silvia Sánchez-Sandoval, PhD(c); Miguel Rodríguez-Morales, MD, MSc; Pedro Reyes, PhD(c); Leda Torres, PhD; Liliae P. Bustamante-Montes, MD, PhD; Sara Frías, PhD; Rodrigo Ugalde-Resano, MD, MSc, PhD(c)
(P360) Genotype-Phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023
Wednesday, 4:00 pm - 11:59 pm
Stiven Sinisterra, MD; Diana Marcela Vasquez Forero, MD; Luis E. Prieto Valdes, MD, Physician; Santiago S. Cruz Zamorano, MD, Physician, Especialist in Pediatric neurologist; Jaime A. Valderrama Chaparro, MD, Physician; Neurologist; Harry Pachajoa, MD, PhD, Physician, PhD in Biomedical sciences
(P825) GENYSIS: a novel core facility for clinical evaluation of research genomic sequence
Wednesday, 4:00 pm - 11:59 pm
Bradford C. Powell, MD, PhD, FACMG; Kimberly Foss, MS; Elizabeth Hutchins, MS; Mai Xiong, PhD; Tam P. Sneddon, PhD
(P495) Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases
Wednesday, 4:00 pm - 11:59 pm
Blake Vuocolo, MS, CGC; Ryan German, BS; Carlos A. Bacino, MD, FACMG; Chaya N. Murali, MD, FACMG; Seema Lalani, MD; Stephanie M. Baskin, MD, FACMG; Elizabeth Roeder, MD; Carrie A. Schmid, MD; Scott D. McLean, MD; Rebecca O. Littlejohn, MS, CGC; Olivia Juarez, MS, CGC; Melissa Stuebben, MS, CGC; Liesbeth Vossaert, PhD, FACMG; Nichole Owen, PhD, FACMG; Christine M. Eng, MD; Pengfei Liu, PhD; Zhandong Liu, PhD; Dongxue Mao, PhD; Seon Young Kim, Bioinformatics; Sasidhar Pasupuleti, Systems Administrator II; Shinya Yamamoto, DVM, PhD; Hugo Bellen, DVM, PhD; Michael F. Wangler, MD
(P609) Improving Genome Diagnostics of Hemiplegic Migraine
Wednesday, 4:00 pm - 11:59 pm
Mohammed AL-Fayyadh, MPH,PhD; Neven Maksemous, PhD; Heidi Sutherland, Dr, PhD; Rod Lea, PhD; Lyn Griffiths, PhD
(P082) Increased Risk of Hematolymphoid Neoplasms in Individuals with Heterozygous Deletion of a Fanconi Anemia Gene
Wednesday, 4:00 pm - 11:59 pm
Taimoor I. Sheikh, PhD; Abigail Peffer, MS, CGC; Daniel Bellissimo, PhD; Mahmoud Aarabi, MD, PhD; Svetlana A. Yatsenko, MD
(P061) Inherited Genetic Markers for TemporoMandibular Disorder (TMD) Pain in PolyCystic Ovary Syndrome: Identifying Novel Therapeutic Targets.
Wednesday, 4:00 pm - 11:59 pm
Janani Dakshina Moorthy, MTech,PhD,CGC; Priyanka Kodaganallur Pitchumani, BDS; Davis Thomas, BDS, DDS, MSD, MSc Med, MSc; Vaishnavi Prabhakar, BDS, MDS/ Diplomate American Board of Orofacial Pa
(P567) Innovations in Education: Empowering Child Neurology Residents with Basic Concepts in Genomic Testing Through a National Curriculum
Wednesday, 4:00 pm - 11:59 pm
Kuntal Sen, MD, FACMG; Amitha Ananth, MD; Daniel Calalme, MD PhD; Jeffrey Strelzik, MD; Rachel Gottlieb-Smith, MD; Kristin Baranano, MD PhD; Lisa T. Emrick, MD; Julie Ziobro, MD PhDz; Christa Habela, MD PhD; Margie Ream, MD PhD; Divakar Mithal, MD PhD; Andrea L. Gropman, MD, FACMG; Louis Dang, MD, PhD
(P193) Inpatient genetics consults for nondysmorphic children: characteristics, testing patterns and diagnostic yield.
Wednesday, 4:00 pm - 11:59 pm
Alexandra C. Keefe, MD, PhD; Abbey A. Scott, MS, CGC; Luke D. Kruidenier, MS CGC; Megan C. Sikes, MS, CGC; Anita E. Beck, MD, PhD; Katrina M. Dipple, MD, PhD; Jennifer Hayek, MD; James T. Bennett, MD, PhD; Ghayda M. Mirzaa, MD; Margaret P. Adam, MD, MS, FACMG; Ian A. Glass, MBChB, MD, FACMG; Tara L. Wenger, MD, PhD
(P539) International policies guiding the identification, analysis, and management of secondary findings from genomic sequencing: results from a systematic review
Wednesday, 4:00 pm - 11:59 pm
Safa Majeed, Safa Majeed; Christine Johnston, BSc; Saumeh Saeedi, BSc.; Chloe Mighton, MSc; Vanessa Rokoszak, MHSc; Ilham Abbasi, BSc; Sonya Grewal, HBSc; Vernie Aguda, MSc; David Malkin, MD, FRCPC, FRSC; Yvonne Bombard, PhD
(P366) Kidney cysts: potential underrecognized phenotype of Coffin-Siris syndrome
Wednesday, 4:00 pm - 11:59 pm
Victor Wakim, MD; Sarah Mazzola, MS; Kathrine M. Dell, MD; Xiangling Wang, MD, PhD, FACMG
(P341) Less Than One in a Million: Double Homozygosity for F2 and F5
Wednesday, 4:00 pm - 11:59 pm
Alyssa S. Wetzel, PhD; Deqin Ma, MD, PhD
(P293) Long Read Sequencing Analysis of 120 Samples with Known and Challenging-to-Detect Clinical Variants
Wednesday, 4:00 pm - 11:59 pm
Joseph M. Devaney, PhD; Jessica Noya, MS; April S. Berlyoung, PhD; Aaron Johnson, MS; Julianna Spangler, MS; Rhonda Brandon, MS; Kathleen S. Hruska, PhD, FACMG; Lucas Lochovsky, PhD; Egor Dolzhenko, PhD; Xiao Chen, PhD; Michael A. Eberle, PhD; Alexander Robertson, BS; Paul S. Kruszka, MD; Gustavo Stolovitzky, PhD; Scott Newman, PhD
(P821) Long-read sequencing resolves CYP21A2 alleles in Congenital Adrenal Hyperplasia
Wednesday, 4:00 pm - 11:59 pm
Emmanuèle C. Délot, PhD; Jean Monlong, PhD; Xiao Chen, PhD; Hayk Barseghyan, PhD; Surajit Bhattacharya, PhD; Jonathan LoTempio, PhD; Brandy McNulty, __; Shloka Negi, BS; Sara O'Rourke, __; Alexander Robertson, BS; William J. Rowell, MA; Seth I. Berger, MD, PhD; Karen Miga, PhD; Benedict Paten, PhD; Jonah Cool, PhD; Eric J. Vilain, MD, PhD
(P722) Low- Level Large Deletions in Mitochondria Genomes: A Potential Diagnosis of Mitochondrial Diseases
Wednesday, 4:00 pm - 11:59 pm
Jun Yang, Ph.D.; Tiansheng Chen, M.D., Ph.D.; Eric C. Kao, PhD; Jie Dong, PhD; John Lattier, PhD; Hongzheng Dai, Ph.D, FACMG; Linyan Meng, PhD, FACMG; Fan Xia, PhD; Eric S. Schmitt, Ph.D.; Sandra G. Peacock, M.S.; William J. Craigen, MD, PhD; Robert S. Rigobello, M.S.; Lee-Jun C. Wong, Ph.D.; Christine M. Eng, MD; Yue Wang, PhD
(P476) Marfan Syndrome Evaluation: Improving Access through an Alternative Care Delivery Model
Wednesday, 4:00 pm - 11:59 pm
Nicole Weaver, MD; Erin Miller, MS; Cara L. Barnett, MS; Nicole Brown, MD; Ashley Neal, MD; Alissa Meek, RN; Amy Shikany, MS
(P775) Maternally Inherited 11p15 Duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling Mild Russell-Silver Syndrome Phenotype
Wednesday, 4:00 pm - 11:59 pm
Amanda Thomas-Wilson, PhD, MS, FACMG; Nina Harkavy, MS, CGC; Corbin Schwanke, CLSp(MB); Jonathan Schoof, CLSp(MB); Sowmya Thirumalai Srinivasa, MSc; Saurav Guha, PhD, FACMG; Atteeq U. Rehman, PhD, FACMG; Volkan Okur, MD, FACMG; Jessica L. Giordano, MS, CGC; Abdallah F. Elias, MD; Ronald J. Wapner, MD; Vaidehi Jobanputra, PhD, MS, FACMG
(P387) Missense Variants in SRCAP; Expansion of Phenotypic Manifestations Associated with non-FHLS SRCAP-Related Neurodevelopmental Disorder
Wednesday, 4:00 pm - 11:59 pm
Victoria Huckestein, DO; Danielle Monteil, MD; David Garner, Maj USAF; Michelle Kuperminc, MD; Michelle Jardon-Aites, MD
(P331) Multiomic Approach to Diagnosis, A Case Study in the Undiagnosed Diseases Program
Wednesday, 4:00 pm - 11:59 pm
Anna Crowell, BA Neuroscience; Ellen Macnamara, ScM, CGC; Camilo Toro, MD; F G. Frost, BS; Christopher Grunseich, MD; Athena Apfel, BS
(P223) Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe Platform
Wednesday, 4:00 pm - 11:59 pm
Fabio FF. Fuligni, PhD; Robert Thaenert, Scientist - Sr; Aidan Hennigan, Scientist - Sr; Duncan Kilburn, Director, Chemical Science; Valeriya Gaysinskaya, Senior Scientist; Egor Dolzhenko, PhD; Guilherme De Sena Brandine, PhD; Sarah Kingan, PhD; Jason Evans, Mgr, Bioinformatics Engineering Sr; Danuta Hietpas, Mgr, Product-CF Sr; Hannah White, Mgr, Bioinformatics Program; Tamara Smith, Dir, Product-CF Sr; Timothy Looney, Dir, R&D Sr - Immuno-Oncology; Ray Veeraraghavan, Exec Dir, ADx Technology; Tina Hambuch-Hawks, Dir, Medical • R&D - Genetics; Christopher Elzinga, Dir, Bioinformatics Research • Bioinformatics- R&D; Meaghan Russell, Dir, Science - Sr
(P290) Neonatal encephalopathy: Identification of underlying genetic causes
Wednesday, 4:00 pm - 11:59 pm
Anastasia Ambrose, MS Medical genetics; Vanda McNiven, MD, MSc, FRCPC; Andreas Schulze, MD, PhD, FRCPC; Vann Chau, MD, FRCPC; Saadet Andrews, MD, PhD, FCCMG, FRCPC; Diane Wilson, MN, NP-Paeds, NNP-BC
(P073) Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification
Wednesday, 4:00 pm - 11:59 pm
Jason Reuter, PhD; David Stafford, PhD; Samskruthi Padigepati, MS; Flavia M. Facio, MS, CGC; Michael Korn, MD; Britt A. Johnson, PhD, FACMG; Keith Nykamp, PhD
(P103) Operationalizing Structured Curated Scientific Literature (CIViC and Hypothesis) in Developing Gene-Specific Recommendations of the ClinGen VHL Variant Curation Expert Panel
Wednesday, 4:00 pm - 11:59 pm
Deborah I. Ritter, PhD; Chansonette Badduke, Ph.D.; Michael Anderson, PhD; Arpad M. Danos, PhD; Kurston Doonanco, M.S.; Kirsten M. Farncombe, PhD; Bailey Gallinger, MSc, CGC; Rachel Giles, M.D., Ph.D.; Malachi Griffith, PhD; Obi L. Griffith, PhD; Carolyn Horton, MS, CGC; Kathleen S. Hruska, PhD, FACMG; Hio Chung Kang, PhD; Kilannin Krysiak, PhD, FACMG; Minjie Luo, PhD; Jerry Machado, PhD, DABMGG, FCCMG; Eamonn Maher, MD, PhD; Kelly McGoldrick, PhD; Tina Pesaran, MS, CGC; Neta Pipko, MHSc; Sarah Ridd, BASc; Jason Saliba, PhD; Clare Sheen, B.A.; Raymond H. Kim, MD
(P858) Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project
Wednesday, 4:00 pm - 11:59 pm
Hadley S. Smith, PhD, MPSA; Madison R. Hickingbotham, MS; Bethany Zettler, MS, CGC; Tanner F. Coleman, MS, CGC; Kelly M. East, MS, CGC; Stacey Pereira, PhD; Amy L. McGuire, JD, PhD; Ingrid A. Holm, MD, MPH, FACMG, FAAP; Robert C. Green, MD, MPH; Kurt D. Christensen, PhD
(P001) Outcomes In 14 Live Births Resulting From Pegvaliase-Treated Pregnancies In Females With PKU
Wednesday, 4:00 pm - 11:59 pm
Caide Bier, MS; Kaelin Dickey, MS; Hans C. Andersson, MD; Markey C. McNutt, II, MD, PhD; Danielle Vice, MS, RD, LD, CNSC; Erin Cooney, MD, FAAP, FACMG; Megan Morand, MS, CGC; Joseph Ray, MD, FACMG; Rebecca Sponberg, NP; Richard Chang, MD; Monica Boyer, CPNP; Brittan Bibb, MS, RD, LD; Angela Crutcher, NP; Melissa D. Lah, MD; Laura A. Davis-Keppen, MD; Cindy Matthes, MS, RD
(P303) Population Prevalence of Sex Chromosome Trisomy Varies by Genetic Ancestry
Wednesday, 4:00 pm - 11:59 pm
Shanlee Davis, MD,PhD; Craig Teerlink, PhD; Julie A. Lynch, PhD, RN, MBA; Meghana S. Pagadala, MD, PhD; Bryan R. Gorman, PhD; Judith Ross, MD; Richard L. Hauger, MD
(P551) Provider perspectives on genomic care in safety-net neonatal intensive care units
Wednesday, 4:00 pm - 11:59 pm
Monica H. Wojcik, MD; Alissa H. D'Gama, MD, PhD; Jessica H. Douglas, MS, CGC; Sonia H. Hills, BA; Margaret Parker, MD, MPH; Pankaj Agrawal, MD, MSSc; Timothy H. Yu, MD, PhD
(P392) Rapid complement mediated TMA diagnosis and early intervention in a renal intensive care unit using Nanopore technology
Wednesday, 4:00 pm - 11:59 pm
Nadhi YOUSFI, PhD; Cyril Mousseaux, MD, PhD; Marie Mile, PhD; Abderaouf HAMZA, MD, PhD student; Cedric Rafat, MD; Yosu Luque, MD, PhD; Carine El sissy, PhD; Sacha Beaumeunier, PhD; Denis Bertrand, PhD; Michael Blum, PhD; Julien Doudement, PhD; Nicolas Philippe, PhD; Veronique Fremeaux-Bacchi, MD, PhD; Laurent Mesnard, MD, PhD
(P411) Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype
Wednesday, 4:00 pm - 11:59 pm
Laura M. Rust, MS, CGC; Paige Hazelton, MS, CGC; Joe Farris, PhD; Matheus Wilke, MD. Ph.D.; Eric W. Klee, PhD; Whitney Thompson, M.D. M.Phil; Sarah A. Thurman, MD; Lisa A. Schimmenti, MD, FACMG; Brendan Lanpher, MD
(P425) Rare case of double aneuploidy chromosomes 20q-21q, the importance of precision medicine in the new era
Wednesday, 4:00 pm - 11:59 pm
Diana Blandon, MS; Jairo A. Medina-Chazatar, Student; Sthepania Mapura-Alvarez, MD; Lina J. Moreno-Giraldo, MD, MSc, PhD
(P716) Real-world Implications of New Population Genomic Datasets for Clinical Variant Interpretation
Wednesday, 4:00 pm - 11:59 pm
Runjun D. Kumar, MD, PhD; Sarah A. Paolucci, MS, CGC; Brittany Williams, GCA; Jillian G. Buchan, PhD, FACMG
(P344) Renal Failure in an Infant with PAX2 Whole-Gene Duplication
Wednesday, 4:00 pm - 11:59 pm
Kareem Zuhdi, MSc; Judith Ranells, Dr., MD; Kara Morgan, DNP, APRN, LCGC; Meghan Kelley, MSPH, CGC
(P090) Results from The Genetic Risk Analysis In Ovarian Cancer (GRACE) Study
Wednesday, 4:00 pm - 11:59 pm
Alan F. Rope, MD, FACMG; Jamilyn M. Zepp, MS, CGC; Yolanda K. Prado, BS, CCRP; Ana A. Reyes, BA; Mahesh Maiyani, MBA; Jennifer Sawyer, BA; Larissa L. White, PhD, MPH; Sarah Vertrees, BS; Sheila Weinmann, PhD, MPH; Sandra S. Lee, PhD; Nora B. Henrikson, PhD, MPH; Heather S. Feigelson, PhD, MPH; Jessica E. Hunter, PhD
(P164) Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing
Wednesday, 4:00 pm - 11:59 pm
Toby R. Manders, MD; Yuya Kobayashi, PhD; Alex Wahl, PhD; Baxter Eaves, PhD; Flavia M. Facio, MS, CGC; Michael Korn, MD; Britt A. Johnson, PhD, FACMG; Keith Nykamp, PhD
(P680) Segregation outcomes of embryos undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) in the setting of a familial reciprocal translocation
Wednesday, 4:00 pm - 11:59 pm
Jeannie Klavanian, MS; Stephanie Hill, MS, CGC; Jessica Adsit, MS, CGC; Nina Wemmer, MS, CGC; Jeffrey Meltzer, MD, MBA, FACOG; Katrina Merrion, MS
(P218) SMAD6 Variants in Congenital Heart Disease
Wednesday, 4:00 pm - 11:59 pm
Marci LB. Schwartz, MS, CGC; Olivia M. Moran, MSc, MSc; Xin Chen, PhD; Roozbeh Manshaei, PhD; Kelsey Kalbfleisch, MSc/CGC, CCGC; Raymond H. Kim, MD; Rebekah K. Jobling, MD
(P657) Structural Variants Identified by Short-read Genome Sequencing Solves Missing Heritability in Retinal Dystrophies
Wednesday, 4:00 pm - 11:59 pm
Ehsan Ullah, PhD; Amelia Naik, BS; Chelsea Bender, BS; Delphine Blain, MBA, ScM, CGC; Laryssa A. Huryn, MD; Robert B. Hufnagel, MD, PhD, FACMG; Bin Guan, PhD, FACMG
(P179) The ClinGen Pharmacogenomics Working Group: Developing Frameworks for Evaluating Pharmacogenomic Gene Validity and Actionability
Wednesday, 4:00 pm - 11:59 pm
Li Gong, PhD; Michelle Whirl-Carrillo, PhD; Stuart A. Scott, PhD, FACMG; Ann Moyer, MD, PhD; Clarissa J. Klein, BA; Teri E. Klein, PhD; Kelly E. Caudle, Pharm.D., Ph.D., BCPS, FCCP
(P159) The eXtraordinarY Babies Study: Familial and perinatal predictors of 36-month language outcomes in prenatally diagnosed sex chromosome trisomy
Wednesday, 4:00 pm - 11:59 pm
Nicole Tartaglia, MD, MS; Jennifer Janusz, PhD; Talia Thompson, PhD, NCSP; Rebecca Wilson, PsyD; Courtney Paisley, PhD; Samantha Bothwell, MS; Kayla Nacon, BA; Richard Boada, PhD; Shanlee Davis, MD,PhD; Judith Ross, MD; Susan Howell, MS, CGC, MBA
(P516) The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing
Wednesday, 4:00 pm - 11:59 pm
Marc Clausen, MA; Stephanie Luca, MA; Emma Reble, MSc; Rita Kodida, MSc, CCGC; Saumeh Saeedi, BSc.; Daena Hirjikaka, BSc; Lauren Chad, MD; Gregory Costain, MD, PhD, FRCPC; Hanna Faghfoury, MD, FRCPC, FCCMG; Josh Silver, MSc; Serena Shastri-Estrada26, OT; Maureen Smith, MEd; Robin Z. Hayeems, ScM, PhD; Yvonne Bombard, PhD
(P717) The Landscape of Clinical Geneticists’ Perspectives and Practices in India
Wednesday, 4:00 pm - 11:59 pm
Sushma Ms. Patil, MSc; Udhaya Kotecha, MD Pediatrics, Fellowship in Clinical Genetics; Sheetal Sharda, Dr, MD [Paediatrics]; DM [Medical Genetics]; MNAMS; Nidhi Shah, MD; Parth S. Shah, MD
(P586) The qMini Assay Identifies an Overlooked Class of Splice Variants
Wednesday, 4:00 pm - 11:59 pm
Bin Guan, PhD, FACMG; Chelsea Bender, BS; Robert B. Hufnagel, MD, PhD, FACMG
(P575) The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease
Wednesday, 4:00 pm - 11:59 pm
Christina Austin-Tse, PhD, FACMG; Stephanie DiTroia, PhD; Melanie O'Leary, MS; Grace E. VanNoy, MS; Brian Mangilog, BA; Gulalai Shah, BA; Eva Martinez, BA; Jillian Serrano, BA; Lynn Pais, MS; Emily O'Heir, BS; Ikeoluwa Osei-Owusu, PhD; Gabrielle Lemire, MD; Vijay S. Ganesh, MD, PhD; Sarah Stenton, MD, PhD; Mutaz Amin, MD, PhD; Kayla M. Socarras, PhD; Mugdha Singh, PhD; Stacey Hall, MPH; Katie Larsson, PMP; Moriel Singer-Berk, MS; Daniel Marten, BS/MS; Michael W. Wilson, BS; Hana Snow, BSE; Benjamin Blankenmeister, BS; Jialan Ma, MS; Ben Weisburd, BS; Alba Sanchis-Juan, PhD; Harrison Brand, PhD; Emily Groopman, M.D., Ph.D.; Alysia Lovgren, PhD; Clara E. Williamson, BS; Marissa Hollyer, MS, LCGC; Eleina England, MS; Eleanor G. Seaby, MD; Katherine R. Chao, BSc; Julia K. Goodrich, PhD; Samantha Baxter, MS, CGC; Daniel G. MacArthur, PhD; Michael E. Talkowski, Ph.D; Monica H. Wojcik, MD; Anne H. O'Donnell-Luria, MD, PhD, FACMG; Heidi L. Rehm, PhD, FACMG
(P535) The Undiagnosed Rare Disease Clinic Program of Indiana University: lessons learned from the first 100 patients enrolled (Phase-I pilot)
Wednesday, 4:00 pm - 11:59 pm
KHURRAM LIAQAT, PhD; Francesco Vetrini, PhD, FACMG; Erin E. Conboy, MD, FACMG; Kayla Treat, MS, CGC; Lili R. Mantcheva, MPH, CCRP; Marco Abreu, MS; Tae-Hwi L. Schwantes-An, PhD, MS; Kevin T. Booth, PhD; Reynold Ly, PhD; Amy M. Breman, PhD; Marwan Tayeh, PhD, MS, FACMG; Benjamin M. Helm, MS, CGC; Brett H. Graham, MD, PhD; Stephanie M. Ware, MD, PhD
(P619) Three years of newborn screening for MPS1 in Ontario: challenges of screening for the severe end of a disease continuum.
Wednesday, 4:00 pm - 11:59 pm
Melanie Lacaria, PhD, DABMGG, FCCMG, FACMG; Matthew Henderson, PhD, FCACB, FCCMG, FACMG; Kristin D. Kernohan, PhD, FCCMG; Ed Yeh, PhD; Sara Fernandez, MSc; Kelsey Kalbfleisch, MSc, CGC; Pranesh Chakraborty, MD, FRCPC, FCCMG
(P656) Title: Improved diagnostic paradigm using Optical Genome Mapping (OGM) for cytogenomic testing for recurrent pregnancy loss and infertility.
Wednesday, 4:00 pm - 11:59 pm
Susan F. Crocker, PhD; Andrea Guerin, BSc, MD, MEd, FRCPC, FCCMG; Henry Wong, PhD; Calvin Sjaarda, PhD; Maria P. Velez, MD, PhD, FRCSC; Bob Argiropoulos, PhD, FCCMG; Kate Alliston, BSc, MLT
(P579) Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Lucilla Pizzo, PhD; Tracey Lewis, PhD; Ashini Bolia, PhD; Brendan O'Fallon, PhD; Erica F. Andersen, PhD, FACMG; Hunter Best, BS, PhD, FACMG
(P679) Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders
Wednesday, 4:00 pm - 11:59 pm
Babi Nallamilli, PhD, FACMG; Jagannathan Lakshmanan, PhD; Vinish Ramachander, PhD; Supan Dhillon, MS; Ruby Liu, MS, PhD; Yinghong Pan, PhD; Naga M. Guruju, PhD, FACMG; Christin D. Collins, PhD, FACMG; Lora H. Bean, PhD; Madhuri Hegde, PhD, FACMG
(P695) Uncertainty in Interpretation of GAA Variants Detected Through Newborn Screening without Clinical Manifestation of Pompe Disease
Wednesday, 4:00 pm - 11:59 pm
Dona Kanavy, PhD; Jenny Goldstein, PhD, CGC; Filippo Pinto e Vairo, M.D., Ph.D; Deeksha S. Bali, PhD, FACMG; Taraka Donti, PhD, FACMG; Shelly Goomber, PhD; Jennifer McGlaughon, PhD; Yinghong Pan, PhD; Bryce A. Seifert, PhD, FACMG; Raquel Fernandez, BS; Emily Kyle, BS; Meredith A. Weaver, PhD; Lorne Clarke, MD; Catherine W. Rehder, PhD, FACMG; Xiangwen Chen-Deutsch, PhD, FACMG
(P643) Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis
Wednesday, 4:00 pm - 11:59 pm
Yinghong Pan, PhD; Fen Guo, PhD, FACMG, FCCMG; Zeqiang Ma, PhD; Babi Ramesh Reddy Nallamilli, PhD; Ruby Liu, MS, PhD; Kayla Quirin, MS, CGC; Ann Martin, MS, CGC; Madhuri Hegde, PhD, FACMG
(P603) Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients
Wednesday, 4:00 pm - 11:59 pm
Lucilla Pizzo, PhD; Jian M. Zhao, PhD; Adam L. Clayton, PhD; Julie Feusier, PhD; Coumarane Mani, PhD; Zoe K. Lewis, MS, CGC; Rachel M. Lasher, MS, CGC; Denise Quigley, PhD; Katharine Rudd, PhD; Erica F. Andersen, PhD, FACMG; Bo Hong, MD, FACMG
(P519) Utilization of One Month Follow-Up to Increase Uptake of Genetic Counseling Appointments in a Healthcare-based Population Genomic Screening Cohort
Wednesday, 4:00 pm - 11:59 pm
Alison L. Cercy, BS; Juliann M. Savatt, MS, CGC; Cassidi D. Kalejta, MS, CGC; Melissa A. Kelly, MS, CGC; Miranda LG. Hallquist, MSc, CGC; Cara Z. Mccormick, MPH
(P097) Validation of a clinical test for Genome-wide Homologous Recombination Deficiency Signatures in Solid Tumours
Wednesday, 4:00 pm - 11:59 pm
Felix EG. Beaudry, PhD; Iain Bancarz, PhD; Alexander J. Fortuna, MSc; Aqsa Alam, MSc; Trevor J. Pugh, PhD
(P261) Vestronidase Alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
Wednesday, 4:00 pm - 11:59 pm
Antonio Gonzalez-Meneses, MD; Deborah Marsden, MD; Roberto Giugliani, MD, PhD; Christina L. Grant, MD, PhD; Maurizio Scarpa, MD, PhD; Angela Sun, MD; Raymond Y. Wang, MD; Barbara K. Burton, MD; Ans T. van der Ploeg, MD PhD; Esmeralda Martins, MD; Consuelo Durand, MD; Brigitte Chabrol, MD; Joel Hetzer, PhD; J. Lawrence Merritt II, MD
(P054) When to look for Homocystinuria: preliminary results from HCU network America’s patient surveys.
Wednesday, 4:00 pm - 11:59 pm
Kimberly A. Chapman, MD, PhD, FACMG; Vanessa Vogal-Farley, BS; Danae' Bartke, B.S.Ed
(P135) X-linked Alport Syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids
Wednesday, 4:00 pm - 11:59 pm
Hassan Saei, PhD Candidate; Marie Boisson, MSc; Christelle Arrondel, MSc; Bruno Estebe, MSc; Nicolas Cagnard, MSc; Marc Bras, MSc; Vincent Morinière, MSc; Zaïna Aït Arkoub, MSc; Laurence Heidet, MD-PhD; Olivier Gribouval, MSc; Patrick Nitschké, PhD; Corinne Antignac, MD-PhD; Géraldine Mollet, PhD; Guillaume Dorval, MD-PhD
(P176) 20,000 Type 1 Diabetes (T1D) Exome Cohort In Ukraine
Wednesday, 4:00 pm - 11:59 pm
Khrystyna Shchubelka, MD-PhD; Walter Wolfsberger, PhD; Taras Oleksyk, PhD
(P468) 22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication
Wednesday, 4:00 pm - 11:59 pm
Zachary Spahr, BA; Jennifer Black, MS, CGC; Scott C. Smith, PhD, FACMG; Robert RO. Lebel, MD
(P754) 2q22.1q22.3 microdeletion – a case report and literature review
Wednesday, 4:00 pm - 11:59 pm
Yanwei Xi, PhD, DABMGG, FACMG; Svetlana Lai, CGT; Nelly AbdelFatah, PhD; Kellie Davis, MD, FRCPC, FCCMG; Zafar Nawaz, PhD,FACMG
(P452) A 33-year-old male diagnosed with Pitt-Hopkins Syndrome: The Spectrum Broadens
Wednesday, 4:00 pm - 11:59 pm
Jeffrey S. Baek, Undergraduate; Jayden Lee, Undergraduate; Hua Wang, M.D Ph.D
(P397) A Case of Congenital Myasthenic Syndrome with AChR Deficiency due to Biallelic Variants in CHRNE Gene
Wednesday, 4:00 pm - 11:59 pm
Aashish Batheja, MPH; Julie Bayer-Vile, MS, CGC; Evan Silverstein, MD; Natario Couser, MD
(P407) A Case of Homozygous LMNA c.991C>T (p.Arg331Trp) Laminopathy with Predominant Cardiomyopathy.
Wednesday, 4:00 pm - 11:59 pm
Rosalie Sterner, MD, PhD; Lea M. Coon, MS, CGC; John L. Black, MD; Joseph J. Maleszewski, MD; Ann Moyer, MD, PhD; Linnea Baudhuin, PhD
(P116) A Clinical Algorithm to Guide Mainstreaming in Pediatric Oncology in Quebec
Wednesday, 4:00 pm - 11:59 pm
Leora Witkowski, PhD, FACMG, FCCMG; Catherine Goudie, MD; William D. Foulkes, MBBS, PhD; Evan Weber, MS, CGC; Laura Palma, MS, CGC; Anne-Marie Laberge, MD, MPH, PhD; Vincent-Philippe Lavallée, MD, PhD; Andrea Liliam Gomez Correedor, PhD, FACMG, FCCMG; Sonia Cellot, MD, PhD; Loubna Jouan, PhD; Alexandre Rouette, PhD; Thai-Hoa Tran, MD; Lara Reichman, MS, CGC
(P670) A Collaborative Model Integrating Clinical Genetics and Molecular Pathology for Tumor/Normal Paired Whole Exome Sequencing Testing
Wednesday, 4:00 pm - 11:59 pm
Yi Liu, MS; Mark Raffeld, MD; Ina Lee, MD, PhD; Antonios Papanicolau-Sengos, MD; Frederic Barr, MD, PhD; Stephen Hewitt, MD, PhD; Liqiang Xi, MD; Christina K. Ferrone, PhD; Svetlana Pack, PhD; Jung Kim, PhD; Manoj Tyagi, PhD; Kathleen A. Calzone, PhD, RN, AGN-BC, FAAN; Chimene Kesserwan, MD; Kenneth Aldape, MD; Margarita Raygada, PhD, MSC; Hermi Mesfin, BS; Grace-Ann Fasaye, ScM, CGC; Alexandra Lebensohn, MS, CGC
(P766) A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders
Wednesday, 4:00 pm - 11:59 pm
Noa Liscovitch-Brauer, PhD; Ravit Mesika, MSc; Tom Rabinowitz, PhD; Hadas Volkov, MSc; Meitar Grad, MSc; Reut Tomashov Matar, PhD; Lina Basel-Salmon, MD PhD; Oren Tadmor, BSc; Amir Beker, PhD; Noam Shomron, PhD
(P088) A comprehensive approach to evaluate genetic abnormalities in plasma cell neoplasms using optical genome mapping and next-generation sequencing
Wednesday, 4:00 pm - 11:59 pm
Ying Zou, MD, PHD, FACMG; Melanie Klausner, MS, CG(ASCP); Jen Ghabrial, ASCP; Victoria Stinnett, ASCP; Laura Morsberger, ASCP; Patty Long, ASCP; Katie Beierl, ASCP; Jaclyn Murry, PhD, FACMG; Christian Gocke, MD; Christopher Gocke, MD
(P659) A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants.
Wednesday, 4:00 pm - 11:59 pm
Leda Torres, PhD; Pedro Reyes, PhD(c); Benilde García-de Teresa, MD, PhD(c); María Teresa Villarreal Molina, MD PhD; Ulises Juárez, MSc, PhD(c); Angélica Solis, MSc; Moises O. Fiesco-Roa, MD, MSc, PhD(c); Fernando Pérez Villatoro, PhD(c); Bertha Molina, MSc, PhD(c); Alfredo Rodríguez, PhD; Alessandra Carnevale, MD; Sara Frías, PhD
(P483) A Comprehensive Study of Spinal Muscular Atrophy Testing Referrals’ Data Among the Iranian Population Since 2006
Wednesday, 4:00 pm - 11:59 pm
Ali Khanbazi, Ms; Maryam Beheshtian, MD, PhD; Maryam Azad, Ms; Masoume Akbari, Ms; Fariba Afrozan, MD; Fatemeh Fatehi, MSc; Khadijeh Noudehi, MSc; Shima Zamanian Najafabadi, MSc; Ariana Kariminejad, MD; Kimia Kahrizi, MD; Hossein Najmabadi, PhD
(P510) A Descriptive Analysis of Genetic Factors Identified in 100% Pediatric Mortality Review
Wednesday, 4:00 pm - 11:59 pm
Isabella Giret, BA; Janhvi Parsai, BA; Annie Pan, BS; Yasheel Pandya, BS, BA; Fekadu Ayalew, PH Grad; Olivia Lounsbury, Quality and Safety Program Coordinator; Ann Kane, MD; Joann Bodurtha, MPH, MD, FACMG, FAAP
(P836) A Framework and Implementation of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School
Wednesday, 4:00 pm - 11:59 pm
Fabiola Quintero-Rivera, MD; Sabrina Nuñez, PhD; Jonathan A. Bernstein, MD, PhD; David P Gardner David P Gardner, PhD; Aditi Parikh, MD, FACMG; Erin T. Strovel, PhD; Myla Ashfaq, MS; Renee J LeClair Renee J LeClair, PhD; Lauren J. Massingham, MD
(P834) A Genetic Counselors Watchlist: Framework for Gene Discovery
Wednesday, 4:00 pm - 11:59 pm
Natalie C. Lippa, MS, CGC; Louise Bier, MS, CGC; Maureen Mulhern, MS, CGC; Parisa Hemati, MS, CGC; Halie May, MS, CGC; Michelle Florido, MS, CGC; Sulagna Tina Kushary, MS, CGC; Natalie Vena, MS, CGC; Anya Revah-Politi, MS, CGC
(P161) A Genetics-First Approach to Identify Novel Variants of the Calcium Sensing Receptor Associated with Autosomal Dominant Hypocalcemia Type 1
Wednesday, 4:00 pm - 11:59 pm
Jeremy B. Chang, PhD; Marcus M. Soliai, PhD; Connor P. Barnhill, BA; Lyndsay M. Smith, PhD; Arun S. Mathew, PharmD, MBA, MPS, MPH; Alexander M. Apostolov, MS; Ben W. Dulken, MD, PhD; Aleksandr Petukhov, BS; Ananth V. Sridhar, MBA; Christoph Lange, PhD; Russ Altman, PhD; Scott H. Adler, MD; Mary Scott Roberts, MD; Jonathan C. Fox, MD, PhD; Sun-Gou Ji, PhD; Caroline M. Gorvin, PhD
(P248) A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population
Wednesday, 4:00 pm - 11:59 pm
Karyn Meltz Murphy, PhD; Rebecca Torene, PhD, MMSc; Melissa A. Kelly, MS, CGC; Christa L. Martin, PhD, FACMG; Kyle Retterer, MS
(P486) A Global Delphi Consensus Approach to Monitoring and Integrated Care Coordination of Patients with Alpha-Mannosidosis
Wednesday, 4:00 pm - 11:59 pm
Can Ficicioglu, MD,PhD; Nicole M. Muschol, MD; Barbara K. Burton, MD; Martin Magner, MD, PhD., MBA; Mercedes Gil-Campos, PhD; Monica Rodriguez-Lopez, M.D., Ph.D.; Parul Jayakar, MD, MS, FACMG; Allan Lund, MD, DMSc; Galit Tal, MD; Jose Elias Garcia-Ortiz, MD; Karolina Stepien, MD; Carolyn Ellaway, MBBS PHD; Walla Al-Hertani, MD, MS, FRCPC, FCCMG, FACMG; Roberto Giugliani, MD, PhD; Sara S. Cathey, MD; Julia B. Hennermann, MD; Christina Lampe, MD; Markey C. McNutt, II, MD, PhD; Florian Lagler, MD; Maurizio Scarpa, MD, PhD; Vernon R. Sutton, MD; Nathalie Guffon, MD
(P860) A Health Systems Framework to Advance Equity in Medical Genetics Policy and Practice
Wednesday, 4:00 pm - 11:59 pm
Muna Aden, MPH; Raymond H. Kim, MD, PhD, FRCPC, FCCMG, FACMG; Kathleen Bell, MSc; Andrea Guerin, BSc, MD, MEd, FRCPC, FCCMG
(P412) A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with Dystrophinopathy
Wednesday, 4:00 pm - 11:59 pm
Jeny Bazalar-Montoya, MD; Richard S. Rodriguez, MD; Giulliana Chávez-Pasco, MD; Peggy Martínez-Esteban, MD; Revathi Rajkumar, PhD; Akanchha Kesari, PhD, FACMG; Carolyn M. Brown, MSc CGC; Erin Thorpe, MS, CGC; Ryan J. Taft, PhD; Gioconda Manassero-Morales, MD
(P329) A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres
Wednesday, 4:00 pm - 11:59 pm
Tanvi Anandampillai, BSc, MHSc; Peter Kannu, Dr., MD, PhD; Yigal Dror, MD; Irene Lara-Corrales, MD, MSc; Yiming Wang, MD, PhD, FRCPC; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC
(P562) A Model for Genetic Counselor Result Triage in a Busy Pediatric Neurology Division
Wednesday, 4:00 pm - 11:59 pm
Kirsten Blanco, MS, CGC; Melissa Gabriel, MS, CGC; Ashley Mills, MS, CGC; Christina Cook, RN, MSHCM, CPN; Vandana Mehta, MS; Shafali Jeste, MD; Tena Rosser, MD; Matthew A. Deardorff, MD, PhD
(P637) A Newly Derived DNA Methylation Signature for Koolen de Vries Syndrome Addresses the Diagnostic Challenges of the 17q21.31 Locus
Wednesday, 4:00 pm - 11:59 pm
Zain Awamleh, PhD; Sanaa Choufani, PhD; Dmitrijs Rots, PhD; Alexander JM. Dingemans, PhD; Juan Dario Ortigoza Escobar, MD; David A. Koolen, MD PhD; Bert de Vries, MD; Rosanna Weksberg, MD PhD
(P629) A novel 198 kb partial duplication in KMT2C: report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma
Wednesday, 4:00 pm - 11:59 pm
Rishabh Gaur, BA/MD in progress; John Herriges, PhD; Isabelle Thiffault, PhD, MsC, FABMGG; Julie Joyce, BA; Eric T. Rush, MD; Elena A. Repnikova, PhD
(P559) A Novel Alternate Service Delivery Model for Genetic Counselling in a Rural Population: The New Brunswick Experience
Wednesday, 4:00 pm - 11:59 pm
Katherine Hodson, MSc, CGC, CCGC; Yun Zhu, PhD, MSc; Lynn Macrae, M.Sc., CCGC; Mouna Ben Amor, MD
(P363) A Novel Case of Coffin-Siris Syndrome due to Duplication in 6q25.3
Wednesday, 4:00 pm - 11:59 pm
Shao Ching Tu, MD; Hoanh Nguyen, MD; Freddy-May AbiSamra, MS
(P712) A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype Specificity Criteria for Sequence Variant Pathogenicity Classification
Wednesday, 4:00 pm - 11:59 pm
Leslie G. Biesecker, MD; Alicia B. Byrne, PhD; Steven M. Harrison, PhD, FACMG; Tina Pesaran, MS, CGC; Alejandro Schäffer, PhD; Brian H. Shirts, PhD; Sean V. Tavtigian, PhD; Heidi L. Rehm, PhD, FACMG
(P470) A Novel Inherited Frameshifting Variant in UBA2 Gene: A Case Study of Highly Variable Phenotype in a Family
Wednesday, 4:00 pm - 11:59 pm
Kanika Parashar, MBBS; Kristen Wigby, MD; Annette Feigenbaum, MBChB, FRCP, DABMG; Miguel Del Campo, MD PhD
(P436) A Novel Pathogenic Variant in NALCN Gene in a Newborn with CLIFAHDD Syndrome
Wednesday, 4:00 pm - 11:59 pm
Burak Altintas, MD; Nathaniel R. Jensen, MD, PhD; Shao Ching Tu, MD; Sara Pajouhanfar, MD; Korre L. Fairman, DO; Catherine Gooch, MD
(P446) A novel SLC9A6 variant identified in an autistic boy with epilepsy- Christianson Syndrome
Wednesday, 4:00 pm - 11:59 pm
Punita Gupta, MD, FACMG; Lorien King, MS, LCGC; Leah Fried, MS, CGC
(P314) A Novel STAG1 Variant Causing Developmental Delay, Failure to Thrive, Hypotonia, and Recurrent Infections
Wednesday, 4:00 pm - 11:59 pm
Stephanie L. Safgren, Stephanie Safgren; Sarah A. Thurman, MD; Joseph D. Farris, PhD; Michael T. Zimmermann, PhD; Raul A. Urrutia, MD; Eric W. Klee, PhD; Myra J. Wick, MD, PhD, FACMG
(P549) A novel team approach to evaluating and counselling children with variants of uncertain significance on microarray
Wednesday, 4:00 pm - 11:59 pm
Julia X. Su, MS; Marjan M. Nezarati, Dr., MD; Giuseppe A. Latino, Dr., MD; Amy Sirkin, Ms., BSc.; Ali Bashar, Mr., NA; Melissa Cornthwaite, MS., MSc.
(P620) A PCR/Nanopore Assay for Accurate Variant Detection in Hard-to-Decipher Carrier Screening Genes with Automated Analysis Software
Wednesday, 4:00 pm - 11:59 pm
Bryan J. Killinger, PhD; Cody Edwards, BS; Christopher J. Fraher, BS; Jon N. Kemppainen, BS; Monica P. Roberts, MS; Theodore Markulin, BS; Jonathan Turner, MS; Brennan Greenlee, PhD; Julliette A. Baker, MS; Connor Parker, MS; Brian C. Haynes, PhD; Bradley Hall, PhD
(P140) A Rare Phenomenon: Double Trisomy Rescue Detected During Clinical SNP Microarray Testing
Wednesday, 4:00 pm - 11:59 pm
Andrea L. Penton, PhD, FACMG; Peter Papenhausen, PhD, FACMG; Stuart Schwartz, PhD, FACMG; Anh Vu, PhD, FACMG; Gloria Haskell, PhD, FACMG
(P079) A recurrent POT1 Germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
Wednesday, 4:00 pm - 11:59 pm
Aasem Abu Shtaya, MD; Inbal Kedar, Msc; Lily Bazak, PhD; Lina Basel-Salmon, MD PhD; Marina Eskin-Schwartz, MD; Ohad S. Birk, MD; Shirley Polager-Modan, Msc; Nitzan Keidar, Msc; Gili Reznick Levi, Msc; Zohar Levi, MD; Ori Segol, MD; Noy Azulay, Msc; Yael Goldberg, MD; Michal Naftali, Phd
(P739) A Recurrent Partial Trisomy 9 and 18 Chromosome in Siblings Resulting from 3:1 Meiotic Segregation of a Maternal Balanced Translocation
Wednesday, 4:00 pm - 11:59 pm
Carter Wright, PhD; Angela E. Scheuerle, MD, FAAP, FACMG; Kathleen P. Wilson, MD; Rolando García, PhD, FACMG; Prasad Koduru, PhD, FACMG
(P698) A Streamlined Testing of Mosaic Maternal Isodicentric Supernumerary Chromosome 15q11.2q13 [idic(15)]
Wednesday, 4:00 pm - 11:59 pm
Ping Yang, PhD, FACMG; Sharan Goobie, FRCPC, FCCMG; Victoria Siu, MD, FRCPC, FCCMG
(P724) A Unique Presentation of Triple X Syndrome with Four Copies of SHOX and Additional Low-Level Aneuploidy Mosaicism
Wednesday, 4:00 pm - 11:59 pm
Joanna Spaulding, MS; Farah Ammouri, MS, CGC; Shelly Nielsen, MS, CGC; Zephyr VanDyke, BS, CG(ASCP)CM; Haley Koerselman, BS, CG(ASCP)CM; Dianna Zaleski, BS, CG(ASCP)CM; Pamela Althof, MS, CG(ASCP)CM; Dinesh Lulla, MD
(P217) Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
Wednesday, 4:00 pm - 11:59 pm
Donna M. McDonald-McGinn, MS, LCGC; Victoria Giunta, BS; T. Blaine Crowley, BS; Daniel E. McGinn, MS; Lydia Rockart, BS; Audrey Green, BS; Beverly S. Emanuel, PhD; Rosemarie Smith, MD; Ellen Moran, MS, CGC; Maciej Geremek, MD, PhD; Elaine Zackai, MD; Beata Nowakowska, PhD
(P801) Abortion preferences of patients with abnormal prenatal genetic diagnosis in an access-restricted state
Wednesday, 4:00 pm - 11:59 pm
Steven G. Carlisle, BS; Rachel L. Wiley, MD; Jack A. Colleran, MS; Blair Stevens, MS
(P850) Accelerated Optical Genome Mapping Analysis with Stratys Compute and Guided Assembly
Wednesday, 4:00 pm - 11:59 pm
Damla Senol Cali, PhD; Thomas Anantharaman, PhD; Martin D. Muggli, PhD; Samer Al-Saffar, MS; Neil Miller, PhD; Charles Schoonover, BA
(P052) Acute Liver Failure in a Toddler with Known Classic Galactosemia Due to Exposure to Lactaid Milk
Wednesday, 4:00 pm - 11:59 pm
Lily Walson, MD, MS; Caitlin Flatley, MS, RD, LD; angela wittenauer, MSN,FNP-C,RN; Hong Li, MD, PhD, FACMG
(P085) Addition of new Variant Classes to the CIViC data model
Wednesday, 4:00 pm - 11:59 pm
Arpad M. Danos, PhD; Kilannin Krysiak, PhD, FACMG; Jason Saliba, PhD; Adam Coffman, MS; Susanna Kiwala, MS; Joshua McMichael, BS; Cameron J. Grisdale, PhD; Mariam Khanfar, BS; Malachi Griffith, PhD; Obi L. Griffith, PhD
(P707) Additional Evidence Supporting and Expanding the Phenotype Associated with MED12L Loss-of-Function Variants
Wednesday, 4:00 pm - 11:59 pm
Kristen J. Rasmussen, MS, CGC; Cassandra K. Runke, MS, CGC; Sarah S. Barnett, MS, CGC; Hutton M. Kearney, PhD; Erik C. Thorland, PhD
(P753) Additional Significant Findings in Individuals with Ashkenazi Jewish Founder Variants
Wednesday, 4:00 pm - 11:59 pm
Michele S. Basiliere, MS; Erin C. Nordquist, MS; Elaine C. Weltmer, MS
(P481) Adherence with NCCN Recommendations for Patients with Pathogenic/Likely Pathogenic Variants in BRCA1 and BRCA2, a Single Institution Study
Wednesday, 4:00 pm - 11:59 pm
Jenny L. Soiffer, MD, MPH; Caleb Dafilou, MD, MPH; Hilary J. Lowitz, BS; Anna Karlsen, MS, CGC; Emily Suskin, MS, CGC; Susan D. Klugman, MD, FACMG; Zenobia Gonsalves, MD; Sara S. Rabin-Havt, MD
(P840) Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients
Wednesday, 4:00 pm - 11:59 pm
Sebastien Audet, MSc; Martine Tetreault, PhD; Antoine Duquette, Dr., MD, PhD; Valerie Triassi, MSc; Myriam Gelinas, MD Student; Carolane Charest, Undergrad
(P348) Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian Diseases
Wednesday, 4:00 pm - 11:59 pm
jan verheijen, PhD; Nancy William, PhD; Marta Figueiral, MD; Rory Olson, PhD; Deepak Panwar, PhD; Collin Osborne, MS; filippo Pinto e Vairo, M.D., Ph.D; Eric W. Klee, PhD
(P597) All for One Clinical Genomics Network: Linking Canadian Diagnostic Laboratories to Share Genome-wide Sequencing Data to Support Rare Disease Diagnosis
Wednesday, 4:00 pm - 11:59 pm
E Magda Price, PhD; Meredith K. Gillespie, MSc; Caitlin Chisholm, MSc; Ruben Attali, PhD; Talia Silver, MHSc; Anna Szuto, MSc; Jacques L. Michaud, MD; Dennis E. Bulman, PhD; Jordan Lerner-Ellis, PhD; Ma'n H. Zawati, LL.B., LL.M., Ph.D.; Vincent Ferretti, PhD; Francois Bernier, MD, FCCMG, FRCPC; Christian Marshall, PhD, FACMG, FCCMG; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; GSO Study Team, NA
(P371) Alternative Diagnoses of PHACES Syndrome with Overlapping Features
Wednesday, 4:00 pm - 11:59 pm
Ecenur Tuc Bengur, MD; Leo Shmuylovich, MD, PhD; Maithilee Menezes, MD; Katherine King, MD
(P792) Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age
Wednesday, 4:00 pm - 11:59 pm
Yoel Gofin, MD; Ran Svirsky, MD; Dana Lavi Ben Atav, PhD; Meytal Liberman, MSc; Tamar Tenne, PhD; Rivka Sukenik-Halevy, MD
(P640) Amplification and Long-Read Sequencing of the Mitochondrial Genome
Wednesday, 4:00 pm - 11:59 pm
Julianna Spangler, MS; Aaron Johnson, MS; Jessica Noya, MS; Shamila Yusuff, PhD; Rhonda Brandon, MS; Kathleen S. Hruska, PhD, FACMG; Lucas Lochovsky, PhD; Jason Chin, PhD; Gustavo Stolovitzky, PhD; Scott Newman, PhD; Joseph M. Devaney, PhD
(P585) Amplification-Based Nanopore Sequencing Accurately Detects HBA and HBB SNVs, Indels, and Structural Variants in Clinical Thalassemia Samples
Wednesday, 4:00 pm - 11:59 pm
Jaime Lopes, PhD, FACMG; Marcus Cannon, BS; Jonathan Turner, MS; Monica P. Roberts, MS; Theodore Markulin, BS; Christopher J. Fraher, BS; Bryan J. Killinger, PhD; Stela Filipovic-Sadic, MS; Bradley Hall, PhD
(P409) An Alpha-mannosidosis journey to the diagnosis: A case report and literature review
Wednesday, 4:00 pm - 11:59 pm
Alissa Suarez, MS; Nathália Neves, MS; Vinícius S. Motizuki, MS; Mireille Gomes, MD
(P323) An atypical presentation in a child with PTPN11 Noonan syndrome due to TRIO-related neurodevelopmental disorder
Wednesday, 4:00 pm - 11:59 pm
Jamie K. Motta, MSN-FNP; Evgenia Sklirou, MD, FACMG; Suneeta Madan-Khetarpal, MD, FACMG; Katherine Cioffi, MS, CGC
(P170) An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
Wednesday, 4:00 pm - 11:59 pm
Amina Kozaric, PhD; Moriel Singer-Berk, MS; Jordan Wood, BS; Samantha Baxter, MS, CGC; Mark J. Kiel, MD, PhD; Amanda Hope, BS; Leena Panwala, BA; Stephanie Heinrich, MS; Emily Evangelista, MS
(P718) Analytical Validation of a Comprehensive Targeted DNA Sequencing Panel for Hematologic Malignancies
Wednesday, 4:00 pm - 11:59 pm
Haimeng Tang, MS; Ruoying Yu, PhD; Hua Bao, PhD; Rui Liu, MS; Liuqing Zhu, PhD; Kaihua Liu, PhD; Sisi Liu, PhD; Xue Wu, PhD; Yang Shao, PhD; Yong Wu, MS
(P715) Analyzing Performance of the Twist Exome with CNV Backbone at Various Probe Densities Leveraging Golden Helix VS-CNV
Wednesday, 4:00 pm - 11:59 pm
Nathan Fortier, PhD; Tina Han, PhD; Alonzo Lee, Bachelor of Science; Tanya Tannous, Master of Science; Gabe Rudy, Master of Science; Andreas Scherer, PhD; Alessandro Davassi, Master of Science
(P465) Aplasia cutis congenita associated with trisomy 21, a unique presentation in a 5-month-old female
Wednesday, 4:00 pm - 11:59 pm
Elizabeth Otersen, MD; Catherine Cahill, DO; Matthew Busch, MD; Marshall Herbst, MD; Katherine L. Mascia, MD
(P390) Assessing and addressing the burden of VUSs within adult medical genetics practices
Wednesday, 4:00 pm - 11:59 pm
Andrew B. Stergachis, MD, PhD, FACMG; Andrew Folta, BA; Adriana Sedeno-Cortes, MS; Merin Jose, MD; Martha Horike-Pyne, MPH; Abbye E. McEwen, MD, PhD; Shawn Fayer, MS; Lea M. Starita, PhD; Marianne E. Dubard-Gault, MD, MS; Fuki M. Hisama, MD, FACMG, FAAN
(P497) Assessing Comfort Levels in Emergency Medicine Physicians When Managing Inborn Errors of Metabolism
Wednesday, 4:00 pm - 11:59 pm
Lori-Anne P. Schillaci, MD; Edwin C. Ferren, MD; Adam Johnson, MD; James Oneill, MD; Thomas Weber, MD; Michael Mitchell, MD; David M. Cline, MD
(P742) Assessing Stability of Frozen Samples for Bionano Optical Single DNA Mapping for Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1
Wednesday, 4:00 pm - 11:59 pm
Sara L. Cook, M.D., Ph.D.; Emily Lauer, MS, CGC; Patrick A. Lundquist, BS; Linda Hasadsri, MD, PhD, FACMG; Margherita Milone, M.D., Ph.D.; Zhiyv (Neal) Niu, PhD
(P072) Assessing the characteristics associated with carriers of the CHEK2 S428F variant
Wednesday, 4:00 pm - 11:59 pm
Calan Szmyd, MS, CGC; Madison LaFleur, MS, CGC; Katherine L. Howard, LGC, CGC, MSGC; Mia Mackall, MS, CGC; Jingwen Zhang, PhD; Youbao Sha, PhD, FACMG
(P405) Association Between Weiss-Kruszka Syndrome (WSKA) and Obesity
Wednesday, 4:00 pm - 11:59 pm
Taimy Falcon-Rodriguez, MD, MS; Ana Maria Rodriguez Barreto, MD
(P005) Atidarsagene Autotemcel (Hematopoietic Stem Cell–Gene Therapy) Preserves Cognitive and Motor Development in Metachromatic Leukodystrophy with up to 12 Years Follow-up
Wednesday, 4:00 pm - 11:59 pm
Francesca Fumagalli, MD, PhD; Valeria Calbi, MD; Fabiola De Mattia, MSc; Alberto Zambon, MD; Vera Gallo, MD; Salvatore Recupero, MD; Sean L. Moro, PhD; Elena Sophia Fratini, MD; Alessia Ippolito, PT; Francesca Ciotti, MSc; Maddalena Fraschini, MSc; Marina Sarzana, MSc; Stefano Scarparo, PT; Eugenio Montini, PhD; Sara Locatelli, MSc; Marcella Facchini, MSc; Alessandra Clerici, MSc; Francesco Morena, PhD; Sabata Martino, PhD; Muska Yarzi, MRes; Andrew Shenker, MD, PhD; Jean Brooks, MSc; Alan Richardson, PhD; Laura Campbell, MA(Cantab), MBBChir, MRCS, MFPM, DPM(Dist); Leslie Meltzer, PhD; Alessandro Aiuti, MD, PhD
(P281) Atypical Maternally Inherited CDKN1C Variant Causing IMAGe Syndrome in a Newborn
Wednesday, 4:00 pm - 11:59 pm
Daniel Groepper, LGC; Julie Fleischer, MD; Jacqueline Lyman, BS
(P354) Automated Reanalysis of Clinical Genetic Test Results: High Variant Reclassification Rate
Wednesday, 4:00 pm - 11:59 pm
Emily A. Huth, MS, CGC; Ludovica Montanucci, PhD; Tobias Bruenger, PhD; Costin Leu, PhD; Gary Taylor, BS; Emile Moura Coelho da Silva, MS, CGC; Oscar Mancera, MD; Omolara D. Kolawole, MD; Matthew T. Wright, MD; Samden D. Lhatoo, MD; Gretchen K. Von Allmen, MD; Dennis Lal, PhD
(P240) Back to Basics: Diagnosis of Lesch-Nyhan Syndrome in a Female via Karyotype Analysis
Wednesday, 4:00 pm - 11:59 pm
Joseph Biddle, MS, CGC; Teresa Campbell, MS, CGC; Alba Sanchis-Juan, PhD; Gabrielle Lemire, MD; Christina Austin-Tse, PhD, FACMG; Anne O'Donnell-Luria, MD, PhD; Melanie O'Leary, MS; Laurie Sadler, MD; Lance Rodan, MD
(P050) Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure
Wednesday, 4:00 pm - 11:59 pm
Vittoria Rossi, MD; Daniel Brooks, MD; Hongzheng Dai, Ph.D, FACMG; Elizabeth Mizerik, MS; Yishay Ben-Moshe, MD; Seema Lalani, MD; Daryl A. Scott, MD, PhD; Fernando Scaglia, MD; Keren Machol, MD, PhD; Mir Reza Bekheirnia, MD, FACMG
(P651) Bleeding Complications in Pregnant Carriers of Factor IX and Factor XI Ascertained Through Carrier Screening
Wednesday, 4:00 pm - 11:59 pm
Lisa Johnson, MS, CGC; Sarah Keilman, MS, CGC; Emily Becraft, MS, CGC; Elizabeth Repass, ScM, CGC; Peter Benn, DSc, PhD; Brittany Prigmore, MS; Yang Wang, PhD, FACMGG; Bridget Maloney, BS; Kayla Ruiz, BA; Melda Balcioglu, BS; Vivienne Souter, MD
(P443) Blepharophimosis-Intellectual Developmental Disorder Syndrome, First Reported Case in Hispanic population
Wednesday, 4:00 pm - 11:59 pm
David D. Rodriguez, Dav, IBARRA-RAMIREZ MARISOL PHD.; Luis Daniel D. Campos, PhD., PhD.; Marisol Ibarra-Ramirez, PhD, PhD; Laura E. Martinez-De Villarreal, PhD, PhD
(P552) Bringing Equitable Access to Cancer Genetic Services: Implementing & Adapting a Digital Hereditary Cancer Screening Tool at an FQHC
Wednesday, 4:00 pm - 11:59 pm
Vivian Pan, MS; Tara Schmidlen, MS CGC; Neha Awati, MD; Angelina Izguerra, BPH; Kathleen Jara, RN; Genesis Rios, MPH; Emilie Simmons, MS; Moran Snir, MS, MBA; Pamela Ganschow, MD
(P741) Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant
Wednesday, 4:00 pm - 11:59 pm
Tatiana C. Hellwig, MD; Jennifer Black, MS, CGC; Nienke Dosa, MD, MPH; Prateek Wali, MD; David W. Hansen, MD, MPH; Arayamparambil C. Anilkumar,, MD; Roger Lebel, MD
(P869) Building an Equitable Network to Study Genetic Risk of Severe Acute Malnutrition in Multiple African Populations
Wednesday, 4:00 pm - 11:59 pm
Emilyn Banfield, PhD, MPH, MS, CGC; Simrah Hamid, BS; Sarah Atkinson, MBBS, PhD; Paul Kelly, MBBS, MD, MA, FRCP; Andrew Prendergast, DPhil, MA, MRCPCH, DTM&H; Esther Babirekere, MBChB, PhD; Mogomotsi Matshaba, MBBCh; Estomih Mduma, PhD; Thaddaeus May, MD; Neil Hanchard, MD, PhD
(P761) Calculating Maternal Polygenic Risk Scores from Prenatal Screening by cell-free DNA Data
Wednesday, 4:00 pm - 11:59 pm
Sung Kim, PhD; Victoria Corey, PhD; Mauro Chavez, MS; Layla Qasim, PhD; Cosmin Deciu, MS; Angela Henry, CLS; Salome Bagayan, CLS; Sasha Treadup, CLS; Mike Mehan, PhD; Eileen de Feo, PhD
(P033) Cardiac Manifestations of Fabry Disease: Insights from a Clinic Population through Cardiac Magnetic Resonance Imaging
Wednesday, 4:00 pm - 11:59 pm
Darby S. Manternach, BA; Lindsey D. Reinhardt, CCRC; Lauren VanOpdorp, MPH; Myrl Holida, PA-C; Ravi Ashwath, MD; Mahi Ashwath, MD, FACC, FASE; John A. Bernat, MD, PhD, FACMG
(P326) CARDIOVASCULAR FEATURES IN ADULT INDIVIDUALS AFFECTED WITH TATTON-BROWN-RAHMAN SYNDROME
Wednesday, 4:00 pm - 11:59 pm
Tania Cruz Marino, Dr., PhD, MD; Josianne Leblanc, MSc; Annabelle Pratte, MSc; Jessica Tardif, MSc; Marie-Jacqueline Thomas, MSc; Frederique Leclerc, MSc; Jonathan Beaudoin, Dr, MD; Melinda Barabas, MD
(P580) Care4Rare Canada: Application of a Multi-omics Protocol to Diagnose Rare Genetic Disease Patients at the End of Standard-of-Care
Wednesday, 4:00 pm - 11:59 pm
Elisabeth Soubry, BHsc; Taila Hartley, PhD, MSc, MSc, CCGC; Meryl Ackers, MSc; Brenda McInnes, MSc, CCGC; Emilie T. Théberge, BSc, MSc; Andrea Goodman, BSc; Christian R. Marshall, PhD, FACMG, FCCMG; Kristin D. Kernohan, PhD, FCCMG; Kym M. Boycott, MD, PhD, FRCPC, FCCMG
(P681) Carrier Screening with the ACMG 113: An Early Look and New Insights
Wednesday, 4:00 pm - 11:59 pm
Emily Becraft, MS CGC; Erin Armentti, MS, CGC; Madeleine Armer-Cabral, MS; Jennifer Saucier, MS; Elizabeth Repass, ScM, CGC; Linyan Meng, PhD; Peter Benn, DSc, PhD; Vivienne Souter, MD; Yang Wang, PhD, FACMGG
(P694) Case Report: Unraveling a Complex Chromosomal Rearrangement Case Using Optical Genome Mapping
Wednesday, 4:00 pm - 11:59 pm
Zuhal Ozcan, PhD; Brandon M. Shaw, PhD, FACMG; Olena Kis, PhD, FACMG; Xiaolan Fang, PhD, FACMG; Jacquelyn R. Roberson, MD, FACMG; Travis E. Washburn, MS, CGC; Mary E. Nyhuis, MS, CGC
(P803) Cautionary Tale on Preconception Counseling and Genetic Testing in a Case of Non-Ketotic Hyperglycinemia (NKH) in Dichorionic Diamniotic Twins
Wednesday, 4:00 pm - 11:59 pm
Laura Krueger, PhD; Brian Muchmore, MD; Christopher Connolly, MD; Zineb Ammous, MD; Mallory Wagner, MS, LCGC; Catherine Keegan, MD, PhD; Elizabeth Ames, MD PhD
(P165) Challenges and Errors in Selecting the Most Appropriate Clinical Genetic Testing
Wednesday, 4:00 pm - 11:59 pm
Nora Urraca, MD, PhD; Eniko K. Pivnick, MD; Roya Mostafavi, CGC
(P246) Challenges in Establishing Best Practices for Gene Therapy Informed Consent for Hemophilia A/B
Wednesday, 4:00 pm - 11:59 pm
Kristy Lee, MS, CGC; Callie Berkowitz, MD; Kristi J. Jackson, BS; Brenda I. Nielsen, MSN, RN-BC; Patrick S. Ellsworth, MD; Alice D. Ma, MD, FACP; Nigel S. Key, MBChB, FRCP
(P751) Challenges in Interpretation of RNA-Seq Data Limit Variant Reclassification
Wednesday, 4:00 pm - 11:59 pm
S. Hussain Askree, MBBS, PhD, FACMG; Michael A. Reott, Jr., PhD, MB(ASCP); Kirk Stovall, MS, MB(ASCP); Dimiter P. Kolev, BS, MB(ASCP); William A. Langley, PhD, MT(ASCP)
(P025) Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia
Wednesday, 4:00 pm - 11:59 pm
Mari Mori, MD, MS, FACMG; April Lehman, MD; Mackenzie Marr, MS; Rebecca Youngs, MS, RD, LD; Kandamurugu Manickam, MD
(P074) Characterization of complex hereditary cancer associated germline variants with long read sequencing
Wednesday, 4:00 pm - 11:59 pm
Sami Belhadj, PhD; Felicia Hernandez, PhD; Terra Brannan, PhD; Colin C. Young, PhD; Jesus Ramirez Castano, BS; Cassidy Carraway, BS; Jessica Gryzbowski, MS-CGC; Carolyn Horton, MS, CGC; Marcy E. Richardson, BS, PhD; Rachid Karam, MD, PhD
(P169) Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene
Wednesday, 4:00 pm - 11:59 pm
Olivia M. Moran, MSc, MSc; Cherith B. Somerville, MHSc; Miriam S. Reuter, MD; Kelsey Kalbfleisch, MSc/CGC, CCGC; Marci LB. Schwartz, MS, CGC; Xin Chen, PhD; Roozbeh Manshaei, PhD; Raymond H. Kim, MD; Seema Mital, MD, FACC, FAHA, FRCP(C); Rebekah K. Jobling, MD
(P153) Characterizing the Spectrum of CACNA1A-Related Disorders
Wednesday, 4:00 pm - 11:59 pm
Emile Moura Coelho da Silva, MS; Alina Ivaniuk, MD; Emily A. Huth, MS, CGC; Costin Leu, PhD; Oscar Mancera, MD; Omolara D. Kolawole, MD; Matthew T. Wright, MD; Ian J. Butler, MD; Pauline Filipek, MD; Jeremy E. Lankford, MD; Michael W. Watkins, MD; Elia Pestana Knight, MD; Samden D. Lhatoo, MD; Gretchen K. Von Allmen, MD; Dennis Lal, PhD
(P396) Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain
Wednesday, 4:00 pm - 11:59 pm
Kenyon Agrons, BS; Gracie Hufft, BS; Kathleen McDowell-Takahashi, BS; Sarah H. Elsea, PhD, FACMG; Christopher Ward, Ph.D.
(P250) Clarification of Variant Reporting for Homologous Genes Resolved Through Systematic Literature Review - ACMG SF Genes CALM1, CALM2, and CALM3
Wednesday, 4:00 pm - 11:59 pm
Kathryn M. Curry, MS, CGC; Natalie Syverud, MS; Anna K. McGill, MS, CGC; Jeffrey Bissonnette, MS, CGC; Jane E. Beckwell, 1; Elizabeth A. Wiley, MS, CGC; Mark J. Kiel, MD, PhD
(P008) ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: addressing the need for genetic variant classification in G6PD deficiency
Wednesday, 4:00 pm - 11:59 pm
Shruthi Mohan, PhD; Renee Geck, PhD; Shawn Fayer, MS; Roseann S. Donnelly, PharmD, BCPS; Mary V. Relling, Pharm.D.; Tom Vulliamy, FRCPath; Kelly E. Caudle, Pharm.D., Ph.D., BCPS, FCCP; Amber Waddell, MPH; Essence Kendall, BS; Gonzalo Domingo, PhD; Angelo Minucci, PhD; Benedikt Ley, PhD; Cindy Chu, MD, PhD; Cyrine Haidar, PharmD; Howard McLeod, PharmD; Josef T. Prchal, MD; Mahmoud Sirdah, PhD; Vimla Aggarwal, MBBS, FACMG; Weiying Jiang, MD; Emily Kyle, BS; Meredith A. Weaver, PhD; Michelle Whirl-Carrillo, PhD; Andrew B. Stergachis, MD, PhD, FACMG
(P150) ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes
Wednesday, 4:00 pm - 11:59 pm
Amber Waddell, MPH; Sophie Hespe, BMedSci, MPhil; Babken Asatryan, MD, PhD; Emma Owens, BS; Courtney Thaxton, PhD; Mhy-Lanie Adduru, MD; Kailyn Anderson, MS, CGC; Emily Brown, MGC, CGC; Lily Hoffman-Andrews, MS, LCGC; Elizabeth Jordan, MMSc, LGC; Megan Mayers, M.A., M.S.; Stacey Peters, MD; Fergus Stafford, MD; Richard Bagnall, BSc (Hons), PhD; Lucas Bronicki, PhD, FACMG, DABMGG; Bert Callewaert, MD, PhD; C. Anwar A. Chahal, MBChB MRCP PhD; Cynthia James, ScM, CGC, PhD; Olga Jarinova, PhD, FCCMG; Andrew P. Landstrom, MD, PhD; Elizabeth M. McNally, MD, PhD; Brittney Murray, MS, CGC; Laura Muiño-Mosquera, MD, PhD; Victoria Parikh, MD; Chloe Reuter, MS, CGC; Roddy Walsh, PhD; Bess Wayburn, PhD, CGC; James S. Ware, MD, PhD; Jodie Ingles, MPH, PhD
(P633) Clinical and Genetic Findings of >3,900 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program
Wednesday, 4:00 pm - 11:59 pm
Heather McLaughlin, PhD, FACMG; Emily Campbell, MD; Nami Park, PharmD; Ana Morales, MS, CGC; Brian Hartline, MD; Anurag Relan, MD; Kelli Williams, MD; Joseph Harper, PharmD
(P069) Clinical and Genomic Spectrum of Lynch Syndrome in Thailand: A 7-year Experience of Cancer Genetic Testing at Siriraj Genomics
Wednesday, 4:00 pm - 11:59 pm
Chalermkiat Kansuttiviwat, MD; Pongtawat Lertwilaiwittaya, MD; Ekkapong Roothumnong, MS; Panee Nakthong, MS; Peerawat Dungort, MS; Chutima Meesamarnpong, BS; Warisara Tansa-Nga, MS; Khontawan Pongsuktavorn, BS; Supakit Wiboonthanasarn, BS; Warunya Tititumjariya, BS; Nannipa Phuphuripan, MS; Chittapat Lertbussarakam, MS; Jantanee Wattanarangsan, MS; Jiraporn Sritun, PhD; Kittiporn Punuch, MS; Jirayu Kammarabutr, MS; Wanna Thongnoppakhun, PhD; Chanin Limwongse, MD, ABIM, ABMGG; Manop Pithukpakorn, MD, ABIM, ABMGG
(P084) Clinical Integration of Potential Germline Findings from a Tumour Testing Precision Medicine Program
Wednesday, 4:00 pm - 11:59 pm
Maria Carolina Sanabria-Salas, MD, MSc, PhD; Nina C. Anggala, BSc, MHSc candidate; Brittany Gillies, MSc, CGC; Helia Purnaghshband, MD; Kirsten M. Farncombe, PhD; Larissa Peck, MSc, CGC; Laura Redondo, MSc, CCGC; Peter JB. Sabatini, PhD; Renee Hofstedter, MSc, CCGC; Philippe L. Bedard, MD, FRCPC; Raymond H. Kim, MD, PhD, FRCPC, FCCMG, FACMG
(P003) Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia
Wednesday, 4:00 pm - 11:59 pm
Iris Pantovich, B.A; Amy L. White, MS CGC; April Studinski, MS; Weiyi Mu, MS, CGC; Bonnie Kaas, MD; Matthew Bower, MS; Gisele Pino, MSGC; Dawn S. Peck, CGC, LGC, MSGC; Kyle Salsbery, MS, CGC; Emily Lauer, MS, CGC; Angela M. Pickart, MS, CGC; Kandelaria M. Rumilla, MD; Wei Shen, PhD, FACMG; Zhiyv Niu, PhD; Patricia L. Hall, PhD; Matthew J. Schultz, PhD; Dimitar K. Gavrilov, MD, PhD; Silvia Tortorelli, MD,PhD; Dietrich Matern, MD, PhD, FACMG; Ralitza Gavrilova, MD; Devin Oglesbee, PhD, FACMG
(P708) Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y
Wednesday, 4:00 pm - 11:59 pm
Hannah C. Cox, PhD, HCLD(ABB); Connie Schultz, MS CGC; Jerry Machado, PhD
(P284) Clinical Overlap in Two Patients With 46,XY DSD and Limb Abnormalities with Identical Variant in Candidate Gene LHX9
Wednesday, 4:00 pm - 11:59 pm
Kathleen R. Shields, MS, CGC; Christina Kresge, MS, CGC; Beth A. Pletcher, MD, FACMG; Samantha Montgomery, MS, CGC; David Rodriguez-Buritica, MD
(P498) Clinical Treatment Patterns and Outcomes of Sickle Cell from the Arkansas Newborn Screening Long Term Follow-up Database Study: 2011-2023
Wednesday, 4:00 pm - 11:59 pm
Laura H. Hays, PhD, APRN, CPNP-PC, FAHA; Dominique DuBois, PhD(c), APRN, CNM; Suzanne Saccente, MD; Gerald B. Schaefer, MD, FAAP, FFACMG
(P601) Clinical Utility of MS-MLPA for the Diagnosis of Prader-Willi/ Angelman Syndrome: the GGC Experience
Wednesday, 4:00 pm - 11:59 pm
Xuemei Shi, PhD; Robin Fletcher, MS, CGC; Jiyong Wang, PhD; Machenzie Lally, MS; Sydney Posey, BS; Michael J. Friez, PhD; Jennifer A. Lee, PhD, FACMG; Raymond C. Caylor, PhD, FACMG; Fatima E. Abidi, PhD, FACMG
(P583) Clinical Utility of Optical Genome Mapping as an Additional Test to Standard Cytogenetic Workup of Hematological Malignancies
Wednesday, 4:00 pm - 11:59 pm
Gokce A. Toruner, MD, PhD, FACMG; Zhenya Tang, MD, PhD, FACMG; Shimin Hu, MD, PhD; Rashmi Kanagal Shamanna, MD; L. Jeffrey Medeiros, MD; Guilin Tang, MD, PhD; Sanam Loghavi, MD
(P768) Clinical Utility of Prenatal Exome Sequencing: Insights From a 10-year Cohort
Wednesday, 4:00 pm - 11:59 pm
Meghan C. Towne, MS, CGC, LGC; Brooklynn Gasser, MS; Adelina Batcheva, BS; Melissa Holman, MS, CGC; Christina Alamillo, MS, CGC, LGC
(P626) Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Wednesday, 4:00 pm - 11:59 pm
Lotta Koskinen, PhD; Margarita Andreevskaya, PhD; Mikko Muona, PhD; Tuuli Pietila, PhD; Janica Djupsjöbacka, MSc; Ville Kytölä, MSc; Kati Kämpjärvi, PhD; Samuel Myllykangas, PhD; Pertteli Salmenperä, PhD; Juha W. Koskenvuo, MD, PhD; Miko Valori, PhD
(P757) Clinical Utility of the 2021 ACMG Gene Tiers in Expanded Carrier Screening
Wednesday, 4:00 pm - 11:59 pm
Dana Neitzel, MS, CGC; Sarah N. Poll, PhD; Sienna Aguilar, MS; Nicole Faulkner, PhD, FACMG; Swaroop Aradhya, PhD FACMG
(P555) Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study
Wednesday, 4:00 pm - 11:59 pm
Chloe Mighton, MSc; Rita Kodida, MSc, CCGC; Salma Shickh, MS, PhD, CGC; Marc Clausen, MA; Emma Reble, MSc; Jordan Sam, MHSc; Sonya Grewal, HBSc; Seema Panchal, MSc, CGC; Melyssa Aronson, CGC; Susan Armel, CGC; Tracy Graham, CGC; Nicole Forster, MSc, CGC; Jose-Mario Capo-Chichi, PhD, FACMG; Elena Greenfeld, PhD, CCMG, FACMG; Abdul Noor, PhD; Iris Cohn, Msc (Pharm); Chantal F. Morel, BSc, MD, FRCPC; Christine Elser, MD; Andrea Eisen, MD; June C. Carroll, MD; Emily Glogowski, MSc, LCGC; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Kelvin KW. Chan, MD, FRCPC, MSc, PhD; Kevin E. Thorpe, MMath; Jordan Lerner-Ellis, PhD; Raymond H. Kim, MD; Yvonne Bombard, PhD
(P750) Clinical Validation of Transcriptome Analysis for the diagnosis of Mendelian Disorders
Wednesday, 4:00 pm - 11:59 pm
Kristina Macakova, BS; Jefferson C. Sinson, MS; Sen Zhao, MD; Hongzheng Dai, PhD; Jill Rosenfeld, MS; Gladys E. Zapata, MS; Shenglan Li, MD; Patricia Ward, MS; Christiana Wang, BS; Chunjing Qu, PhD; Becky Maywald, MS; Undiagnosed Disease Network, .; Brendan Lee, MD, PhD; Christine Eng, MD; Pengfei Liu, PhD
(P672) Commercial Cystic Fibrosis Carrier Screening Tests and Coverage of the ACMG 100 Recommended Variants
Wednesday, 4:00 pm - 11:59 pm
Timothy Tidwell, PhD; Anthony R. Gregg, PhD; Wayne W. Grody, PhD; Michael Guo, PhD; Hutton M. Kearney, PhD; Kristin G. Monaghan, PhD; Jennifer L. Taylor, PhD; Cinthya J. Zepeda Mendoza, PhD; Catherine Ziats, PhD; Karen S. Raraigh, PhD; Joshua L. Deignan, PhD
(P414) Comorbidity of Two Uncommon Chromosomal Disorders: First Reported Case of 49,XXXXY and Cornelia de Lange Syndrome
Wednesday, 4:00 pm - 11:59 pm
Carole A. Samango-Sprouse, EdD; Margaret R. Olaya, BA; Teresa Sadeghin, MS Ed; Andrea L. Gropman, MD, FACMG; Kara Schmidt, BA
(P733) Comparative Analysis of DNA Variant Classifications Between the GENCOV COVID-19 Genome Study and the ClinVar Database
Wednesday, 4:00 pm - 11:59 pm
Radhika Mahajan, MHSc; Erika Frangione, MSc; Navneet Aujla, HBSc; Selina Casalino, MSc, CCGC; Lochana Jayachandran, BSc; Greg Morgan, BSc; Juliet Young, BSc; Brendan Dickson, MD; Saranya Arnoldo, PhD; Erin Bearss, MD, CCFP(EM); Alexandra Binnie, MD; Bjug Borgundvaag, PhD, MD, CCFP(EM); Marc Clausen, MA; Marc Dagher, MD; Luke Devine, MD; Steven M. Friedman, MD; Anne-Claude Gingras, PhD; Zeeshan Khan, RN; Tony Mazzulli, MD; Shelley McLeod, MSc, PhD(C); Chloe Mighton, MSc; Trevor J. Pugh, PhD; Jared Simpson, PhD; Seth Stern, MD; Lisa Strug, PhD; Ahmed Taher, MD; Elena Greenfeld, PhD, FCCMG, FACMG; Yvonne Bombard, PhD; Abdul Noor, PhD; Hanna Faghfoury, MD, FRCPC, FCCMG; Jennifer Taher, PhD; Jordan Lerner-Ellis, PhD
(P829) Comparative medical genetics to facilitate the interpretation of rare missense variation
Wednesday, 4:00 pm - 11:59 pm
Bushra Haque, MSc, BSc; George Guirguis, MSc; Meredith Curtis, BSc, MSc; Hera Mohsin, BSc, MSc Candidate; Susan Walker, PhD; Michelle Morrow, MS, PhD; Gregory Costain, MD, PhD, FRCPC
(P447) Comparing Parental Perspectives of Raising Children Affected with Inherited vs. De Novo Marfan Syndrome
Wednesday, 4:00 pm - 11:59 pm
Breanna A. Lima Martinez, HBSc; Staci Kallish, DO; Laura Hennessy, MS, CGC; Stephanie B. Asher, CGC; Tiffiney R. Hartman, PhD; Lisa J. Kessler, MS; Lauren Testa, BS
(P581) Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease
Wednesday, 4:00 pm - 11:59 pm
Xiangwen Chen-Deutsch, PhD, FACMG; Rizwan Yousaf, PhD; Yinghong Pan, PhD; Christin D. Collins, PhD, FACMG; Madhuri Hegde, PhD, FACMG
(P350) Comparison of hEDS and HSD in a Pediatric Population
Wednesday, 4:00 pm - 11:59 pm
Tristin Shackelford, MS; Derek Neilson, MD; Noelle Danylchuk, MS, CGC; Jing Jin, MPH, PHD; Margo Herman, DPT; Peggy Kulch, MS, CGC
(P080) Comprehensive Overview and Analysis of a Longstanding Pediatric Cancer Genetics Program
Wednesday, 4:00 pm - 11:59 pm
Bailey Gallinger, MSc, CGC; Yoshiko Nakano, MD; Kimberly Caswell, BSc; Harriet Drucker, MSc, CGC; Alexandria Mansfield, Honours B.HSc. in Biochemistry; Jonathan D. Wasserman, MD, PhD; Rosanna Weksberg, MD PhD; Rosemarie E. Venier, MSc. CGC; Yiming Wang, MD, PhD, FRCPC; David Malkin, MD, FRCPC, FRSC; Anita Villani, MD, MSc
(P721) Computational Tool Performance Across BRCA1: A Case-Control Informed Analysis
Wednesday, 4:00 pm - 11:59 pm
Scott Pew, MPH; Madison B. Wiffler, BS; Julie L. Boyle, MS; Sean V. Tavtigian, PhD; David Goldgar, PhD
(P101) Confirmation of MYCN Amplification as the Cause for Retinoblastoma Eliminates Risks for RB Related Cancers in Proband and Family Members
Wednesday, 4:00 pm - 11:59 pm
Jaime L. Jessen, MSc, CGC, CCGC; Hilary Racher, Dr., PhD, FCCMG, DABMGG; Yiming Wang, MD, PhD, FRCPC; Rosemarie E. Venier, MSc. CGC; Katherine E. Paton, Dr., MD FRCSC,DABO; Aparna Ramasubramanian, Dr., MD
(P778) Congenital Brain Malformations in TPK1-related Disorder – A Novel Severe Phenotype
Wednesday, 4:00 pm - 11:59 pm
Kate Cilli, CGC; Jennifer Harmon, MD, PhD; Olivier Fortin, MD; Jamie L. Fraser, MD, PhD, FACMG; Jason W. Schroeder, MD
(P327) Congenital Disorder of Glycosylation Type IIa with a Novel Phenotype of Bilateral Congenital Glaucoma
Wednesday, 4:00 pm - 11:59 pm
Alena Egense, MGC, CGC; Timothy Do, BS; Kristin Herman, MD; James Brandt, MD; Suma P. Shankar, MD, PhD
(P421) Connecting Features in a Patient with Supernumerary Ring Chromosome 1
Wednesday, 4:00 pm - 11:59 pm
Margaret G. Au, MBE, MS, CGC; Jason Tate, MS; Cassandra M. Starks, DNP, APRN; Sainan Wei, MD, PhD
(P015) Connecting the Dots (and Neurons): Unraveling the Genetic Basis of Neurotransmitters Disorders in a Large Cohort of Brazilian Patients
Wednesday, 4:00 pm - 11:59 pm
Charles Lourenco, MD, PhD; AMADEU QUEIROZ, MD; LILIAN SANSAO, MD; REGINA ALBUQUERQUE, MD; JACQUELINE FONSECA, MD; ERICA COELHO, MD; MARIA DA PENHA ANANIAS MORITA, MD, PhD; EDUARDO ESTEPHAN, MD,PhD
(P187) Consent frequency for genetic participation and receiving genetic results in White and non-White participants in SPARK
Wednesday, 4:00 pm - 11:59 pm
Alexandra Goler, BS; Jessica R. Wright, PhD; Sarah D. Barns, MPH; Jacob B. Hall, PhD; Bing Han, MS; Irina Astrovskaya, PhD; Natalia Volfovsky, PhD; Aaron Wong, PhD; Pamela Feliciano, PhD; Wendy K. Chung, MD, PhD; The SPARK Consortium, NA
(P114) Considering Cancer Risk in a Patient with CDH1-associated Blepharocheilodontic Syndrome (BCD1)
Wednesday, 4:00 pm - 11:59 pm
Cassie Mintz, MD; Tehilla Brander, MS, CGC; Marisa Vomvos, MS, CGC; Erika Levine, MS, CGC
(P292) Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients
Wednesday, 4:00 pm - 11:59 pm
Sepideh Mehvari, PhD candidate; Nahid Karimian Fathi, PhD candidate; Maryam Asadnezhad, MSc; Sanaz Arzhangi, MSc; Saeed Sadeghian, MD; Mohammadali Boroumand, MD; Fatemeh Shokohizadeh, MD; Elham Rostami, MD; Rahnama Boroumand, MD; Reza Malekzadeh, MD; Yasser Riazalhosseini, PhD; Mohammadreza Akbari, MD; Mark Lathrop, PhD; Hossein Najmabadi, PhD; Kaveh Hosseini, MD; Kimia Kahrizi, MD
(P265) Correlating Clinical Findings with Genetic Testing Results in Patients with Concern for Connective Tissue Disorders - A Retrospective Chart Review
Wednesday, 4:00 pm - 11:59 pm
Rebecca Oberschmidt, MS; Mylynda B. Massart, MD, PhD; Natasha Berman, MS, MPH; Christine D. Munro, MS, MPH; John Shaffer, PhD
(P538) Curious But Cautious: Patients’ Preferences for All Types of Clinically Actionable Genomic Incidental Results
Wednesday, 4:00 pm - 11:59 pm
Salma A. Shickh, MSc; Rita Kodida, MSc, CCGC; Chloe Mighton, MSc; Marc Clausen, MA; Emma Reble, MSc; Jordan Sam, MHSc; Sonya Grewal, HBSc; Seema Panchal, MSc, CGC; Melyssa Aronson, CGC; Susan Armel, CGC; Tracy Graham, CGC; Christine Elser, MD; Andrea Eisen, MD; June C. Carroll, MD; Emily Glogowski, MSc, LCGC; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Kevin E. Thorpe, MMath; Jordan Lerner-Ellis, PhD; Raymond H. Kim, MD; Yvonne Bombard, PhD
(P592) CYTOGENETIC AND MICROARRAY ANALSYSIS OF PRENATALLY DETECTED CONGENITAL HEART DEFECTS (CHD): DIAGNOSTIC FINDINGS AND VARIATION AMONG CHD SUBTYPES
Wednesday, 4:00 pm - 11:59 pm
Stuart Schwartz, PhD, FACMG; Alexandra Arreola, PhD, FACMG; Inder Gadi, PhD, FACMG; Gloria Haskell, PhD, FACMG; Bing Huang, PhD, MD; Judith F. Knops, PhD, FACMG; Andrea L. Penton, PhD, FACMG; Karen Phillips, PhD, FACMG
(P676) Deciphering the Collagen Code: Navigating Variant Curation Complexities in Skeletal Disorders
Wednesday, 4:00 pm - 11:59 pm
Pamela A. Robertson, PhD; Alicia B. Byrne, PhD; Julie A. Ratliff, BS; Audrey O'Neill, PhD; Marina DiStefano, PhD, FACMG; Deepika D. Burkardt, DO; Carlos R. Ferreira, MD, FACMG; Kerry K. Brown, PhD, FACMG
(P302) Decoding Genetic Orchestration: Understanding the Cellular and Molecular Mechanisms of the Hematopoietic Failure in Fanconi Anemia
Wednesday, 4:00 pm - 11:59 pm
Apichat Dr. Photi-A, MD; Mariana Benicio, Ph.D.; Hongbing Li, Ph.D.; Houtan Moshiri, M.Sc.; Richard Armstrong, M.Sc.; Efe Sahinoglu, .; Vickey Breakey, MD; Sharon Abhish, MD; Staphanie Villaneuve, MD; Roona Sinha, MD; Catharine Corriveau-Bourque, MD; MacGregor Steele, MD; Yigal Dror, Dr., MD
(P765) Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype
Wednesday, 4:00 pm - 11:59 pm
Josie S. Pervola, MS, LGC; Jessica L. Giordano, MS, CGC; Vaidehi Jobanputra, PhD, FACMG; Derrick Peña, MS; Erica Spiegel, MS; Alexandra Tinfow, MS; Stephanie Galloway, MS, CGC; Joanna Urli, MS, CGC; Nina Harkavy, MS, CGC; Carina Bertolini, MS, CGC; Ronald J. Wapner, MD
(P440) Decoding the GANAB Enigma: Novel Insights into Pediatric Cystic Kidney Disease
Wednesday, 4:00 pm - 11:59 pm
ADEL MOIDEEN, MD; Mathieu Lemaire, MD, PhD, FRCP(C), FAAP, FASN
(P032) Decoding the Genetic Tapestry of Long Chain Fatty Acid Oxidation Disorders: Unveiling Novel Insights with a Dynamic Locus-Specific Gene Database
Wednesday, 4:00 pm - 11:59 pm
Vanessa Rangel Miller, MS, MBA, CGC; Heather Richbourg, PhD; Jerry Vockley, MD, PhD, FACMG; Omid K. Japalaghi, MS; Moeenaldeen AlSayed, MD, FACMG, MBA; Mark J. Kiel, MD PhD; Stephanie Monteleone, BS; Peter Baker II, MD, FACMG; Sean Daugherty, MS; Aneal Khan, MSc, MD, FRCPC, FCCMG; Lawrence Korngut, MD, MSc, FRCPC; Deborah Marsden, MBBS, FACMG; Ana Morales, MS, CGC; Nicole Miller, PhD
(P192) Deep Neurologic Phenotyping and Biomarker Development in Bohring-Opitz Syndrome using EEGs, Neurodevelopmental Assessments, and DNA Methylation Signature
Wednesday, 4:00 pm - 11:59 pm
Bianca E. Russell, MD; Julia C. Sloan, BS; Hiroki Nariai, MD, PhD; Natasha Ludwig, Ph.D.; Abigail Dickinson, PhD; Zain Awamleh, PhD; Rosanna Weksberg, MD PhD; Isabella Lin, BA; Valerie Arboleda, MD, PhD; Wen-Hann Tan, BMBS
(P897) DEIJ Advancement in The Genomics Laboratory Through GC-Driven Advocacy: A Process Improvement Review of Sex/Gender Verification SOPs
Wednesday, 4:00 pm - 11:59 pm
Anna Essendrup, MS, CGC; Sarah E. Brunker, MS, MPH, CGC; Marissa S. Ellingson, MS, CGC; Jessica M. Bortnova, MS, CGC; Kyle T. Salsbery, MS, CGC; Linda Hasadsri, MD, PhD, FACMG; Zhiyv (Neal) Niu, PhD
(P501) Delivery of Monogenic and Polygenic Results to Participants in the Genomic Medicine at Veterans Affairs (GenoVA) Study
Wednesday, 4:00 pm - 11:59 pm
Morgan E. Danowski, MS, CGC; Ashley A. Antwi, MPH, CHES; Charles A. Brunette, PhD; Elizabeth Harris, BS; Preetika Kulkarni, BS; Katharine MacIsaac, MPH; Thomas Yi, MS; Matthew S. Lebo, PhD, FACMG; Jason L. Vassy, MD, MPH
(P543) Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada
Wednesday, 4:00 pm - 11:59 pm
Michael P. Mackley, MD, DPhil; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Shaimaa Helal, MD; Lauren Chad, MD; Gregory Costain, MD, PhD, FRCPC; Ronald D. Cohn, MD; Hanna Faghfoury, MD, FRCPC, FCCMG; Aspasia Karalis, MS, MD; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC; Robin Z. Hayeems, ScM, PhD
(P037) Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH versus allogeneic hematopoietic stem cell transplantation
Wednesday, 4:00 pm - 11:59 pm
Laura Campbell, MA(Cantab), MBBChir, MRCS, MFPM, DPM(Dist); Paul R. Harmatz, MD; Robert F. Wynn, MBBChir, MD, MRCP, FRCPath; Ashish O. Gupta, MBBS, MPH; Paul J. Orchard, MD; Troy C. Lund, MD, PhD; Simon A. Jones, MBChB, MRCPCH; Rebecca C. Ahrens-Nicklas, MD, PhD; Timothy S. Olson, MD, PhD; Caroline A. Lindemans, MD, PhD; Sandhya Kharbanda, MD; Peter M. van Hasselt, MD, PhD; Maria Ester Bernardo, MD, PhD; Francesca Tucci, MD; Su Syonmez, MSc; Leonie Martin, BSc; Jean Brooks, MSc; Nathalie Boeglin, PharmD
(P830) Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing.
Wednesday, 4:00 pm - 11:59 pm
Tanaya Jadhav, MS; Avery Zucco, PhD; Matt Aruta, MS; Matthew Dulik, PhD, DABMG; Laura K. Conlin, PhD; Ramakrishnan Rajagopalan, PhD; Jing Wang, MD
(P571) Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications
Wednesday, 4:00 pm - 11:59 pm
Sharon Molinari, MS, CGC; Gloria Haskell, PhD, FACMG; Andrea L. Penton, PhD, FACMG; Karen Phillips, PhD, FACMG; Inder Gadi, PhD, FACMG; Alexandra Arreola, PhD, FACMG; Stuart Schwartz, PhD, FACMG; Niecy Williams, BS
(P125) Detection of pancreatic cancer in liquid biopsies using integrative fragmentomics
Wednesday, 4:00 pm - 11:59 pm
Noa Liscovitch-Brauer, PhD; Dolev Rahat, MSc; Lilach Schneor, MSc; Noam Shomron, PhD
(P593) Detection of Single-Gene Copy-Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis
Wednesday, 4:00 pm - 11:59 pm
Matthew Hoi Kin Chau, PhD; Stephanie A. Anderson, CG(ASCP)CM; Rodger Song, BS/MB(ASCP)CM; Lance Cooper, BS; Patricia A. Ward, M.S., C.G.C; Pawel Stankiewicz, MD, PhD; Sau W. Cheung, PhD, MBA; Liesbeth Vossaert, PhD, FACMG; Yue Wang, PhD; Nichole Owen, PhD, FACMG; Janice L. Smith, PhD; Carlos A. Bacino, MD, FACMG; Katharina Schulze, PhD; Bo Yuan, PhD, FACMG; Weimin Bi, PhD
(P544) Developing a Health Human Resource Funding and Clinical Oversight Model for Genetic Services: The Ontario Approach
Wednesday, 4:00 pm - 11:59 pm
Frank Telfer, MSc; Rachel M. Healey, BSc; Kathleen Bell, MSc; Kaitlyn Lamay, MHSc; Wilson Yu, MSc, PhD; Huma Tariq, BMath, MMSc; Julia Monakova, PhD; Judith Wong, BA, MA
(P171) Developing an Approach to Screening Rare Genetic Diagnoses for Amenability to Bespoke Genetic Therapy Development
Wednesday, 4:00 pm - 11:59 pm
David Cheerie, BSc, MSc Candidate; Marlen C. Lauffer, MD; Danique Beijer, PhD; Matthis Synofzik, MD; Annemieke Aartsma-Rus, PhD; Michael Szego, PhD; Kimberly Amburgey, MSGC; Brian Kalish, MD; James Dowling, MD, PhD; Gregory Costain, MD, PhD, FRCPC
(P531) Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing Value of Genetic Testing from Patients’ Perspectives in Multiple Clinical Contexts
Wednesday, 4:00 pm - 11:59 pm
Elise Poole, MHSc; Stephanie Luca, MA; Daniel Assamad, MHSc; Bowen Xiao, PhD; Joyce Yan, HBSc; Pooja Banglorewala, BSc; Cheryl Xia, MSc; Wendy J. Ungar, MSc, PhD; Lesleigh S. Abbott, MD, FRCPC; Linlea Armstrong, MD, FRCPC; Patricia Birch, BSc, MSc; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; June C. Carroll, MD; Lauren Chad, MD; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS; Avram Denburg, MD, MSc, PhD, FRCPC; Rebecca J. Deyell, BSc, MD, MHSc; Alison M. Elliott, PhD, MS, CGC; Catherine Goudie, MD, FRCPC; Anne-Marie Laberge, MD, PhD, FRCPC Medical Genetics; Melissa Maio, MSc; Iskra Peltekova, MD; Becky Quinlan, HBA, BEd, MEd; Sarah L. Sawyer, MD/PhD; Rachel Silver, MSc, CGC; Maureen Smith, MEd; Ronni Teitelbaum, MSc, CGC, CCGC; Anita Villani, MD, MSc; Tasha Wainstein, MSc, CCGC; Robin Z. Hayeems, ScM, PhD
(P642) Development and Deployment of Clinical Genome Sequencing using a Cloud-Based Platform
Wednesday, 4:00 pm - 11:59 pm
Lynette YS. Lau, MSc; Ted Higginbotham, MSc; Wilson Sung, MSc; Venuja Sriretnakumar, PhD; Meredith Curtis, BSc, MSc; Caitlin Chisholm, MSc; Meredith K. Gillespie, MSc; Anna Pan, MSc; Sean Kim, MSc; Sean Simko, BSc; Magda Price, PhD; Marianne Eliou, BSc; Anna Szuto, MSc; Michelle Axford, PhD, FCCMG; Martin J. Somerville, MSc, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Jean McGowan-Jordan, PhD; Melaine Beaulieu Bergeron, PhD; James Stavropoulos, BSc, MSc, PhD, FCCMG; Lijia Huang, PhD; FCCMG; Christian Marshall, PhD, FACMG, FCCMG
(P843) Development of a Logic Model to Inform a Measurement Strategy for a Provincial Genetics Program: Approach and Lessons Learned
Wednesday, 4:00 pm - 11:59 pm
Husayn Marani, MSc, PhD; Tharsiya Martin, MSc; Wilson Yu, MSc, PhD; Kathleen Bell, MSc, CGC; Rachel Healey, BSc; Pratyusha Attaluri, MD, MHSc; Julia X. Su, MS; Raymond H. Kim, MD, PhD; Munaza Chaudhry, PhD
(P541) Development of a Provincial Genetics Program in Ontario
Wednesday, 4:00 pm - 11:59 pm
Kathleen A. Bell, MSc; Syed Ahmed, BSc; Muna Aden, MPH; Rae Brager, MD; June Carroll, MD; Melissa T. Carter, MSc, MD, FRCPC, FCCMG; Dervla M. Connaughton, MD, PhD, MSc; James Dowling, MD, PhD; Angela Du, HBSc; Hanna Faghfoury, MD, FRCPC, FCCMG; Harriet E. Feilotter, PhD; Elaine Goh, MD, MSc, FRCPC, FCCM; Andrea Guerin, BSc, MD, MEd, FRCPC, FCCMG; Jennifer Hart, MPA; Ivy Haw, MHSc; Rachel M. Healey, BSc; Richard Kim, MD, FRCPC; Goran Klaric, MBA; Kaitlyn Lemay, MHSc, HBSc; Jerom Nguyen, MPH; Luis G. Peña, MHSc; Erin Redwood, MBA; Julie Richer, MD; Mary Schmitz, MHSc; Julia X. Su, MS; Frank Telfer, MSc; Wilson Yu, MSc, PhD; Aaron Pollett, MD; Raymond H. Kim, MD, PhD
(P209) Development of a single comprehensive genomic test based on long-read sequencing technology for the diagnosis of rare genetic disorders
Wednesday, 4:00 pm - 11:59 pm
Siddhartha Sen, MD, PhD; Hillary Handler, PhD; Matthew Bower, MS; Alec Victorsen, MS; Zach Flaten, BS; Aidan Ellison, BS; Todd Knutson, PhD; Sarah Munro, PhD; Bharat Thyagarajan, MD PhD
(P646) Development of an affordable rapid human genome sequencing assay using long read PromethiON 2
Wednesday, 4:00 pm - 11:59 pm
Wayne Xianding Deng, PhD; Monika Sun, PhD; Pauline Ng, PhD; Premal Shah, PhD; Kate Im, PhD; Akash Kumar, MD PhD
(P730) Development of Comprehensive Gene-/Disease-Specific Analysis and Knowledgebase to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting.
Wednesday, 4:00 pm - 11:59 pm
Xi Luo, Xi Luo, PhD; Dandan He, PhD; Yingjun Jiang, PhD; Yuandong Peng, PhD; Yaran Wen, PhD; Jun Yang, Ph.D.; Ying Zhou, PhD; John Lattier, PhD; Linyan Meng, PhD, FACMG
(P532) Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period
Wednesday, 4:00 pm - 11:59 pm
Emma Bedoukian, MS; Sara Reichert, MS; Elizabeth DeChene, MS; Alexandra Heck, BS; Jennifer Hershey, MPH; Morgan McManus, MS; Michelle Marchese, MS; Surabhi Mulchandani, MS; Francis Jeshira Reynoso Santos, MD; Katherine Taylor Wild, MD; Kathleen H. Wood, PhD; Laura K. Conlin, PhD; Matthew C. Dulik, PhD, FACMG; Ramakrishnan Rajagopalan, PhD; Nancy B. Spinner, PhD, FACMG; Ian D. Krantz, MD
(P774) Diagnosis of Au Kline Syndrome in a Fetus with Lower Urinary Tract Obstruction: Case Report and Literature Review
Wednesday, 4:00 pm - 11:59 pm
Natalie Burrill, MS, LCGC; Nahla Khalek, MD, MPH, MS; Desiree Fiorentino, MD, MBA, FACMG, FACOG; Beverly Coleman, MD, FACR; ERICA MA. SCHINDEWOLF, MS, LCGC; Lisa Pilchman, MS LCGC; Renee Wright, MS, LCGC; Haley Crane, MS, LCGC
(P241) Diagnostic Delays in ATP1A3 Disorders
Wednesday, 4:00 pm - 11:59 pm
Jenna Lea, CGC; Hailey Segall, MS; Claudia Testa, MD, PhD
(P604) Diagnostic utility of NGS testing in a highly consanguineous population: findings from 1400+ Iranian patients with Mendelian disorders
Wednesday, 4:00 pm - 11:59 pm
Ayda Abolhassani, MSc; Zohreh Fattahi, PhD; Maryam Beheshtian, MD, PhD; Mahsa Fadaee, MSc; Raheleh Vazehan, MSc; Fatemeh Ahangari, MSc; Shima Dehdahsi, MSc; Mehrshid Faraji Zonooz, MSc; Elham Parsimehr, MSc; Zahra Kalhor, MSc; Fatemeh Peymani, MSc; Maryam Mozaffarpour Nouri, BSc; Mojgan Babanejad, PhD; Khadijeh Noudehi, MSc; Fatemeh Fatehi, MSc; Shima Zamanian Najafabadi, MSc; Fariba Afroozan, MD; Hilda Yazdan, MD; Bita Bozorgmehr, MD; Azita Azarkeivan, MD; Shokouh Sadat Mahdavi, MD; Pooneh Nikuei, MD; Farzad Fatehi, MD; Payman Jamali, MD; Mahmoud Reza Ashrafi, MD; Parvaneh Karimzadeh, MD; Haleh Habibi, MD; Kimia Kahrizi, MD; Shahriar Nafissi, MD; Hossein Najmabadi, PhD; Ariana Kariminejad, MD
(P589) Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders
Wednesday, 4:00 pm - 11:59 pm
Volkan Okur, MD; Sowmya Thirumalai Srinivasa, MSc; Amanda Halstrom, MD; John N. Falcone, MD; Atteeq U. Rehman, PhD, FACMG; Amanda Thomas-Wilson, PhD, MS, FACMG; Saurav Guha, PhD, FACMG; Shruti Phadke, MS; Avinash Abhyankar, MD, PhD; Caroline Nava, PhD; Shahid Khan, PhD; Maurice A. Hurd, MA; Sarah L. Stewart, MD candidate; Katerine Claudio, BS; Anne Jablonski, NP, FNP-C; Jyothi Manohar, MPH; Sonal Kumar, MD, MPH; Michele Yeung, MD; Gregory Dakin, MD; Omar Bellorin-Marin, MD, FACS, FASMBS; Cheguevara Afaneh, MD, FACS; Lisa C. Hudgins, MD; Jessica Pena, MD; Esther Wei, NP; Laura Gingras, MD; Alexandra King, MD; Judy Tung, MD; Shuibing Chen, PhD; Ryan Smith, MPH; Theresa MacDonald, MBA; Megan J. Ritter, MD; Lauro C. Alonso, MD; Olivier Elemento, PhD; Miriam S. Udler, MD, PhD; Marcus D. Goncalves, MD, MSE, PhD; Vaidehi Jobanputra, PhD, FACMG; Ashley L. Wilson, MS
(P832) Discovering phenotype-gene correlations using Variant WorkBench
Wednesday, 4:00 pm - 11:59 pm
Yiran Guo, PhD; Qi Li, MSc; Jared Rozowsky, PhD; Jeremy Costanza, PhD; Michele Mattioni, PhD; Jean-Philippe Thibert, MSc; Miguel Brown, MA; David Higgins, PhD; Yuankun Zhu, BS; Allison Heath, PhD; Adam Resnick, PhD; Vincent Ferretti, PhD
(P893) Disparities in Pediatric Exome Sequencing Outcomes
Wednesday, 4:00 pm - 11:59 pm
Jacklyn Omorodion, MD; Asma Rashid, MS, CGC; Olaf A. Bodamer, MD, PhD, FACMG; Monica H. Wojcik, MD
(P030) Diverse Genetic Findings, Clinical Signs, and Newborn Screening History from a Long-Chain Fatty Acid Oxidation Disorders Gene Panel Sponsored Program
Wednesday, 4:00 pm - 11:59 pm
Nicole Miller, PhD; Heraclio Gutierrez, MD; Omid K. Japalaghi, MS; Laura Konczal, MD; Deborah Marsden, MBBS, FACMG; Markey C. McNutt, II, MD, PhD; Ana Morales, MS, CGC; Marcela Vela-Amieva, MD; Vanessa Rangel Miller, MS, MBA, CGC
(P740) DMD or not DMD? Clinical Genome Sequencing in the Interpretation of Complex Copy Number Gains
Wednesday, 4:00 pm - 11:59 pm
Edward J. Higginbotham, MSc; Lynette YS. Lau, MSc; Bhooma Thiruvahindrapuram, BSc, MSc; Jeffrey R. MacDonald, BSc; Wilson WL. Sung, MSc; Olivia M. Moran, MSc, MSc; Afia Hasnain, MBBS, PhD, FCCMG; Dimitri J. Stavropoulos, PhD, FCCMG; Melanie Beaulieu Bergeron, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Vanda McNiven, MD, MSc, FRCPC; Kathy M. Chun, PhD, FCCMG, FACMG
(P503) Do social needs at diagnosis influence acceptance of genetic testing? A retrospective sample of people with ovarian cancer
Wednesday, 4:00 pm - 11:59 pm
Nora B. Henrikson, PhD, MPH; Larissa L. White, PhD, MPH; Jamilyn M. Zepp, PhD, MPH; Mahesh Maiyani, PhD, MPH; Jennifer Sawyer, PhD, MPH; Aaron Scrol, PhD, MPH; Arvind Ramaprasan, PhD, MPH; Yolanda K. Prado, BS, CCRP; Sheila Weinmann, PhD, MPH; Heather S. Feigelson, PhD, MPH; Alan Rope, MD; Jessica E. Hunter, PhD
(P564) Doing no Harm: Exploring the Psychosocial Impacts of Receiving Secondary Findings from Whole Exome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Vanessa Rokoszak, MHSc; Yvonne Bombard, PhD; Marc Clausen, MA; Daena Hirjikaka, BSc; Salma A. Shickh, MSc; Keven Cheung, BSc
(P123) Donor-Cell Derived Hematological Neoplasm: Case Presentations of a Complex and Rare Event
Wednesday, 4:00 pm - 11:59 pm
Jeanine M. Ruggeri, PhD; Billie Carstens, BS; Veronica McDaniel, BS; Christine Henderson, BS; Hala Nijmeh, Ph.D., CG(ASCP)CM; Patricia Trevisan, Ph.D., CG(ASCPi)CM; Sudabeh Balakhani, BS; Kimberly Harding, BS; Aline Murakami-Walter, BS; Alexandra Ohene-Mobley, BS; Karen L. Swisshelm, PhD, FACMG; Stephen J. Wicks, PhD, FACMG; Laura Schultz-Rogers, PhD; Mary M. Haag, PhD, FACMG
(P113) Double Trouble: Unraveling the Clinical Challenges of Dual Pathogenic Variant Carriers in Hereditary Cancer Predisposition Genes
Wednesday, 4:00 pm - 11:59 pm
Katherine Hodson, MSc, CGC, CCGC; Mouna Ben Amor, MD; Yun Amber Zhu, PhD, MSc, CGC, CCGC; Jaime L. Jessen, MSc, CGC, CCGC
(P346) DTC-GT Case Scenarios: Comparing ChatGPT Answers to an Approach Developed by Genetics Health professionals
Wednesday, 4:00 pm - 11:59 pm
Christopher Baker, medical student; Iqbal Matebah, Medical student; Raymond Chen, medical student; Houriya Ayoubieh, MD; Tracey Weiler, PhD
(P748) Duplication of 12q24.11-q24.31 in a patient with Noonan-like features
Wednesday, 4:00 pm - 11:59 pm
Ludmila Francescatto, PhD; Benjamin T. Cocanougher, MD, PhD; Catherine W. Rehder, PhD, FACMG; Kristen Deak, PhD, FACMG; Areeg El-Gharbawy, MD, DSc; Stefan Rentas, PhD, FACMG; Sarah Rapisardo, PhD, FACMG
(P029) Early Treatment with Alglucosidase Alfa is Associated with Improved Survival in Patients with Infantile-onset Pompe Disease: Data from Pompe Registry
Wednesday, 4:00 pm - 11:59 pm
Priya S. Kishnani, MD; David W. Stockton, MD; Juan Llerena, Jr, MD, PhD; Julie L. Batista, ScD; Meredith Foster, PhD; Kathryn Wilson, PhD; Susan Sparks, MD, PhD; Hannerieke van den Hout, MD; Yin-Hsiu Chien, MD, PhD; Alexander Broomfield, MBBS; Andreas Hahn, MD
(P791) Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples
Wednesday, 4:00 pm - 11:59 pm
Laila Rhee, MS; Krishna R. Singh, MD, FACMG, FACOG; Noura Osman, MSc; Elyse Love, MS; Kathryn Rice, MSc; Paige Cleek, MS
(P795) Effectiveness of expanded prenatal carrier screening among consanguineous couples of Afghan descent
Wednesday, 4:00 pm - 11:59 pm
Laila Rhee, MS; Krishna R. Singh, MD, FACMG, FACOG; Noura Osman, MSc; Herman L. Hedriana, MD
(P048) Effects of liver-specific SHMT2 deletion on amino acid levels in mice
Wednesday, 4:00 pm - 11:59 pm
Lidong Zhai, PhD; Guohua Chen, PhD; Rachel Zhai, High school; Xun Bao, PhD; Jing Li, PhD; Jian Wang, PhD, MD
(P864) Employees’ views and healthcare utilization following employer-sponsored pharmacogenomic testing at a large US healthcare system
Wednesday, 4:00 pm - 11:59 pm
Elizabeth Charnysh, MS, CGC; Subhamoy Pal, PhD; Jonathan M. Reader, MS; Sarah McCain, MPH; Katherine Hendy, PhD; Kunal Sanghavi, MBBS, MS, CGC; Wendy R. Uhlmann, MS, LCGC; William G. Feero, MD, PhD; Anya ER. Prince, JD; Rachael Brandt, PhD, MS; Rebecca Ferber, MPH; Veda N. Giri, MD; Charles Lee, PhD, FACMG; J. Scott Roberts, PhD
(P081) Enhancing minimally invasive minimal residual disease detection of multiple myeloma using cell-free DNA whole-genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Dor D. Abelman, BSc, PhD(c); Madhuran Thiagarajah, MHI; Felix Beaudry, PhD; Stephanie Pederson, BSc; Jeffrey Bruce, PhD; Stephenie Prokopec, BSc; Danielle Croucher, PhD, MSc; Cecilia Bonolo De Campos, PhD; Arnavaz Danesh, BSc; Ellen N. Wei, MSc; Saumil Shah, MSc; Alli Murugesan, PhD, MSc; Anthony Reiman, MD; Suzanne Trudel, MD, MSc; Trevor J. Pugh, PhD; Jenna Eagles, OCAD
(P528) Enhancing Physician Support for Genetic Testing in Familial Hypercholesterolemia with a Comprehensive SmartSet
Wednesday, 4:00 pm - 11:59 pm
Cassidi D. Kalejta, MS; Yirui Hu, PhD; Dylan Cawley, MPH, CPH; Ryan Colonie, BS; Lester Kirchner, PhD; Marc S. Williams, MD, FAAP FACMG FACMI; Samuel S. Gidding, MD; Laney K. Jones, PharmD, MPH
(P151) Enhancing understanding of SCN1A-related disorders through phenotype harmonization
Wednesday, 4:00 pm - 11:59 pm
Anna J. Prentice, HBSc; Stacey Cohen, MS, CGC; Sarah McKeown, MS,LCGC; Jan Magielski, Undergraduate Student; Arjun Pillai, Undergraduate Student; Michael Kaufman, MS; Laura J. Conway, PhD; Ingo Helbig, MD
(P491) Enrollment of a Diverse Population into a Trial of Newborn Genomic Sequencing: Preliminary Data from the BabySeq Project
Wednesday, 4:00 pm - 11:59 pm
Kurt D. Christensen, PhD; Hadley S. Smith, PhD, MPSA; Madison R. Hickingbotham, MS; Bethany Zettler, MS, CGC; Stacey Pereira, PhD; Bruce R. Korf, MD, PhD; Bruce D. Gelb, MD; Carol R. Horowitz, MD; Ramin Homayouni, PhD; Amy L. McGuire, JD, PhD; Ingrid A. Holm, MD, MPH, FACMG, FAAP; Robert C. Green, MD, MPH
(P429) Epidemiological Assessment of Autosomal Recessive Founder Mutations in the Canadian Mennonite Population
Wednesday, 4:00 pm - 11:59 pm
Bradley Prince, MD, MBA; Tisiana Low, MBChB, MSc; Ronald Agatep, PhD, FCCMG; Beth Spriggs, PhD, FCCMG; Richard Leduc, MS, PhD; Matthew Kraljevic, BE; Ashish K. Marwaha, MD PhD; Lindsay Fithen, None; Tatiana Kalashnikova, LMCC MD PhD; Nicola Wright, MD, MSc, FRCPC
(P568) Evaluating family-centered care in Pediatric Orthopedics at BC Children’s Hospital: parents’/caregivers’ perspectives
Wednesday, 4:00 pm - 11:59 pm
Courtney B. Cook, MSc, CGC; Harpreet Chhina, PhD; Anthony Cooper, FRCS, MBChB; Ye Shen, MPH; GenCOUNSEL Study, N/A; Alison M. Elliott, PhD, MS, CGC
(P826) Evaluating HLA allele-disease associations in ClinGen: Development of a new curation tool
Wednesday, 4:00 pm - 11:59 pm
Ingrid M. Keseler, PhD; Mónica Bowen, PhD; Michelle Whirl-Carillo, PhD; Gloria Cheung, BA; Clarissa J. Klein, BA; Mark E. Mandell, BS; Rachel Shapira, ScM, CGC; Matt W. Wright, PhD; Louis Bridges, Jr, MD, PhD; Marcelo Fernandez-Viña, PhD; Steven J. Mack, PhD; Teri E. Klein, PhD; Obed A. Garcia, PhD
(P537) Evaluating Parental Empowerment and Satisfaction in Neonatal Intensive Care Units for Families Experiencing Genetic Testing: a Mixed-Methods Study
Wednesday, 4:00 pm - 11:59 pm
Sunu Kim, BSc; Sylvie Langlois, MD; Horacio Osiovich, MD, FRCP; Alice Virani, MA (Oxon), MS, MPH, PhD; GenCOUNSEL Study, N/A; Alison M. Elliott, PhD, MS, CGC
(P889) Evaluating Social Influences on Blood Phenylalanine Levels in Phenylketonuria Patients
Wednesday, 4:00 pm - 11:59 pm
Cassandra Afseth, BS; Josh Knutsen, N/A; Thomas Lamborn, N/A; Erika Vucko, APRN, MSN; Kirsten Havens, BSN, RN; Soo Shim, LCSW; Joshua Baker, DO, FAAP, FACMG
(P203) Evaluating the impact of Omega-3 fatty acid supplementation on lipid profiles in adults with PPARG polymorphisms: randomized, double-blind, placebo-controlled trial
Wednesday, 4:00 pm - 11:59 pm
Evgeny Pokushalov, MD, PhD, FACC, FHRS; Andrey Ponomarenko, MD; Charles Garcia, MD; Sevda Bayramova, MD; Inessa Pak, MD; Evgenia Shrainer, MD; Michael Johnson, MD; Richard Miller, MD
(P006) Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort
Wednesday, 4:00 pm - 11:59 pm
Katharine Chaillet, BA; Shannon Haines, MS, CGC; Jacob Keaton, PhD; Slavina B. Goleva, PhD; Tam C. Tran, MS; Dayo Shittu, MS, MPH; Tracey M. Ferrara, PhD; Joshua C. Denny, MD, MS, FACMI; Huan Mo, MD; Oleg A. Shchelochkov, MD
(P590) Evaluation of Stop-Loss and Frameshift Variants Extending Translation Beyond the Reference Stop Codon Detected by Carrier Screening
Wednesday, 4:00 pm - 11:59 pm
Shahida Flores, PhD; Matthew Prego, MS; Trevor B. Smart, MS; Jocelyn Wang, PhD; Julie Agapite, PhD; Sindhu Arun, MS; Melissa Chowning, MS; Svetlana Gramatikova, PhD; Kim Hohlt, PhD; Lili Li, MD, PhD; Rebecca Ross, MA, MS, CGC; Priyanka Arya, PhD, FACMG; Nina Sanapareddy, PhD
(P305) Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international pilot study
Wednesday, 4:00 pm - 11:59 pm
Nicole Si Yan Liang, MSc, CGC, CCGC; Gregory Costain, MD, PhD, FRCPC; Alissa H. D'Gama, MD, PhD; Amy McTague, MBBS; Katherine Howell, MBBS(Hons); Vann Chau, MD, FRCPC; Sarah Mulhern, MGenCouns; Annapurna H. Poduri, MD, MPH; Beth Sheidley, MS. CGC; Meredith Curtis, BSc, MSc; Edward J. Higginbotham, MSc; Tayyaba Khan, MPH; Lyndsey McRae, MN; Kimberly Wiltrout, MD; Robin Z. Hayeems, ScM, PhD; Puneet Jain, MD; Sebastian Lunke, PhD; Christian Marshall, PhD, FACMG, FCCMG; Lyn Chitty, MD; Shira Rockowitz, PhD; Zornitza Stark, MD; Susan White, MD; Ingrid Scheffer, PhD
(P527) Evidence-Based Methodology for Developing Coordinated Genetic Service Recommendations in Ontario
Wednesday, 4:00 pm - 11:59 pm
Luis G. Peña, MHSc; Angela Du, HBSc; Kaitlyn Lemay, MHSc, HBSc; Kathleen Bell, MSc; Raymond H. Kim, MD, PhD
(P677) Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
Wednesday, 4:00 pm - 11:59 pm
Melissa A. Kelly, MS, CGC; Hana Zouk, MS, PhD, FACMG; James S. Ware, MD, PhD; Birgit Funke, PhD, FACMG; Kate L. Thomson, PhD, FRPC
(P591) Examining Likely-somatic Variants in Cancer Susceptibility Genes Identified Through Germline Multigene Panel Testing
Wednesday, 4:00 pm - 11:59 pm
Urmi Sengupta, PhD; Kate Loranger, MS, CGC; Jingwen Zhang, PhD; Jeffrey N. Weitzel, MD; Mia Mackall, MS, CGC; Youbao Sha, PhD, FACMG
(P047) Exit Interviews with Caregivers of Pediatric Patients with Classic Galactosemia Demonstrate the Meaningfulness of Changes in the ACTION-Galactosemia Kids Trial
Wednesday, 4:00 pm - 11:59 pm
Evan Bailey, MD; Jason Randall, MSc, PhD; Carolyn Sutter, PhD; Lydia Raither, MSc; Stella Wang, BSPharm, MS, MPH; Riccardo Perfetti, MD, PhD; Shoshana Shendelman, PhD; Claire Burbrdige, MSc, CPsychol
(P254) Exome Sequencing as a first-tier approach for rare forms of syndromic hearing loss.
Wednesday, 4:00 pm - 11:59 pm
Carson A. Smith, MS; Dayna Morel, MS; LéShon Peart, MD; Memoona Ramzan, PhD; Mustafa Tekin, MD
(P149) Exome sequencing vs chromosomal microarray for copy number variant detection
Wednesday, 4:00 pm - 11:59 pm
Kirsty McWalter, MS, CGC; Ganka V. Douglas, PhD; Amanda S. Lindy, PhD; Jane Juusola, PhD, FACMG; Paul Kruszka, MD
(P247) Expanded Phenotype & Pathogenesis of the Novel TFE3-Related Lysosomal Disorder
Wednesday, 4:00 pm - 11:59 pm
Kim M. Keppler-Noreuil, MD; Sharon Luu, MS, CGC; Eyby Leon, MD; Katryn Furuya, MD; Seth I. Berger, MD, PhD
(P319) Expanding the Phenotype of EIF3F-related Neurodevelopmental Disorder
Wednesday, 4:00 pm - 11:59 pm
Zohra Shad, M.D; FACMG; Elena A. Repnikova, PhD; Isabella Aguiar, MD Candidate, Class of 2026; Laiba Hassan, UT Dallas -Undergrad; Prisca Mbonu, MS II
(P345) Expanding the phenotype of an ultra-rare neurodevelopmental disorder associated with NACC1
Wednesday, 4:00 pm - 11:59 pm
Angelica A. Moresco, MD; Dorsa Kord, BHSc; Sunita Venkateswaran, MD
(P400) Expanding the Phenotype of NAA10 Related Ogden Syndrome
Wednesday, 4:00 pm - 11:59 pm
Brooke Schwartz, BS; Juan Cordero, BS; Potyra Rosa, MD, MS; Craig McKeown, MD; Parul Jayakar, MD, MS, FACMG
(P426) EXPANDING THE PHENOTYPE SEEN IN SPEG-RELATED CONGENITAL MYOPATHY
Wednesday, 4:00 pm - 11:59 pm
Julie Kaplan, Julie Kaplan; Adnan Alsadah, MD
(P180) Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach
Wednesday, 4:00 pm - 11:59 pm
Maria J. Guillen Sacoto, MD; Houda Elloumi, PhD, FACMG; Stephen McGee, PhD; Vincent Ustach, PhD; Tracy Brandt, PhD, FACMG
(P295) Expanding the Prenatal Phenotype of a Rare Syndrome Due to Variants in DPH1
Wednesday, 4:00 pm - 11:59 pm
Emily Dunn, MD; Dena R. Matalon, MD; Carly M. Smith, MGC; Catrina Loucks, PhD; A Micheil Innes, MD FRCPC FCCMG
(P043) Experiences with VLCADD in the Old Order Amish Community
Wednesday, 4:00 pm - 11:59 pm
Rhonda Anderson, MSN, FNP-C; Zineb Ammous, MD; Nicole Bertsch, MS, CGC
(P294) Exploring Episignatures as a Potential Diagnostic Tool for Diabetic Embryopathy
Wednesday, 4:00 pm - 11:59 pm
Ava G. Schwan, BS candidate; Daniel T. Swarr, MD; Anne M. Slavotinek, MBBS, PhD, FACMG; Farrah Jackson, MS, CCRP; David Russell, JD
(P565) Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers
Wednesday, 4:00 pm - 11:59 pm
Karyn J. Roberts, PhD, RN; Eileen Chaves, PhD, MSc; Vidhu V. Thaker, MD; Chi C. Cho, MS; Helen J. Binns, MD, MPH; Adolfo J. Ariza, MD
(P213) Exploring heterogeneity among gene lists proposed for newborn sequencing
Wednesday, 4:00 pm - 11:59 pm
Thomas Minten, PhD; Sophia Adelson, BA; Laura M. Amendola, MS; David Bick, MD; François Boemer, PharmD, EuSpLM, PhD; Alison J. Coffey, PhD; Nicolas Encina, MS, MS, MBA; Bianca E. Russell, MD; Laurent Servais, MD, PhD; Kristen L. Sund, PhD, CGC; Ryan J. Taft, PhD; Robert C. Green, MD, MPH; Nina B. Gold, MD
(P022) Exploring Preanalytical Factors Impacting Plasma cell-free miRNA-451 Levels
Wednesday, 4:00 pm - 11:59 pm
Dinesh S. Chandel, PhD; Wesley A. Tom, BA; Gary Krzyzanowsky, BS; M. Rohan Fernando, PhD
(P866) Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
Wednesday, 4:00 pm - 11:59 pm
Katharine Fooks, BSc,MSc; Lydia Vermeer, MSc; Elise Poole, MHSc; Stephanie Luca, MA; Riyana Babul-Hirji, MSc; Lauren Chad, MD; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS; Michael P. Mackley, MD, DPhil; Wendy J. Ungar, MSc, PhD; Marci LB. Schwartz, MS, CGC; Secondary Findings Study Team, N/A; Katharine Fooks, BSc,MSc; Lydia Vermeer, MSc; Stephanie Luca, MA; Riyana Babul-Hirji, MSc; Joyce Yan, HBSc; Abigail Hansen, N/A; Viji Venkataramanan, MSc; Elise Poole, MHSc; Daniel Assamad, MHSc; Christian R. Marshall, PhD; Meredith K. Gillespie, MSc; Anna Szuto, MSc; Caitlin Chisholm, MSc; James Stavropoulos, PhD; Lijia Huang, PhD; FCCMG; Olga jarinova, PhD; FCCMG; Lynette Lau, MSc; Whiwon Lee, MS, CGC; Lauren Badalato, MS, MD, BS; Tugce B. Balci, MD, FRCPC, FCCMG; Lauren Chad, MD; Cara Inglese, MSc, CGC; Virginie Beausejour Ladouceur, MD; Michael P. Mackley, MD, DPhil; Chantal F. Morel, MD; Julie Richer, MD; Mark Tarnopolsky, MD, PhD; Anita Villani, MD, MSc; Laura Zahavich, M.Sc., CGC; Olivia M. Moran, MSc, MSc; Sarah L. Sawyer, MD/PhD; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC; Martin J. Somerville, MSc, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Wendy J. Ungar, MSc, PhD; Robin Z. Hayeems, ScM, PhD; Robin Z. Hayeems, ScM, PhD
(P049) Exploring the Landscape of Phenylketonuria Education and Learning Needs of Genetics Trainees
Wednesday, 4:00 pm - 11:59 pm
Sarah Rose, MS, RD; Kyle Lamprecht, MS, RD; Bridget Wardley, MS, RD; Kristin Lindstrom, MD
(P041) False Positive VLCAD Deficiency Screening: Proposed Effect of Testosterone
Wednesday, 4:00 pm - 11:59 pm
Nicole McPhillips, BS; Amy Calhoun, MD; Emily Phillips, RN, BSN; Jaclyn Kotlarek, MS; Jacob Ginter, MS; Georgianne Younger, MS
(P236) Familial Russell-Silver Syndrome: Hypomethylation of Imprinting Center 1 in Two Siblings
Wednesday, 4:00 pm - 11:59 pm
Kendra Engleman, MS, CGC; Joseph T. Alaimo, PhD, FACMG; Ana SA. Cohen, PhD; Bonnie R. Sullivan, MD
(P287) Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2
Wednesday, 4:00 pm - 11:59 pm
Chelsi Rose, DO; Elizabeth A. Mizerik, MS, CGC; Nichole Owen, PhD, FACMG; Casey A. Thornton, PhD; Chaya N. Murali, MD, FACMG; Lorraine Potocki, MD
(P338) Far from Futile: The Value of Perimortem Rapid Exome
Wednesday, 4:00 pm - 11:59 pm
Cassandra M. Starks, DNP, APRN; Margaret G. Au, MBE, MS, CGC
(P172) Feasibility of Providing Genetic Cancer Risk Information to Families of Patients who are Deceased: Experiences of the GRACE Study
Wednesday, 4:00 pm - 11:59 pm
Jessica E. Hunter, PhD; Yolanda K. Prado, BS, CCRP; Ana A. Reyes, BA; Jamilyn M. Zepp, MS, CGC; Mahesh Maiyani, MBA; Jennifer Sawyer, BA; Larissa L. White, PhD, MPH; Sarah Vertrees, BS; Alan Rope, MD; Sheila Weinmann, PhD, MPH; Sandra S. Lee, PhD; Nora Henrikson, PhD, MPH; Heather S. Feigelson, PhD, MPH
(P773) Fetus with Cole-Carpenter Type 2 Presenting with Novel Neonatal Lethal Skeletal Dysplasia
Wednesday, 4:00 pm - 11:59 pm
Natalie Burrill, MS, LCGC; Renee Wright, MS, LCGC; ERICA MA. SCHINDEWOLF, MS, LCGC; Lisa Pilchman, MS LCGC; Haley Crane, MS, LCGC; Christina Paidas Teefey, MFM; Minh-Huy Le Huynh, MD
(P221) Fibrodysplasia Ossificans Progressiva (FOP): The Patient Experience
Wednesday, 4:00 pm - 11:59 pm
Jeanna Cooper, PharmD; Alan Shields, PhD; Monica Brova, MPH; Megan McLafferty, MA; Daniella Olonilua, MS; Sara Green, MS; Elaine Böing, MPH, BPharm; Negar Karimian, MD, PhD; Roger Lamoureux, MDiv
(P895) Financial Resources for Cancer Genetic Testing: A Quality Improvement Project in a Detroit Metro Area Community Hospital
Wednesday, 4:00 pm - 11:59 pm
allison jay, MD; sharmi deb, bs; morgan devlin, BS,Masters in Genetic counseling; catherine patterson, MA; M.Susan Jay, MD
(P606) Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program
Wednesday, 4:00 pm - 11:59 pm
Stephen Meyn, MD, PhD; Bryn Webb, MD; Derek Pavelek, PhD; Heather Motiff, MSc, CGC; Jadin Heilmann, BS; Hieu Nguyen, PhD; Xiangqiang Shao, PhD; Vanessa Horner, PhD, FACMG; April Hall, MSc, PhD, CGC
(P092) FISH Testing for cMET Amplification in 627 Molecularly Mutational Negative Patients with Non-Small Cell Lung Cancers: A Single Institution's Experience
Wednesday, 4:00 pm - 11:59 pm
Jinglan Liu, B.Med., M.Med., Ph.D., FACMG; Herbert E. Auerbach, D.O.; Stephen C. Peiper, M.D.; Zi-Xuan Wang, Ph.D.; Charalambos C. Solomides, M.D.
(P673) Four Cases of unbalanced (Xq28 / Yq12):autosome translocation identified by chromosomal microarray analysis
Wednesday, 4:00 pm - 11:59 pm
Kilannin Krysiak, PhD, FACMG; Yang Cao, PhD, FACMG; Katarzyna Polonis, PhD; Joan Fritz, BS; Ina E. Amarillo, PhD, FACMG; Julie A. Neidich, MD; Molly C. Schroeder, PhD; Kate Stehl, BS, CG(ASCP)CM, MLS(ASCP)CM
(P199) Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK
Wednesday, 4:00 pm - 11:59 pm
Sarah D. Barns, MPH; Jessica R. Wright, PhD; Alexandra Goler, BS; Jacob B. Hall, PhD; Irina Astrovskaya, PhD; Bing Han, MS; SPARK Consortium, NA; Natalia Volfovsky, PhD; Aaron Wong, PhD; Pamela Feliciano, PhD; Wendy K. Chung, MD, PhD, FACMG
(P163) Functional Assessment of IGF-1 and hGH as candidate treatments for Phelan-McDermid syndrome
Wednesday, 4:00 pm - 11:59 pm
Bridgette A. Moffitt, PhD; Jillian Spencer, BS; Luigi Boccuto, MD; Sara M. Sarasua, PhD; William E. Bennett, MD; Diana Ivankovic, PhD; Jennifer Benjock, BS; Katy C. Phelan, PhD; Mary Kearns, BS; Curtis Rogers, MD
(P664) Functional Genomic Studies Resolve an OTUD6B Deep Intronic Variant Causing Isoform Imbalance
Wednesday, 4:00 pm - 11:59 pm
Jessica A. Cooley Coleman, PhD; Sneha Mokashi, PhD; Adithya Kandhadai, PhD; Aubrey Rose, MS, CGC; Richard Steet, PhD; Raymond J. Louie, PhD, FACMG; Michael J. Lyons, MD; Fatima E. Abidi, PhD, FACMG
(P255) Gain-of-Function CASR Variants, a Common Genetic Cause of Non-Surgical Hypoparathyroidism: Findings from a Sponsored Genetic Testing Program
Wednesday, 4:00 pm - 11:59 pm
Arun S. Mathew, PharmD, MBA, MPS, MPH; Ananth V. Sridhar, MBA; Mary Scott Roberts, MD; Lyndsay M. Smith, PhD; Scott H. Adler, MD; Michael Mannstadt, MD
(P249) Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines
Wednesday, 4:00 pm - 11:59 pm
Ali AlMail, BA; Ahmed Jamjoom, MBBS; Amy Y. Pan, HBSc.; Anna Feng, BSc.; Vann Chau, MD, FRCPC; Alissa D'Gama, MD, PhD; Katherine Howell, MBBS(Hons); Nicole Si Yan Liang, MSc, CGC, CCGC; Amy McTague, MBBS; Annapurna H. Poduri, MD, MPH; Kimberly Wiltrout, MD; Anne Bassett, MD; John Christodoulou, MD PhD; Lucie Dupuis, M.Sc., MS, CGC; Peter Gill, MD, DPhil, M.Sc., FRCPC; Tess Levy, MSc.; Paige Siper, PhD; Zornitza Stark, MD; Jacob Vorstman, MD, PhD; Catherine Diskin, MB, BCh, BAO, MRCPI (Paeds), MSc; Natalie Jewitt, MD, FRCPC, MHSc; Danielle Baribeau, MD, PhD; Gregory Costain, MD, PhD, FRCPC
(P674) Gene Variant Spectrum in Probands with Familial Exudative Vitreoretinopathy
Wednesday, 4:00 pm - 11:59 pm
Sarah R. van der Ende, BSc; Johane Robitaille, MD; Christopher McMaster, PhD; Daniel Gaston, PhD; Mathew Nightingale, BSc; Karin Wallace, BSc
(P598) Gene-disease validity assessments in pediatric movement disorders: prospective experience and retrospective analysis of concordance with expert curated panels
Wednesday, 4:00 pm - 11:59 pm
Nidhi D. Shah, MD, FACMG; Udhaya Dr. Kotecha, MD; Parth S. Shah, MD; Pranav Chand Rayabarapu, PhD; Mehul Mistri, PhD; Nupur Thakur, MS
(P570) Generating a framework for curating mechanism of disease in monogenic conditions: a consensus effort of the Gene Curation Coalition
Wednesday, 4:00 pm - 11:59 pm
Marina T. DiStefano, PhD, FACMG; Fowzan S. Alkuraya, MD, FACMG; Joanna Amberger, PhD; Christina Austin-Tse, PhD; Ola Austine, BS; Marie Balzotti, MS; Jonathan S. Berg, MD PhD; Elspeth Bruford, PhD; Alicia B. Byrne, PhD; Elena Cibrian-Uhalte, PhD; Alison J. Coffey, PhD; Helen Firth, PhD; Ada Hamosh, MD, MPH; Sarah Hunt, PhD; Teri E. Klein, PhD; Catherine Kurtz, PhD; Sarah E. Leigh, PhD; Ivone US. Leong, PhD; Caterina Lucano, PhD; Sateesh Maddirevula, PhD; Audrey O'Neill, PhD; Arina Puzriakova, MS; Ana Rath, PhD; Angharad Roberts, MD; Kelly Radtke, PhD; Erin M. Ramos, MPH, PhD; Erin Riggs, MSGC, CGC; Charlotte Rodwell, PhD; Julie Taylor, PhD; Katrin Sangkuhl, PhD; Catherine Snow, PhD; Zornitza Stark, Dr, MD; James S. Ware, MD; Bess Wayburn, PhD, CGC; Phillip Weller, MS; Heidi L. Rehm, PhD, FACMG
(P158) Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations: Initial Data from the Multicenter GALAXY Clinical Data Registry and Biorepository
Wednesday, 4:00 pm - 11:59 pm
Susan Howell, MS, CGC, MBA; Kayla Molison, BA; Alexandra Carl, MPH; Nicole Tartaglia, MD, MS; Carol Meerschaert, RD; Gail Decker, BS; Ryan Brigante, BA; Shanlee Davis, MD,PhD
(P550) Genetic Counselors’ Perspectives on Shifting Emphasis to Post-Test Counseling Following Germline Genetic Testing in Cancer Care
Wednesday, 4:00 pm - 11:59 pm
Jill E. Stopfer, MS, LGC; Farid Barquet-Ramos, MS, MPH, LGC; Sarah McGraw, PhD; Alison T. Slack, MALD; Franciluz Lizardo-Bueno, BS; Alexander D. Husband, BA; Judy E. Garber, MD, MPH; Deborah L. Toppmeyer, MD; Huma Q. Rana, MD, MPH
(P871) Genetic Insight, Social Impact: Transforming Care through Sotos Syndrome Diagnosis
Wednesday, 4:00 pm - 11:59 pm
Dan R. Brooks, MD; Liz Mizerik, MS; Liesbeth Vossaert, PhD, FACMG; Seema Lalani, MD; Monika Weisz-Hubshman, MD, PhD; Lorraine Potocki, MD; Laurie Robak, MD, PhD
(P602) Genetic Modifiers As a Basis For Phenotypic Variability in Mosaic Trisomy 8
Wednesday, 4:00 pm - 11:59 pm
Zakia IA. Abdelhamed, MBChB, PhD; Daniel Dykas, MSc; Autumn DiAdamo, MSc; Jai-Di Wen, MD & PhD; Hui Zhang, MD and PhD; Michele Spencer-Manzon, MD; Peining Li, PhD; Yong-Hui Jiang, MD and PhD; Allen E. Bale, MD
(P556) Genetic Providers’ Views on Trauma-Informed Care in Genetics Clinics
Wednesday, 4:00 pm - 11:59 pm
Amy Gaviglio, MS, CGC; Kelsey Sala Hamrick, PhD; Jessica Scott Schwoerer, MD; Loan Stone, MPH; Kaitlin Justice, MPH; Mathew Edick, PhD
(P622) Genetic results in a cohort of 489 patients with inherited myopathies
Wednesday, 4:00 pm - 11:59 pm
Kim Gall, MSc; Julie Hathaway, MSc., CGC, CCGC; Lotta Koskinen, PhD; Kirsi Alakurtti, PhD, CLG; Äsa Hagström, PhD; Monica Segura, PhD; Heli Kuisma, PhD; Eija Seppala, PhD; Janica Djupsjöbacka, MSc; Mikko Muona, PhD; Tuuli Pietila, PhD; Pertelli Salmenpera, PhD; Inka Saarinen, MSc.; Ray Veeraraghavan, Exec Dir, ADx Technology; Samuel Myllykangas, PhD; Juha W. Koskenvuo, MD, PhD
(P010) Genetic testing is incompletely sensitive for treatable inherited metabolic disorders
Wednesday, 4:00 pm - 11:59 pm
Sarah L. Bick, MD; Nina B. Gold, MD, FACMG; Monica H. Wojcik, MD; Robert C. Green, MD, MPH
(P220) Genetic Testing Reveals Underascertainment of Monogenic Diabetes: An Update from the Rare and Atypical DIAbetes NeTwork (RADIANT)
Wednesday, 4:00 pm - 11:59 pm
Kristin A. Maloney, MS, MGC, CGC; Jennifer E. Posey, MD, PhD, FACMG; Lisa Letourneau-Freiberg, MPH, RD, LDN; Toni I. Pollin, PhD; Klara R. Klein, MD, PhD; Miriam S. Udler, MD, PhD
(P219) Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
Wednesday, 4:00 pm - 11:59 pm
Tobias Boettcher, MD; Christian Beetz, PhD; Daniel Schulze, PhD; Deepa Saravanakumar, .; Emir Zonic, M.Sc.; Sabine Schroeder, PhD; Anett Kaune, .; Omid Paknia, PhD; Jorge Pinto Basto, PhD; Peter B. Bauer, MD
(P767) Genetics of Prenatally Diagnosed Micro/Anophthalmia
Wednesday, 4:00 pm - 11:59 pm
Natalie Burrill, MS, LCGC; Julie Moldenhauer, MD, FACOG, FACMG; ERICA MA. SCHINDEWOLF, MS, LCGC; Renee Wright, MS, LCGC; Lisa Pilchman, MS LCGC; Haley Crane, MS, LCGC; Edward R. Oliver, MD, PhD; Nahla Khalek, MD, MPH, MS; Juliana Gebb, MD; Shelly Soni, MD; Christina Paidas Teefey, MFM
(P828) GenIDA, an international participatory database to better characterise comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome
Wednesday, 4:00 pm - 11:59 pm
Pauline Burger, PhD; Valentin Ruault, MD PhD; David Genevieve, MD, PhD; Elana J. Forbes, PhD candidate; Lottie D. Morison, PhD Candidate, Research Assistant; Angela T. Morgan, PhD; Jean-Louis Mandel, MD PhD
(P185) Genome and Exome Sequencing to Define Cardiac Phenotypes in Diagnostic Odyssey Cases
Wednesday, 4:00 pm - 11:59 pm
Marta Figueiral, MD; Alessia Paldino, MD; Matheus Wilke, MD. Ph.D.; Brendan Lanpher, MD; Ralitza Gavrilova, MD; Karthik Muthusamy, MBBS, MD, FACMG; Pavel Pichurin, MD; Radhika Dhamija, MD; Klaas J. Wierenga, MD; Myra J. Wick, MD, PhD; Lisa A. Schimmenti, MD, FACMG; Konstantinos Lazaridis, M.D.; Eric W. Klee, PhD; Naveen L. Pereira, MD
(P714) Genome Screening of Newborns: Sequencing is Easy, Assessing the Clinical Utility of Genomic Findings Uncovered in Asymptomatic Children is Challenging
Wednesday, 4:00 pm - 11:59 pm
Jorune Balciuniene, PhD, FACMG, ErCLG; Ruby Liu, MS, PhD; Lora H. Bean, PhD; Babi Ramesh Reddy Nallamilli, PhD; Naga M. Guruju, PhD, FACMG; Xiangwen Chen-Deutsch, PhD, FACMG; Rizwan Yousaf, PhD; Kristina Fura, BS; Eprem Chin, MBA, BTech(Hon), MB(ASCP), QLC; Abhinav Mathur, MS; Zeqiang Ma, PhD; Jonathan Carmichael, PhD; Steven Bleyl, MD/PhD; Christin D. Collins, PhD, FACMG; Cristina da Silva, MS; Brian M. Kirmse, MD, MS; Madhuri Hegde, PhD, FACMG
(P726) Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing
Wednesday, 4:00 pm - 11:59 pm
Sarah S. Barnett, MS; Laura M. Rust, MS, CGC; Alanna M. Cera, MS, CGC; Lidija K. Gorsic, Ph.D.; Nicole J. Boczek, Ph.D.
(P665) Genome Sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of Preimplantation Genetic Testing.
Wednesday, 4:00 pm - 11:59 pm
Nisha Kanwar, PhD; Lidija K. Gorsic, Ph.D.; Laura M. Rust, MS, CGC; Nicole L. Hoppman, PhD, FACMG; Wei Shen, PhD, FACMG; Myra J. Wick, MD, PhD
(P819) Genome-wide Resolution of Highly Homologous Genes Using Long-read PacBio HiFi Sequencing
Wednesday, 4:00 pm - 11:59 pm
Xiao Chen, PhD; Egor Dolzhenko, PhD; Emily G. Farrow, PhD, CGC, DABMGG; Isabelle Thiffault, PhD, MsC, FABMGG; Alexander Hoischen, PhD; Tomi Pastinen, MD, PhD; Michael A. Eberle, PhD
(P540) Genome-Wide Sequencing Ontario (GSO): Canada’s First Provincial Clinical Genome-wide Sequencing Service
Wednesday, 4:00 pm - 11:59 pm
Meredith K. Gillespie, MSc; Robin Z. Hayeems, ScM, PhD; Christian R. Marshall, PhD, FACMG, FCCMG; Anna Szuto, MSc; Caitlin Chisholm, MSc; James Stavropoulos, BSc, MSc, PhD, FCCMG; Lijia Huang, PhD; FCCMG; Lynette YS. Lau, MSc; Wilson WL. Sung, MSc; Melanie Beaulieu Bergeron, PhD; Ted Higginbotham, MSc; Meredith Curtis, BSc, MSc; Venuja Sriretnakumar, PhD; Hassan S. Zaidi, MSc; Emma Hitchcock, MSc, MSc; Audrey Schaffer, MSc; Taila Hartley, PhD, MSc, MSc, CCGC; Sarah L. Sawyer, MD/PhD; Wendy J. Ungar, MSc, PhD; Gregory Costain, MD, PhD, FRCPC; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC; Anna Pan, MSc; Jennifer Keating, MSc; Diana Matviychuk, MSc; Tamara Braid, MSc; Niri Carroll, MSc; Martin J. Somerville, MSc, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG
(P616) Genome-Wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
Wednesday, 4:00 pm - 11:59 pm
Meredith K. Gillespie, MSc; Robin Z. Hayeems, ScM, PhD; Christian R. Marshall, PhD, FACMG, FCCMG; Anna Szuto, MSc; Caitlin Chisholm, MSc; Wendy J. Ungar, MSc, PhD; James Stavropoulos, BSc, MSc, PhD, FCCMG; Lijia Huang, PhD; FCCMG; Viji Venkataramanan, MSc; Lynette YS. Lau, MSc; Wilson WL. Sung, MSc; Melanie Beaulieu Bergeron, PhD; Ted Higginbotham, MSc; Meredith Curtis, BSc, MSc; Venuja Sriretnakumar, PhD; Hassan S. Zaidi, MSc; Emma Hitchcock, MSc, MSc; Audrey Schaffer, MSc; Sarah L. Sawyer, MD/PhD; Wendy J. Ungar, MSc, PhD; Gregory Costain, MD, PhD, FRCPC; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC; Robin Z. Hayeems, ScM, PhD; Martin J. Somerville, MSc, PhD; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Taila Hartley, PhD, MSc, MSc, CCGC
(P573) Genome-wide short tandem repeat expansion screening using optical genome mapping
Wednesday, 4:00 pm - 11:59 pm
James Yu, PhD; Mike Gallegher, PhD; Shuk Shukor, B.Sc; Alex Hastie, PhD; Alka Chaubey, PhD, FACMG
(P156) Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation
Wednesday, 4:00 pm - 11:59 pm
Eric Ontiveros, PhD; Liana Protopsaltis, MS; Rebecca Baer, MPH; Matthew Bainbridge, PhD; Bryant Cao, MS; Yan Ding, PhD; Katarzyna (Kasia) Ellsworth, PhD; Laura Forero, MD; Erwin Frise, MS, PhD; Lucia LG. Guidugli, PhD; YongHyun Kwon, MS; Jennie Le, DHSc, MS, CGMBS; Scott Oltman, MS; Mallory Owen, MD; Erica Sanford Kobayashi, MD; Lucita Van Der Kraan, CGMBS, MB(ASCP); Meredith Wright, Ph.D.; Mark Yandell, PhD; Laura Jelliffe-Pawlowski, PhD; Gretchen Bandoli, PhD; Christina Chambers, PhD; Stephen F. Kingsmore, MB ChB BAO DSc FRCPath
(P566) Global Genetic Health Assessment Project, Let's Not Leave Anyone Behind.
Wednesday, 4:00 pm - 11:59 pm
Aya Abu-El-Haija, MD, FACMG; Stacey Cook, MD; Nathan Keegan, MS CHFP; Angela Peron, MD, PhD
(P395) Hallermann-Streiff syndrome – characteristic features and diagnostic overlap
Wednesday, 4:00 pm - 11:59 pm
Caroline Cavender, MSc candidate Medical Genetics- Genetic Counseling; Anne M. Slavotinek, MBBS, PhD, FACMG; Carrie Atzinger, MS, CGC
(P077) Have We Considered Mosaicism? A Nearly Missed Molecular Diagnosis of von Hippel-Lindau
Wednesday, 4:00 pm - 11:59 pm
Wai Park, DO; Elyssa Zukin, MS, CGC; Rachelle Manookian, MS, CGC; Kevin McDonnell, MD, Ph.D; Szabolcs Szelinger, PhD; Ali Zhumkhawala, MD; Stacy W. Gray, MD, AM
(P260) Healthcare Utilization in Pediatric Patients with Noonan Syndrome
Wednesday, 4:00 pm - 11:59 pm
Rebecca Reef, BS; Alyssa L. Rippert, MS CGC; Edward Cook, MD; Divya Nair, MB BS/MPH; Rebecca C. Ahrens-Nicklas, MD, PhD
(P056) Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)
Wednesday, 4:00 pm - 11:59 pm
Andrea L. Gropman, MD, FACMG; Kosar Khaksari, PhD; Wei-Liang Chen, MD, FACMG; Sharon Primeaux, MS; Adrian Avila, B.S., B.S.; Juan Pascual, MD, PhD
(P734) Hemoglobin S Coinheritance with Unusual Clinically Significant Beta Globin Variants
Wednesday, 4:00 pm - 11:59 pm
Tavanna Porter, MS; Kenneth Swanson, MT (ASCP); Michelle Savedra, MT (ASCP); James Hoyer, MD; Aruna Rangan, MBBS; Jennifer Herrick, MD; Jessica Szuberski, MLS (ASCP)
(P700) Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death
Wednesday, 4:00 pm - 11:59 pm
Eric Kao, PhD; Yishay Ben Moshe, MD, PhD; Nichole Owen, PhD, FACMG; Liesbeth Vossaert, PhD, FACMG; Elizabeth A. Mizerik, MS, CGC
(P745) High-fidelity Whole Genome Sequencing of FFPE Tumor-Derived Nucleic Acids stored at Ambient Temperature
Wednesday, 4:00 pm - 11:59 pm
Farnoosh Abbas-Aghababazadeh, PhD; Lee Organick, PhD; Michael Blas, BS; Benjamin Haibe-Kains, PhD; James Banal, PhD; Celeste Yu, MSc, CCRP, PMP; Heather E. Williams, PhD, MBA, MS, PgD, ErCLG; Philippe L. Bedard, MD, FRCPC
(P652) High-Yield Diagnostic Testing of FGF14 Repeat Expansion in Cerebellar Ataxia Across the North American Population
Wednesday, 4:00 pm - 11:59 pm
Megan E. Forrest, PhD; Megan Delfeld, BS; Alexander Gary, BS; April Franco, BS; Sanjukta Tawde, MS, CGC; Malia Triebold, MS, CGC; Widad Abou-Chaar, MD; Vikram Shakkottai, MD, PhD; Sharan Srinivasan, MD, PhD; Khalaf Bushara, MD; Bernard Brais, MDCM, PhD; David Pellerin, MD; Christopher Gomez, MD, PhD; Soma Das, PhD, FACMG
(P553) How do patients with hereditary cancer syndromes navigate the healthcare system? A qualitative comparative study across Canada.
Wednesday, 4:00 pm - 11:59 pm
Carly Butkowsky, HBSc; Jordan Sam, MHSc; Emma Reble, MSc; Marc Clausen, MA; Sepideh Rajeziesfahani, MSc; Brooklyn A. Sparkes, BA; Ridhi Gopalakrishnan, HBSc(IPR); Vernie Aguda, MSc; Melyssa Aronson, CGC; June C. Carroll, MD; Derrick Bishop, NA; Lesa Dawson, MD; Andrea Eisen, MD; Tracy Graham, CGC; Jane Green, PhD, OC ONL, Hon FCCMG, FCAHS; Chloe Mighton, MSc; Julee Pauling, NA; Claudia Pavao, NA; Petros Pechlivanoglou, PhD; Catriona Remocker, PhD(c), RCC; Sevtap Savas, PhD; Sophie Sun, MD; Teresa Tiano, NA; Angelina Tilley, NA; Kevin E. Thorpe, MMath; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Holly Etchegary, PhD; Yvonne Bombard, PhD
(P868) How Many Lost Diagnoses? Addressing Inequitable Access to Genomic Testing for Rare Diseases in Rural Populations
Wednesday, 4:00 pm - 11:59 pm
Ana S.A.Cohen, PhD, FACMG; Tricia N. Zion, MS,CGC; Riley Moore, BS; Emelia Boillat, BS; Bradley Belden, BS; Emily G. Farrow, PhD, CGC, DABMGG; Isabelle Thiffault, PhD, MsC, FABMGG; Courtney Berrios, MSc, ScM; Britton D. Zuccarelli, MD; Tomi Pastinen, MD, PhD; Cassandra M. Barrett, CGC, PhD
(P862) How to conduct equitable genetics research to include underserved populations: a systematic review of best practices.
Wednesday, 4:00 pm - 11:59 pm
Vernie Aguda, MSc, MS; Sonya Grewal, HBSc; Arielle Nsenga, N/A; Daena Hirjikaka, BSc; Saumeh Saeedi, BSc.; Emma Reble, MSc; Marc Clausen, MA; Charles Law, N/A; Francine Holness, N/A; Kristal John, N/A; Tracy Reece, N/A; Aaron Pollett, MD; Aisha Lofters, MD; Ambreen Sayani, MD; Andrea Eisen, MD; David Lightfoot, PhD; Harriet E. Feilotter, PhD; Jordan Lerner-Ellis, PhD; Melyssa Aronson, CGC; Nav Persaud, MD; Yvonne Bombard, PhD
(P184) Hypermobility Clinic: Innovative Workflow Supporting Patients and Provider Wellness
Wednesday, 4:00 pm - 11:59 pm
Kimberly A. Chapman, MD, PhD, FACMG; Spencer Vause, BS; Seth I. Berger, MD, PhD; Deepika S. Burkardt, DO; Jamie L. Fraser, MD, PhD, FACMG; Christina L. Grant, MD, PhD; KeriAnn Kuperman, PA; Amy Lewanda, MD; Darilyn Mahoney, MS GC; Gabrielle Pomorski, MS, CGC; Louisa Pyle, MD, PhD; Kenneth N. Rosenbaum, MD; Kiley Quintana, MD; Natasha Shur, MD; Debra S. Regier, MD, PhD, FACMG
(P494) Hypermobility EDS: succesful implementation of a referral screening program.
Wednesday, 4:00 pm - 11:59 pm
Jaime Vengoechea, MD; Stephanie B. Wechsler, MD, FACMG; Marjorie Leathers, RN, CPN
(P115) Identification of a Novel SDHB c.638T>G, p.M213R Likely Pathogenic Variant Accountable for Hereditary Paraganglioma-Pheochromocytoma Syndrome: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Yi Liu, MS; Mickey JM. Kuo, MD; Sara Talvacchio, BSN, RN; Alberta Derkyi, FNP-BC, NP-C; Naris Nilubol, MD, FACS; Kathleen A. Calzone, PhD, RN, AGN-BC, FAAN; Karel Pacak, MD, PhD, DSc; Mark Raffeld, MD
(P699) Identification of a novel pathogenic variant in SERPINH1 associated with a presentation of osteogenesis imperfecta: Case Study
Wednesday, 4:00 pm - 11:59 pm
Val Zvereff, MD, PhD, FACMG; Azza Abd El Moneim Attia, MD; Amal Al Tenaiji, MD; Sana Islam, MSc; Anushree Dileep, MSc; Shalini Behl, PhD
(P729) Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Christin D. Collins, PhD, FACMG; Fen Guo, PhD, FACMG, FCCMG; Ruby Liu, MS, PhD; Madhuri Hegde, PhD, FACMG; Yinghong Pan, PhD; Mary Colasanto, PhD
(P109) Identification of new fusion partners for ETV6 gene in hematologic malignancy by Next Generation Sequencing (NGS)
Wednesday, 4:00 pm - 11:59 pm
Sumayya SA. Aslam, MD; Nyein Nyein Htun, MD; Piyanuch Kongtim, MD, PhD; Kiran Naqvi, MD; Xiaohui Zhao, MD, PhD; Sherif Rezk, MD; Fabiola Quintero-Rivera, MD; Jefferson Chan, MD; Ying Zhang, MD; Deepa Jeyakumar, MD
(P078) Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer
Wednesday, 4:00 pm - 11:59 pm
Sami Ul Haq, MSc, MD(c); Gregory Downs, PhD; Luna Jia Zhan, MPH; Danielle Sacdalan, MD; Janice JN. Li, BSc; Vivek Philip, MSc, PhD; Raymond H. Kim, MD; Geoffrey Liu, MD, MSc; Scott V. Bratman, MD, PhD; Peter JB. Sabatini, PhD; Benjamin H. Lok, MD
(P607) Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy
Wednesday, 4:00 pm - 11:59 pm
Oleksandr Olifir, MSc; Claudia Moreau, MSc; Maxime G. Cadieux-Dion, PhD; Patrick Cossette, MD; Simon Girard, PhD; Berge A. Minassian, MD
(P723) Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations
Wednesday, 4:00 pm - 11:59 pm
Eric W. Miller, PhD; Catherine W. Rehder, PhD, FACMG; Stefan Rentas, PhD, FACMG; Sarah Rapisardo, PhD, FACMG; Kristen L. Deak, PhD, FACMG
(P610) Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Lucia LG. Guidugli, PhD; Monia Hammer, PhD; Bryant Cao, MS; Joseph J. Shen, MD; Daniel Rito, MD; Claire Botsford, MSc, CGC, CCGC; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS; Jerica Lenberg, MS, LCGC; Kristen Wigby, MD; Kelly Watkins, MS LCGC; Stephen F. Kingsmore, MB ChB BAO DSc FRCPath; Mari Tokita, MD
(P215) Impact of Electronic Health Record Clinical Decision Support on Adherence to Recommended Care in Patients with Hereditary Cancer Risk
Wednesday, 4:00 pm - 11:59 pm
Juliann M. Savatt, MS, CGC; Cara Z. Mccormick, MPH; Melissa A. Kelly, MS, CGC; Kristen D. Yu, MS; Adam H. Buchanan, MS, MPH, CGC
(P070) Impact of Genetic Test Result Recall on Adherence to Cancer Risk Management Recommendations
Wednesday, 4:00 pm - 11:59 pm
Karishma Prakash Bharwani, BS; Deborah P. Cragun, PhD, MS, LCGC; Anne Weidner, MPH; Tuya Pal, MD, FACMG
(P794) Impact of the COVID-19 Pandemic on Prenatal Genetic Screening Test Acceptance in Western North Carolina
Wednesday, 4:00 pm - 11:59 pm
Nafiah Enayet, MD; Carol Coulson, MD; Micha Belden, PhD; Shelley Galvin, MA; Diana Marquez, BA; James Hong, BS
(P488) Implementation strategies to improve access to genetic services in a low-resources setting: experience in Chile’s Valparaíso Region
Wednesday, 4:00 pm - 11:59 pm
Nicole Nakousi-Capurro, MD; Vicente Quiroz, MD; Carla Taramasco, PhD; Felipe Martinez, MD; David Araya, PhD; David Ruete, PhD; Javier Tognarelli, BSc
(P557) Implementing Genomics-Informed Risk Assessment for Common Complex Diseases – A Qualitative Case Study in an Academic Health System
Wednesday, 4:00 pm - 11:59 pm
Jingheng Chen, MPH; David Veenstra, PharmD, PhD; Gail P. Jarvik, MD, PhD, FACMG; David R. Crosslin, PhD; Sarah Knerr, PhD, MPH
(P076) Implementing Tumour-First Genetic Testing and Parent-of-Origin-Aware Genomic Analysis into the Diagnostic Pipeline for Hereditary Breast Cancer
Wednesday, 4:00 pm - 11:59 pm
Haojun Huang, PhD; Alexandra Fok, MSc, MGenCoun; Tracy Tucker, PhD, FCCMG; Stephen Yip, MD PhD; Zuzana Kos, MD; Colin Mar, MD, FRCPC; Sophie Sun, MD; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG
(P612) Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions: Simons Searchlight Research Registry
Wednesday, 4:00 pm - 11:59 pm
Michelle Kowanda, PhD, MsGC; Wendy K. Chung, MD, PhD, FACMG; Rebecca Sheedy Smith, LGC, MS; Jamie Lundy, GC, MS; Catherine Kentros, MSc, CGC; Elisheva Kleinman, MS, CGC; Lauren Kasparson Walsh, MS; Gerhard Schratt, PhD; Cora M. Taylor, PhD
(P558) Improving Patient Care for Recurrent Pregnancy Loss patients via a Multidisciplinary
Relationship between OBGYN and Northwell Labs Across Northwell Health
Wednesday, 4:00 pm - 11:59 pm
NINETTE Cohen, PhD, FACMG; Aya Haghamad, PharmD; Erika Dadabo, BSc; Timothy J. Rafael, MD; Dzhamala Gilmandyar, MD; Dwayne Breining, MD; Emelia Grant, MS, CGC; Samantha Estin, Ms; Katherine Stephens, MSc
(P780) Improving peripartum health is an unappreciated advantage of prenatal genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Jessica L. Giordano, MS, CGC; Josie S. Pervola, MS, LGC; Vaidehi Jobanputra, PhD, MS, FACMG; Ronald J. Wapner, MD; Atteeq U. Rehman, PhD, FACMG; Amanda Thomas-Wilson, PhD, MS, FACMG; Ashley L. Wilson, MS; Alexandra Tinfow, MS; Stephanie Galloway, MS, CGC; Saurav Guha, PhD, FACMG; Volkan Okur, MD; Hannah Perrin, PhD; Cecilia Esteves, MPH; Poppy Brace, MS; Caitlin Baptiste, MD; Sowmya Thirumalai Srinivasa, MSc; Shahid Khan, PhD; Bruce Elder, PhD; Endre Hegedus, PhD; Vanessa Felice, BS; Shruti Phadke, MS; Avinash Abhyankar, MD, PhD
(P484) Improving the Capacity of the Clinical Genetics Workforce through an Implementation Science Lens
Wednesday, 4:00 pm - 11:59 pm
Maren T. Scheuner, MD, MPH; Paloma Sales, PhD; Tanvir Hussain, MD; Regina Godbout, MD; Shweta Dhar, MD, MS, FACMG, FACP
(P487) Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital
Wednesday, 4:00 pm - 11:59 pm
Abbey A. Scott, MS, CGC; Megan C. Sikes, MS, CGC; Jennifer Hayek, MD; Ian A. Glass, MBChB, MD, FACMG; Margaret P. Adam, MD, MS, FACMG; Anita E. Beck, MD, PhD; Ghayda M. Mirzaa, MD; James T. Bennett, MD, PhD; Katrina M. Dipple, MD, PhD; Alexandra Keefe, MD, PhD; Tara L. Wenger, MD, PhD; Lukas D. Kruidenier, MS CGC
(P823) Insights and Strategies for Inclusive Adolescent and Young Adult Participation in Genetics Research
Wednesday, 4:00 pm - 11:59 pm
Tasha Wainstein, MSc, CCGC; Courtney Cook, MSc; Daniel Assamad, MHSc; Julia Heaton, MSc; Manraj Randhawa, MSc; David Yeung, BSc; Lauren Jennings, BSc; Robin Z. Hayeems, ScM, PhD; Harpreet Chhina, PhD; Anthony Cooper, FRCS, MBChB; GenCOUNSEL Study, N/A; Jehannine Austin, PhD FCAHS CGC; Alison M. Elliott, PhD, MS, CGC
(P009) Insights from Georgia: Evaluating the Outcomes of Pompe Disease Newborn Screening
Wednesday, 4:00 pm - 11:59 pm
rana Aljaberi, MD; angela wittenauer, MSN,FNP-C,RN; Allison Foley, MMSc, CGC; erin Kistenberg, MS; Kristen E. Murphey, MD
(P208) Insights into Diagnostic Yield and Novel Genetic Etiologies for Unilateral Polymicrogyria
Wednesday, 4:00 pm - 11:59 pm
Abbe Lai, MGC; Jennifer Neil, CGC; Lance Rodan, MD; Achkar Moufawad El Achkar, MD; Shyam Akula, PhD; Anthony J. Barkovich, MD; Allen Y. Chen, MD; Diane Shao, MD PhD; Kimberly Wiltrout, MD; Ganeshwaran H. Mochida, MD PhD; Heather Olson, MD; Edward Yang, MD PhD; Annapurna H. Poduri, MD, MPH; Christopher A. Walsh, MD, PhD
(P198) Insights into the Cardiac Phenotype in Kabuki Syndrome
Wednesday, 4:00 pm - 11:59 pm
Leen Khalife, MD; Natalie Formica, BS; Olaf A. Bodamer, MD, PhD, FACMG
(P526) Insurance Access to Genetic Testing: Experiences in the Midwest
Wednesday, 4:00 pm - 11:59 pm
April Hall, MSc, PhD, CGC; Jessica Scott Schwoerer, MD
(P690) Integration of Protein Stability and Structural Context Scores Improves Bioinformatics Predictions for BRCA1 and TP53 Gene Variants
Wednesday, 4:00 pm - 11:59 pm
Lobna Ramadane-Morchadi, PhD; Matthew J. Varga, PhD; Adam Chamberlin, PhD; Marcy E. Richardson, BS, PhD; Cristina Fortuno, PhD; Miguel de la Hoya, PhD; Amanda B. Spurdle, PhD; Nitsan Rotenberg, BS
(P195) Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia
Wednesday, 4:00 pm - 11:59 pm
Alexanne Cuillerier, PhD; Layla Mackay, BSc; Erika Wall, BSc; Giulia F. Del Gobbo, PhD; Luke Seldenthuis, BSc; Wendy Mears, PhD; Laura Larrigan, BSc; David Dyment, MD, PhD, FRCPC, FCCMG; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Alexandre White-Brown, BSc
(P002) Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes
Wednesday, 4:00 pm - 11:59 pm
Emily Groopman, MD, PhD, National Human Genome Research Institute, National Institute, Washington, DC, United States
(P318) Ironing out the BPAN phenotypic spectrum: a report of three new BPAN cases and review of the literature
Wednesday, 4:00 pm - 11:59 pm
Caitlin M. Goedhart, MD; Shuaa Basalom, MD; Stephanie Skinner, MD; Caroline Brost, NP
(P617) Is it time to switch to AlphaMissense for in-silico missense predictions?
Wednesday, 4:00 pm - 11:59 pm
Shruthi Mohan, PhD; Justyne Ross, PhD; Jennifer Goldstein, PhD, CGC
(P340) Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent.
Wednesday, 4:00 pm - 11:59 pm
Gabriella Perry, BS; Jessica Merberg, MS, CGC; Luis Gomez, MD; Ankit Shah, MD; Natalie S. Hauser, MD
(P666) Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome
Wednesday, 4:00 pm - 11:59 pm
Anahita AM. Mohseni Meybodi, PhD; Victoria Siu, MD, FRCPC, FCCMG; Bekim Sadikovic, PhD; Haley McConkey, MSc
(P389) Kagami-Ogata Syndrome: The Indispensable Role of Clinical Assessment and Utilization of Advanced Molecular Technologies
Wednesday, 4:00 pm - 11:59 pm
Nathaniel R. Jensen, MD, PhD; Scott Saunders, MD, PhD; Tsutomu Ogata, MD, PhD; Ryan Longman, MD; Masayo Kagami, MD, PhD; Maria Laura Duque Lasio, MD, FACMG; Marwan Shinawi, MD
(P639) Large-Scale Genome Reanalysis of 159 Individuals Affected by Undiagnosed Genetic Diseases from the Stanford Center for Undiagnosed Diseases.
Wednesday, 4:00 pm - 11:59 pm
Hector Mendez, MD; Devon Bonner, ScM, LCGC; Chloe Reuter, MS, CGC; Jennefer Kohler, ScM, CGC; Shruti Marwaha, PhD; Laurens van de Wiel, PhD; Elijah Kravets, BS; Charlotte Ostrow, BA; Raquel L. Alvarez, BS; Sara Emami, BS; MEGHAN C. HALLEY, MPH, PhD; Holly K. Tabor, PhD; Suha Bachir, MD, MS, FACMG; Jonathan A. Bernstein, MD, PhD; Matthew T. Wheeler, MD PhD
(P383) Leptomeningeal Cavernomatosis and Non-Hemorrhagic Lacunar Strokes: An unusual phenotype for familial cerebral cavernous malformations
Wednesday, 4:00 pm - 11:59 pm
Anusha Ebrahim, BA; Zoe Wolfenson, BS; Orpa Jean-Marie, RN; Colleen Wahl, DNP, FNP-BC; Gilbert Vezina, MD; William A. Gahl, MD, Ph.D; Camilo Toro, MD
(P296) Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of Aromatic L-Amino Acid Decarboxylase Deficiency
Wednesday, 4:00 pm - 11:59 pm
Megan M. Shuey, PhD, MS; Erica Nelson, MD; Lucas Richter, MGC, MM; Theodore Morley, BA; Lisa Bastarache, MA; Douglas Ruderfer, PhD
(P894) Limitations in access to genetic counseling training programs across the globe
Wednesday, 4:00 pm - 11:59 pm
Tara L. Wenger, MD, PhD; Sophia R. Meyer, State Approved Educator; Camila Gabriel, MS; Abbey A. Scott, MS, CGC
(P635) Long Read Sequencing for the Analysis of Repeat Expansion Disorders
Wednesday, 4:00 pm - 11:59 pm
April S. Berlyoung, PhD; Jessica Noya, MS; Aaron Johnson, MS; Julianna Spangler, MS; Rhonda Brandon, MS; Kathleen S. Hruska, PhD, FACMG; Lucas Lochovsky, PhD; Jason Chin, PhD; Gustavo Stolovitzky, PhD; Scott Newman, PhD; Joseph M. Devaney, PhD
(P506) Long-Term Results and Challenges of Newborn Screening for Classic Homocystinuria in New York State
Wednesday, 4:00 pm - 11:59 pm
Jing Xiao, PhD; Sarah Bradley, MS; Christopher Johnson, BA; Carlos Saavedra-Matiz, MD; Tara Whispell, MS; Joseph J. Orsini, PhD; Michele Caggana, ScD, FACMG
(P178) Longitudinal Neurodevelopmental and Medical Outcomes in Patients with Molecularly Confirmed RASopathies
Wednesday, 4:00 pm - 11:59 pm
Alyssa L. Rippert, MS CGC; Divya Nair, MB BS/MPH; Edward Cook, MD; Rebecca Reef, BS; Rebecca C. Ahrens-Nicklas, MD, PhD
(P342) Loss of Function Variants in ACTN2 in Pediatric Patients with Infantile-Onset Dilated Cardiomyopathy
Wednesday, 4:00 pm - 11:59 pm
Laura Zahavich, M.Sc., CGC; Samantha Macpherson, MHSc; Aamir Jeewa, MD; Rebekah K. Jobling, MD
(P615) Low rate of clinical follow-up for potential germline variants identified in hematologic malignancies with a next generation sequencing panel
Wednesday, 4:00 pm - 11:59 pm
Hannah Wollenzien, PhD; Thomas Olson, PhD; Kelly Rafferty, PhD, MS; Scott A. Turner, PhD; Andrea Ferreira-Gonzalez, PhD; Elizabeth S. Barrie, PhD
(P636) Lp(a) genetic risk screening using genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Samuel Strom, Samuel Strom, PhD, FACMG; Laura Amendola, MS, CGC; Aditi Chawla, PhD; Vitor Onucic, PhD; Denise L. Perry, MS; Akanchha Kesari, PhD, FACMG; Ryan J. Taft, PhD
(P525) Medical Genetics Providers Require Training and Institutional Support to Integrate Pharmacogenomic Testing
Wednesday, 4:00 pm - 11:59 pm
John Imbrie, DO; Christina G. Tise, MD, PhD; Kendall Schmidt, MS; Hetanshi Naik, PhD, MS, CGC; Stuart A. Scott, PhD, FACMG
(P508) Medically-Actionable Disease Risk Variants in a Diverse Population
Wednesday, 4:00 pm - 11:59 pm
Whitley V. Kelley, MS, CGC; Irene Moss, MA; Irfan Asif, MD; Gregory M. Cooper, PhD; Candice R. Finnila, PhD; Susan M. Hiatt, PhD; Donald R. Latner, PhD; James Lawlor, MS; Kelly M. East, MS, CGC; Thomas May, PhD; Mariko Nakano-Okuno, PhD; Stephen Sodeke, PhD; Gregory S. Barsh, MD, PhD; Nita Limdi, PharmD, PhD; Matthew Might, PhD; Bruce R. Korf, MD, PhD
(P166) MEK Inhibitor Therapy for Lymphatic Malformations: A Focused Approach in Patients with RASopathies
Wednesday, 4:00 pm - 11:59 pm
Vanina L. Taliercio, MD; Pavalan Selvam, MD; Gulsen Akay, MD; Stacey L. Cole, MD, MBA; Josue A. Flores-Daboub, MD; David H. Viskochil, MD, PhD
(P561) Mental Health in Fabry Disease: Results from a North American Survey of 401 Participants
Wednesday, 4:00 pm - 11:59 pm
Dawn A. Laney, MS, CGC; Nadia Ali, PhD; Kendra J. Bjoraker, Ph.D., L.P.; Andrés Treviño, Patient Advocate
(P035) Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1
Wednesday, 4:00 pm - 11:59 pm
Jeffrey T. Ehmsen, MD, PhD; Nadav I. Weinstock, MD, PhD; Shira G. Ziegler, MD, PhD; Tao Wang, MD, PhD; Hilary J. Vernon, MD, PhD; Jacquelyn F. Britton, MGC, CGC
(P785) Milroy Disease Presenting as Hydrops Fetalis: A Case Series
Wednesday, 4:00 pm - 11:59 pm
Haley M. Crane, MS, LCGC; Julie Moldenhauer, MD, FACOG, FACMG; Nahla Khalek, MD, MPH, FACOG, MSEd; Juliana Gebb, MD; Christina Paidas Teefey, MD; Erica Schindewolf, MS, LCGC; Natalie Burrill, MS, LCGC; Lisa Pilchman, MS, LCGC; Renee Wright, MS, LCGC; Alexandra J. Borst, MD; Michael Fox, MD, MEd; Beverly Coleman, MD, FACR; Shelly Soni, MD
(P212) Modifiers of Arterial Stenosis in Williams Syndrome: Using Genomics to Discover Drivers of Vessel-Specific Outcomes
Wednesday, 4:00 pm - 11:59 pm
Ashley L. Golbus, BS; Delong Liu, PhD; Mark D. Levin, MD; Neelam Raja, NP; Elisa Biamino, MD, PhD; Maria F. Bedeschi, MD; Maria C. Digilio, MD; Gabriella M. Squeo, MS; Roberta Villa, MD; Sharon Osgood, MS, RN; Giuseppe Merla, PhD; Barbara R. Pober, MD; Carolyn B. Mervis, PhD; Amy E. Roberts, MD; Colleen A. Morris, MD; Lucy R. Osborne, PhD; Joy Lynne A. Freeman, RN, BSN; Beth A. Kozel, MD, PhD, FACMG
(P228) MOLECULAR and CLINICAL ANALYSES of LRP1 and LRP2 VARIANTS in HUMAN CONGENITAL CARDIAC LEFT-SIDED LESIONS
Wednesday, 4:00 pm - 11:59 pm
Xin Chen, PhD; Qiliang Ding, PhD; Roozbeh Manshaei, PhD; Marci LB. Schwartz, MS, CGC; Olivia M. Moran, MSc, MSc; Kaitlin Stanley, MSc candidate; Raymond H. Kim, MD, PhD, FRCPC, FCCMG, FACMG; Rebekah K. Jobling, MD
(P094) Molecular genetic biomarker analysis in brain tumors: Clinical and histopathological correlation of brain tumors with deletion of CDKN2A (9p21)
Wednesday, 4:00 pm - 11:59 pm
Shivakumar Subramaniyam, Ph.D, FACMG; Katherine Weng, MD, PhD; Gerasimos Karalis, MD; Mansoor Nasim, MD; Matija Snuderl, MD
(P276) Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome.
Wednesday, 4:00 pm - 11:59 pm
SOFIA CATENA, MD; Joanna Gonzalez, MS; Krisna Maddy, MS4; Mathew Rodier, MD; Nicholas Borja, MD,
(P364) Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype
Wednesday, 4:00 pm - 11:59 pm
Arthur L. Lenahan, III, MD, MPH; Ian A. Glass, MBChB, MD, FACMG; Andrew B. Stergachis, MD, PhD, FACMG; Cate R. Paschal, PhD, FACMG; Elizabeth Blue, PhD; Aimee Allworth, MS, LCGC; Ingrid Cristian, MD; Danny E. Miller, MD, PhD; Jennifer Morrison, MS, CGC
(P239) Mosaic Trisomy 17 and Tetraploidy: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Zach Ryder, MS; Daniel Groepper, LGC; Julie Fleischer, MD; Fiyinfoluwa Soluade, MD; Henry Adekola, MD; Morgan Schriever, MD
(P653) Mosaic X-Ring Chromosomes (45,X/46,X,r(X)) In Turner Syndrome (TS): A Case Series Highlighting 42 Years of Experience in a Single-Institution
Wednesday, 4:00 pm - 11:59 pm
Anita M. Madison, MD, MPH; Jaclyn Murry, PhD, FACMG; Carolyn Applegate, M.G.C.; Chantal Cross, M.D.; Kamaria Cayton Vaught, M.D.; Victoria Stinnet, B.Sc., CG(ASCP)
(P854) Motivations for Cascade Genetic Testing and Reactions to Results for Select Adult-Onset Conditions in a Pediatric Genomic Results Study
Wednesday, 4:00 pm - 11:59 pm
Alyson E. Evans, MS, CGC; Muki Kunnmann, BS; Tracey Leitzel, BS; Dana Gadaire, PsyD; Sean O'Dell, PhD; Adam H. Buchanan, MS, MPH, CGC
(P256) MUCOLIPIDOSIS TYPE II: DATA FROM NORTHERN REFERAL PEDIATRIC CENTER IN VIETNAM
Wednesday, 4:00 pm - 11:59 pm
Ngoc TB. Can, Dr, MD, PhD; Dung C. Vu, MD, PhD; Khanh N. Nguyen, MD. PhD; Thao P. Bui, MD. PhD
(P365) Muenke Syndrome Associated with Juvenile Polyposis Syndrome
Wednesday, 4:00 pm - 11:59 pm
Milena Fraustro, MD; Anais Iglesias, Medical Student; Mislen Bauer, MD; Ana Maria Rodriguez Barreto, MD
(P630) Multi-Modal Testing, Including Long-Read Sequencing, to Elucidate an Unsolved Case of Dyskeratosis Congenita
Wednesday, 4:00 pm - 11:59 pm
Ankita Jhuraney, MS, PhD; Sarah A. Paolucci, MS, CGC; Sophia Gibson, BS; Nikhita Damaraju, MS; Danny E. Miller, MD, PhD; Jennifer Hayek, MD; Bri Dingmann, MS, CGC; Jillian Buchan, PhD, FACMG
(P406) Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder.
Wednesday, 4:00 pm - 11:59 pm
Tasuku Mariya, MD.PhD.; Aki Ishikawa, MD.PhD.; Miyako Mizukami, MD.; Aika Korai, MD.; Tsuyoshi Baba, MD.PhD; Shinichi Ishioka, MD.PhD.; Tsuyoshi Saito, MD.PhD.; Akihiro Sakurai, MD.PhD.; Sachiko Miyazaki, MS.; Yumi Tanaka, MS.; Kayano Komatsu, MS.
(P014) Multiple Cases of Mosaic X-Linked Adrenoleukodystrophy in Males Identified Through Newborn Screening.
Wednesday, 4:00 pm - 11:59 pm
Alexandra Keefe, MD, PhD; Dana Jensen, BS; Renee C. Bend, PhD; Michelle Morrow, MS, PhD; Paul Kruszka, MD; Lauren O'Grady, MS, CGC; Florian Eichler, MD; Angela Sun, MD; James T. Bennett, MD, PhD
(P812) Multiple Fetal Anomalies Suggest a Role for CDK20 in Human Ciliopathies
Wednesday, 4:00 pm - 11:59 pm
Karen Chong, MD,PhD; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS; Greg Ryan, MD; Rory Windrim, MD; Patrick Shannon, MD, FRCPC; William Parkes, MD; Claire Botsford, MSc; Tami Uster, M.Sc
(P108) Myelodysplastic Syndrome (MDS) Detected by Germline Genetic Testing for Hereditary Cancer
Wednesday, 4:00 pm - 11:59 pm
Larissa Peck, MSc; Raymond H. Kim, MD/PhD; Sarah Ridd, BASc; Janet Malcolmson, MS, CGC
(P650) Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older?
Wednesday, 4:00 pm - 11:59 pm
Zoe Powis, MS; Khalida Liaquat, CGC, LGC, MSGC; Marc Meservey, BS; Judy Z. Louie, MS; Sat Dev Batish, Ph.D., FACMGG, FAAN
(P822) Navigating genetic risk: Mapping variant’s probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms
Wednesday, 4:00 pm - 11:59 pm
Jade England, MD, MSc, FRCPC; Guillaume Huguet, PhD; Khadijé Jizi, MSc Genetic Counselling; Cécile Poulain, MSc, PhD Student; Élise Douard, PhD; Zohra Saci, PhD; Catalina Maftei, MD, FCCMG; Emmanuelle Lemyre, MD; Sébastien Jacquemont, MD
(P485) Navigating the Genetic Odyssey: Enhancing Early Recognition and Referral for Precise Diagnosis Through Human Phenotype Analysis
Wednesday, 4:00 pm - 11:59 pm
Matheus Wilke, MD. Ph.D.; Yao Xiao, Ph.D.; Gavin M. M. Schaeferle, .; Brendan Lanpher, MD; Eric W. Klee, PhD; Che Ngufor, Ph.D.; Moein Enayati, Ph.D.
(P466) Neurodevelopmental Diagnoses in Oculocutaneous Albinism Type II
Wednesday, 4:00 pm - 11:59 pm
Rebecca Procopio, MS, CGC; Adele S. Schneider, MD, FACMG; Amy Xi, BS
(P134) Neuronal Pathways by Differential Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for Neurodegenerative Diseases
Wednesday, 4:00 pm - 11:59 pm
Maria T. Acosta, MD; Connor J. Lewis, BS; Zeynep Vardar, MD, MD; Anna L. Kuhn, PhD; Jean M. Johnston, RN, MS; Precilla D'Souza, PNP, DNP; Mohamed S. Shazeeb, PhD; Cynthia J. Tifft, MD, PhD
(P671) New Artificial Intelligence-based computer-aided chromosome analysis and karyotyping - a pilot evaluation
Wednesday, 4:00 pm - 11:59 pm
Yael Glickman, PhD; Agshin F. Taghiyev, PhD, FACMGG; Julie Best, CG (ASCP), MB (ASCP); Lynne S. Rosenblum, PhD, FACMG; Kenneth A. Greer, BS; Ryan K. Olson, MD; Jacob Diaz, MHA, MLS (ASCP); Mohammad Kasom, MSc; Cristina Steele, MBA, CG (ASCP)
(P507) Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights
Wednesday, 4:00 pm - 11:59 pm
Hadley S. Smith, PhD, MPSA; Madison R. Hickingbotham, MS; Sarah R. Stein, PhD; Ellen Kim DeLuca, PhD, MPH; Niki Armstrong, MS, CGC; Partha Ghosh, MD; Jennifer Yeh, PhD; Kurt D. Christensen, PhD; Ann C. Wu, MD, MPH
(P861) Newborn Screening for Pompe Disease in South Florida: The Clinical Experience
Wednesday, 4:00 pm - 11:59 pm
William McGonigle, BS; Paulo Borjas-Mendoza, MD; Sofia Zoullas, AB; Rosa G. Rivera, RN; Deborah S. Barbouth, M.D.
(P569) NextGen Training of Medical Professionals for Evolving Genomic Interventions
Wednesday, 4:00 pm - 11:59 pm
Margarita Saenz, Margarita Saenz; Kaitlin Angione, CGC; Megan Abbott, MD; Scott Demarest, MD, MSCS
(P229) Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter
Wednesday, 4:00 pm - 11:59 pm
Elliott Swanson, PhC; Helmut Grasberger, PhD; Alexandra Dumitrescu, MD, PhD; Xiao-Hui Liao, BS; Roy E. Weiss, MD, PhD; Panudda Srichomkwun, PhD; Theodora Pappa, MD, PhD; Junfeng Cheng, PhD; Takashi Yoshimura, PhD; Phillip Hoffmann, MS; Monica Malheiros França, MSc, PhD; Rebecca Tagett, MS; Kazumichi Onigata, PhD; Sabine Costagliola, PhD; Jane Ranchalis, BS; Shane Neph, PhD; Mitchell R. Vollger, PhD; Jessica X. Chong, PhD; Michael J. Bamshad, MD; Guillaume Smits, MD, PhD; Gilbert Vassart, MD; Samuel Refetoff, MD; Andrew B. Stergachis, MD, PhD, FACMG
(P800) Non-mosaic Trisomy 9 – prenatal and fetal autopsy findings with further delineation of the clinical phenotype
Wednesday, 4:00 pm - 11:59 pm
Abdallah F. Elias, MD; Michael Gordon, MD; Bradley D. Holbrook, MD; Olivia M. Maher, MS, CGC; Tabitha Poorvu, MS LCGC; Tammy Schwalbe, CG(ASCP); Maija Trout, MS, LCGC; Monica H. Wojcik, MD; Amy Zearfoss, CG(ASCP)
(P388) Noonan Syndrome Associated with a Homozygous Deep Intronic Variant in LZTR1 Gene Confirmed by RNA Sequencing
Wednesday, 4:00 pm - 11:59 pm
Lucie Dupuis, MSc, MS; Anna Szuto, MSc; Christian R. Marshall, PhD, FACMG, FCCMG; Lianna Kyriakopoulou, PhD, FCACB, DABMG, FACMG; Roberto Mendoza-Londono, Dr., MD, MS/FCCMG, FRCPC; Vanda McNiven, MD, MSc, FRCPC
(P787) Not Through with 22q: Case series of false negative cfDNA results and the importance of a priori risk on NPV
Wednesday, 4:00 pm - 11:59 pm
Anita M. Madison, MD, MPH; Kristen A. Miller, MGC, CGC; Cathleen Lawson, MS; Christine Hertenstein, MGC
(P738) Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey
Wednesday, 4:00 pm - 11:59 pm
Ourania Parra, MD; Edward G. Hughes, PhD; Stephanie E. Vallee, MS, LGC; Mary Beth P. Dinulos, MD, FACMG; Wahab A. Khan, PhD, FACMG; Dana L. Wright, MS
(P433) Novel and Very Rare Causative Variants in the Transglutaminase-1 Gene of Vietnamese Patients with Lamellar Ichthyosis
Wednesday, 4:00 pm - 11:59 pm
Luong Thi Lan Anh, MD, PhD; Nguyen P. Mai, MD; Nguyen H. Sau, MD, PhD; Doan T. Kim Phuong, MD, PhD
(P272) Novel biallelic missense variants in C2orf69 cause Combined Oxidative Phosphorylation Deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation
Wednesday, 4:00 pm - 11:59 pm
Youjin Oh, MD; Grace Yoon, MD; Michael Maier, PhD; Bruno Reversade, PhD; Jessie Cameron, PhD; Susan Blaser, MD; Cynthia Hawkins, MD, PhD
(P693) Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates
Wednesday, 4:00 pm - 11:59 pm
Chen Yang, MD, PhD; Ayesha Ahmad, MD; Adelyn Beil, MS, MPH, CGC; Nicole Ducharme, BS; Alyssa Kubisak, BS; Raja Rabah, MD
(P120) Novel genomic rearrangement leading to MYC over expression in the genomic setting of a pseudo-triple-hit diffuse large B-cell lymphoma
Wednesday, 4:00 pm - 11:59 pm
Ramakrishna P. Koduru, PhD, MHA; Carter P. Wright, PhD; Mingyi P. Chen, MD; Weina Chen, MD, PhD; Rolando Garcia, PhD; Kathleen P. Wilson, MD; Jeffrey Gagan, MD, PhD
(P789) Novel Markers of Pyruvate Dehydrogenase Complex Deficiency on Fetal Brain MRI
Wednesday, 4:00 pm - 11:59 pm
Olivier Fortin, MD; Jamie L. Fraser, MD, PhD, FACMG; Anne Lawrence, CGC; Kate Cilli, CGC; Kelsey Christoffel, MD; Jason Schroeder, MD; Abdullah Shoaib, MD; Charu Venkatesan, MD, PhD; Rebecca D. Ganetzky, MD, FACMG; Cesar Alves, MD
(P368) Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association
Wednesday, 4:00 pm - 11:59 pm
Giulliana Chávez-Pasco, MD; Jeny Bazalar-Montoya, MD; Cecilia Bonilla Suarez, MD; Krista Bluske, PhD; Samuel Strom, PhD, FACMG; Alka Malhotra, PhD; Becky Milewski, MS; Erin Thorpe, MS, CGC; Ryan J. Taft, PhD; Gioconda Manassero-Morales, MD
(P313) Novel Presentation of Costello Syndrome With Urinary Tract Involvement In Early Infancy.
Wednesday, 4:00 pm - 11:59 pm
Aniah I. McLeod, MS; Robert Roger Lebel, MD, FACMG; Frank C. Smith, MD; Jeffrey A. Villanueva, MD; Jennifer Black, MS, CGC; Rachael Sampson, MD
(P701) Novel Presentation of Dextrocardia in TGIF1-related Holoprosencephaly
Wednesday, 4:00 pm - 11:59 pm
Casey A. Thornton, PhD; Nichole Owen, PhD, FACMG; Elizabeth A. Mizerik, MS, CGC; Chelsi Rose, DO; Seema Lalani, MD; Emily Waskow, DO; Keren Machol, MD, PhD
(P444) Novel RET Variant in Two Unrelated Patients with Hirschsprung disease and Congenital Anomalies of Kidney and Urinary Tract
Wednesday, 4:00 pm - 11:59 pm
Ozlem Turedi, MD; Jessica Tenney, MD, FACMG; Jacquelyn F. Britton, MGC, CGC; Lauren N. Meiss, MD; Sonja A. Rasmussen, MD, MS, FACMG; Erica Winnicki, MD; Vivien Nguyen, MD; Dane Witmer, Ph.D., M.S.; Molly B. Sheridan, PhD
(P848) Novel Structural Variant in PDGFB-associated with Ectopic Intracerebral Calcifications
Wednesday, 4:00 pm - 11:59 pm
David D'Onofrio, BS; Andrea Cohen, MD, PhD; Meredith Gillis, BS; Seth I. Berger, MD, PhD; May Christine V. Malicdan, M.D PhD; William A. Gahl, MD, Ph.D; David R. Adams, MD, PhD; Camilo Toro, MD; Thomas Cassini, MD
(P315) Novel Variants in the CACNA1B Gene: A Case Presentation of Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Wednesday, 4:00 pm - 11:59 pm
Zoe Wolfenson, BS; Precilla D'Souza, PNP, DNP; Marla Sabaii, RN BSN; Inna Hughes, MD, PhD; David R. Adams, MD, PhD; Adam Hartman, MD; Ellen Macnamara, MSGC
(P324) Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
Wednesday, 4:00 pm - 11:59 pm
Noemie Villeneuve-Cloutier, MD; Christie Boswell-Patterson, MSc; Josée Martineau, OD; Andrea C. Yu, MD; Gail E. Graham, MSc, MD, FRCPC, FCCMG; Julie Richer, MD; Krista M. Vincent, MD/PhD
(P191) Old School and New Findings: Expansion and Delineation of the Dysmorphological Phenotype of Fanconi anemia
Wednesday, 4:00 pm - 11:59 pm
Moises O. Fiesco-Roa, MD, MSc, PhD(c); Andrea Venegas-Andrade, MD; María del Mar Sáez de Ocariz Gutiérrez, MD, MSc; Sonia Toussaint-Caire, MD; Armando Hernández Rodas, MD; Gilberto Gómez Garza, MD; Magdalena Ortiz Sandoval, MD; Elia Ixel Apodaca Chávez, MD; Leda Torres, PhD; Pedro Reyes, PhD(c); Ulises Juárez, MSc, PhD(c); Angélica Solis, MSc; Bertha Molina, MSc, PhD(c); Alfredo Rodríguez, PhD; Sara Frías, PhD; Benilde García-de Teresa, MD, PhD(c)
(P245) Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations
Wednesday, 4:00 pm - 11:59 pm
Dmitriy Niyazov, Dmitriy Niyazov; Jane Juusola, PhD, FACMG
(P608) Optical genome mapping for genome-wide structural variation analysis in hematologic malignancies: prospective study to determine impact on diagnosis and management
Wednesday, 4:00 pm - 11:59 pm
Trilochan Sahoo, MD; Stephen J. Wicks, PhD, FACMG; Jen Hauenstein, MS; Anusha Mylavarapu, MS; Beth Matthews, MS; Jenna Finley, MS; Meena Naik, MD; Marissa Younan, MS; Karine Hovanes, PhD; Sachin Jadhav, MD
(P772) Optimal Amniotic Fluid Volume Required for Direct Chromosomal Microarray Analysis.
Wednesday, 4:00 pm - 11:59 pm
Lina M. Ibrahim, MBBS; Elizabeth McCready, PhD; Stephanie HM. Winsor, MD, FRCSC
(P500) Optimizing Consent: An Analysis of Recruitment Data for the First 11,000 Consented ScreenPlus Parents
Wednesday, 4:00 pm - 11:59 pm
Nicole R. Kelly, MPH; Katrina Paleologos, MPH; Megan J. Clarke, MS; Melissa P. Wasserstein, MD
(P618) Optimizing Diagnostic Potential: Impact of Familial Sample Configurations on Exome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Meghan C. Towne, MS, CGC, LGC; Melissa Holman, MS, CGC; Andrew Giles, MS, CGC; Ginger J. Tsai, MS; Brooklynn Gasser, MS; Brian Schoenfeld, MS, LCGC
(P356) Overlapping Movement Disorder Phenotypes are a Hallmark of Leukoencephalopathy with Calcifications and Cysts
Wednesday, 4:00 pm - 11:59 pm
Jamie L. Fraser, Jamie L Fraser; Laura L. Tochen, MD; Jason W. Schroeder, MD; Jennifer L. Harmon, MD, PhD
(P145) Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes.
Wednesday, 4:00 pm - 11:59 pm
Moon Ley Tung, MBBS, MRCP (UK), FRCPath (Hematology)(UK), FACMG; Bharatendu Chandra, MD; Jaime Nagy, PhD; Hatem I. El-Shanti, MD; John A. Bernat, MD, PhD; Nicole Safina, MD,FAAP, FACMG; Amy Calhoun, MD; Georgianne Younger, MS; Kyle Dillahunt, MS; Anna Paulson, MSGC, LGC; Taylor Warner, MS; Hannah Bombei, MSGC; Jaclyn Kotlarek, MS
(P480) Parent and healthcare personnel perspectives on challenges to family-centred care for children with inherited metabolic diseases: a qualitative analysis
Wednesday, 4:00 pm - 11:59 pm
Andrea J. Chow, MSc; Guylaine D'Amours, MDCM, MSc; Isabel Jordan, n/a; Nicole Pallone, n/a; Maureen Smith, MEd; Pranesh Chakraborty, MD, FRCPC, FCCMG; Zobaida Al-Baldawi, Msc; Julie Paradis, MPH; Jamie Brehaut, PhD; Alicia Chan, MD, FRCPC, FCCMG; Eyal Cohen, MD; Sarah Dyack, MD; Jane Gillis, MS, MD; Sharan Goobie, MD; Ian D. Graham, PhD; Cheryl Rockman-Greenberg, MD, CM; Jeremy Grimshaw, PhD; Robin Z. Hayeems, ScM, PhD; Michal Inbar-Feigenberg, MD; Shailly Jain-Ghai, MD, FRCPC, FCCMG; Sara Khangura, MSc; Jennifer MacKenzie, MD; Nathalie Major, MD; John J. Mitchell, MD; Stuart Nicholls, PhD; Amy Pender, RD, MSc; Murray Potter, MD; Chitra Prasad, MD; Natalya Karp, MD; Andreas Schulze, MD, PhD, FRCPC; Komudi Siriwardena, MD; Kathy N. Speechley, PhD; Sylvia Stockler, MD; Yannis Trakadis, MD; Clara van Karnebeek, MD; Jagdeep Walia, MBBS, FRCPC, FCCMG; Kumanan Wilson, PhD; Brenda Wilson, PhD; Andrea C. Yu, MD; Beth K. Potter, PhD
(P874) Parental Perspectives and Experiences on the Implications of Expanded and Universal Newborn Screening
Wednesday, 4:00 pm - 11:59 pm
Katrina Paleologos, MPH; Nicole R. Kelly, MPH; Megan J. Clarke, MS; Aaron Goldenberg, PhD MPH; Melissa P. Wasserstein, MD
(P703) Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly
Wednesday, 4:00 pm - 11:59 pm
Nichole Owen, PhD, FACMG; Liesbeth Vossaert, PhD, FACMG; Lorraine Potocki, MD; Elizabeth A. Mizerik, MS
(P517) Patient and Clinician Perspectives on a Digital Health Platform for the Longitudinal Management of Genetic Cancer Predisposition
Wednesday, 4:00 pm - 11:59 pm
Huma Q. Rana, MD, MPH; Tara Schmidlen, MS; Lauren Fisher, MPH; Andrew Khalaj, BS; Evan Goler, BS; Catherine Pellegrini, BS; Emilie Simmons, MS; Moran Snir, MS, MBA; Jennifer W. Mack, MD
(P600) pb-StarPhase: A Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data
Wednesday, 4:00 pm - 11:59 pm
James M. Holt, PhD; John R. Harting, MS; Nina Gonzaludo, PhD; Zev Kronenberg, PhD; Christopher T. Saunders, PhD; Michael A. Eberle, PhD
(P489) Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data
Wednesday, 4:00 pm - 11:59 pm
Hadley S. Smith, PhD, MPSA; Madison R. Hickingbotham, MS; Dawn Cardeiro, MS; Matthew Lakoma, MPH; Ann C. Wu, MD, MPH; Christine Y. Lu, PhD
(P012) Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria: Latest Findings from the COMPOSE® Phase 1/2 Trial
Wednesday, 4:00 pm - 11:59 pm
Can Ficicioglu, MD, PhD; Jaya Ganesh, MD, FACMG; Wendy E. Smith, MD; Melissa D. Lah, MD; David Kudrow, PhD; Sharon McDermott, PhD; Sagar A. Vaidya, MD PhD; Liz Wilkening, BSc; Janet A. Thomas, MD, FACMG; Harvey Levy, MD; Jalé Guner, PhD
(P856) Perceptions of Family Health History in an East Baltimore Community
Wednesday, 4:00 pm - 11:59 pm
Yasheel Pandya, BS, BA; Angela Zhu, BS; Ethan Mondell, BS; Nathnael Woldehana, MD; Sophia Choi, BS; Gina Kim, BS; Valentina Vanos, BS; Barbara Bates-Hopkins, BS; Panagis Galiatsatos, MD, MHS; Joann Bodurtha, MPH, MD, FACMG, FAAP
(P655) Performing long-read sequencing from dried blood spot cards
Wednesday, 4:00 pm - 11:59 pm
Miranda Galey, MS; Cate R. Paschal, PhD, FACMG; Anna I. Scott, PhD, FACMG; Alexandra Keefe, MD, PhD; Danny E. Miller, MD, PhD; Sydney Ward, BS; Joy Goffena, MS; Sophie Storz, BS
(P688) Performing NGS Testing for Myeloid Malignancies in an Academic Medical Center Improves Turnaround Time and Cost
Wednesday, 4:00 pm - 11:59 pm
Christopher Giauque, PhD, ABB(HCLD); Giovanni Insuasti-Beltran, MD; Jordan E. Bouldin, BS ASCP(MB); Callie S. Barker, BS ASCP(MB); Randall Brunson, BS; Lynne S. Rosenblum, PhD, FACMG
(P144) Persistence of Growth-Promoting Effects in Children with Achondroplasia Up to 7 Years: Update from Phase 2 Extension Study with Vosoritide
Wednesday, 4:00 pm - 11:59 pm
Julie E. Hoover-Fong, MD, PhD, FACMG; Melita Irving, MD; Carlos A. Bacino, MD, FACMG; Joel Charrow, MD; Carlos Prada, MD; Valerie Cormier-Daire, MD; Lynda E. Polgreen, MD; Paul R. Harmatz, MD; Sajda Ghani, MSc; Elena Fisheleva, MD; Andrea Low, MD, PhD; Jonathan Day, MB, BS, PhD; Ravi Savarirayan, MD, PhD; John A. Phillips III, MD
(P131) Persistence of Growth-Promoting Effects in Infants and Toddlers with Achondroplasia: Results from a Phase II Extension Study with Vosoritide
Wednesday, 4:00 pm - 11:59 pm
Ravi Savarirayan, MD, PhD; William R. Wilcox, MD, PhD, FACMG; Paul R. Harmatz, MD; Lynda E. Polgreen, MD; Louise Tofts, MBBS; Keiichi Ozono, MD; Paul Arundel, MD; Melita Irving, MD; Carlos A. Bacino, MD, FACMG; Donald Basel, MBBCh; Ricki Carroll, MD, MBE; Joel Charrow, MD; Hiroshi Mochizuki, MD; Yumiko Kotani, MD; Howard M. Saal, MD, FACMG, FAAP; Lingling Han, PhD; Andrea Low, MD, PhD; Elena Fisheleva, MD; Jonathan Day, MB, BS, PhD; John A. Phillips III, MD
(P139) Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia for up to 4 years: Update from Phase 3 Extension Study
Wednesday, 4:00 pm - 11:59 pm
Ravi Savarirayan, MD, PhD; Louise Tofts, MBBS; Melita Irving, MD; William R. Wilcox, MD, PhD, FACMG; Carlos A. Bacino, MD, FACMG; Julie E. Hoover-Fong, MD, PhD, FACMG; Rosendo Ullot Font, MD; Paul R. Harmatz, MD; Frank Rutsch, MD; Ricki Carroll, MD, MBE; Lynda E. Polgreen, MD; Ignacio Ginebreda, MD; Klaus Mohnike, MD; Joel Charrow, MD; Carlos Prada, MD; Daniel Hoernschemeyer, MD; Keiichi Ozono, MD; Takuo Kubota, MD; Yasemin Alanay, MD, PhD; Paul Arundel, MD; Yumiko Kotani, MD; Natsuo Yasui, MD; Klane K. White, MD; Shelley Brandstetter, ARNP; Howard M. Saal, MD, FACMG, FAAP; Antonio Leiva-Gea, MD; Felipe Luna-González, MD; Hiroshi Mochizuki, MD; Asako Tajima, MD; Donald Basel, MBBCh; Elena Fisheleva, MD; Andrea Low, MD, PhD; Sue Lawrinson, MSc; Jonathan Day, MB, BS, PhD
(P141) Persistent Growth-Promoting Effects of Vosoritide in Children with Achondroplasia is Accompanied by Improvement in Physical Aspects of Quality of Life
Wednesday, 4:00 pm - 11:59 pm
Ravi Savarirayan, MD, PhD; Louise Tofts, MBBS; Melita Irving, MD; William R. Wilcox, MD, PhD, FACMG; Carlos A. Bacino, MD, FACMG; Julie E. Hoover-Fong, MD, PhD, FACMG; Rosendo Ullot Font, MD; Paul R. Harmatz, MD; Frank Rutsch, MD; Ricki Carroll, MD, MBE; Lynda E. Polgreen, MD; Ignacio Ginebreda, MD; Klaus Mohnike, MD; Joel Charrow, MD; Carlos Prada, MD; Daniel Hoernschemeyer, MD; Keiichi Ozono, MD; Yasemin Alanay, MD, PhD; Paul Arundel, MD; Yumiko Kotani, MD; Natsuo Yasui, MD; Klane K. White, MD; Shelley Brandstetter, ARNP; Howard M. Saal, MD, FACMG, FAAP; Antonio Leiva-Gea, MD; Felipe Luna-González, MD; Hiroshi Mochizuki, MD; Donald Basel, MBBCh; Elena Fisheleva, MD; Richard Rowell, PhD; Alice Huntsman Labed, PhD; Jonathan Day, MB, BS, PhD; Takuo Kubota, MD; Asako Tajima, MD
(P522) Personalized Prescriptions: Potential Clinical Impact of Pharmacogenetic Screening
Wednesday, 4:00 pm - 11:59 pm
Jada Pugh, ScM, CGC; Madison K. Thomas, BS; Meagan E. Cochran, MS, CGC; Kelly M. East, MS, CGC
(P710) Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank
Wednesday, 4:00 pm - 11:59 pm
Erika Frangione, MSc; Xu Xinyi, BSc; Vincent Chapdelaine, MSc; Selina Casalino, MSc, CCGC; Navneet Aujla, HBSc; Radhika Mahajan, BSc; Lochana Jayachandran, BSc; Gregory Morgan, MSc; Mackenzie Scott, BSc; Juliet Young, BSc; Brendan Dickson, MD; Saranya Arnoldo, PhD; Erin Bearss, MD, CCFP(EM); Alexandra Binnie, MD; Bjug Borgundvaag, PhD, MD, CCFP(EM); Howard Chertkow, PhD; Marc Clausen, MA; Marc Dagher, MD; Luke Devine, MD; Steven M. Friedman, MD; Anne-Claude Gingras, PhD; Lee W. Goneau, PhD; Deepanjali Kaushik, MCom, CCRP; Zeeshan Khan, RN; Elisa Lapadula, BSc; Georgia MacDonald, BSc; Tony Mazzulli, MD; Allison McGeer, MD, FRCPC; Shelley McLeod, MSc, PhD(C); Chloe Mighton, MSc; Trevor J. Pugh, PhD; David Richardson, MD; Jared Simpson, PhD; Seth Stern, MD; Lisa Strug, PhD; Ahmed Taher, MD; Iris Wong, RN; Natasha Zarei, RN; Elena Greenfeld, PhD, MD; Yvonne Bombard, PhD; Abdul Noor, PhD; Hanna Faghfoury, MD, FRCPC, FCCMG; Jennifer Taher, PhD; Daniel Taliun, PhD; Jordan Lerner-Ellis, PhD
(P216) Phenotype and Genotype of Vietnamese Patients with X-linked Adrenoleukodystrophy
Wednesday, 4:00 pm - 11:59 pm
Dung Vu, MD, PhD; Khanh N. Nguyen, MD. PhD; Ha T. Nguyen, MD; Ngoc TB. Can, MD, PhD; Thao P. Bui, MD. PhD
(P682) Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
Wednesday, 4:00 pm - 11:59 pm
Amir Hossein Saeidian, PhD; Liesbeth Vossaert, PhD, FACMG; Elizabeth A. Mizerik, MS; Wilson CW Wu, PhD, FACMG; Hongzheng Dai, Ph.D, FACMG; Nichole Owen, PhD, FACMG; Janice L. Smith, PhD; Linyan Meng, PhD; Christine M. Eng, MD; Fan Xia, Ph.D; Weimin Bi, PhD; Xiaonan Zhao, PhD, FACMG
(P207) Phenotype-driven Algorithms for Enhanced Rare Disease Diagnostics
Wednesday, 4:00 pm - 11:59 pm
Isabelle B. Cooperstein, PhD Candidate; Gabor Marth, DSc; Alistair N. Ward, MA, MSci, MS, PhD
(P017) Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns
Wednesday, 4:00 pm - 11:59 pm
Lauren O'Grady, MS, CGC; Emilie S. Zoltick, ScD, MPH; Hana Zouk, MS, PhD, FACMG; Wei He, MS; Amel Karaa, MD; Inderneel Sahai, MD; Emma Perez, MS; Robert C. Green, MD, MPH; Nina B. Gold, MD, FACMG
(P136) Phenotypic Characterization and Genetic Interrogation of Patients with Cleidocranial Dysplasia
Wednesday, 4:00 pm - 11:59 pm
Shakela Mitchell, BS; Julie E. Hoover-Fong, MD, PhD, FACMG; Nara Sobreira, MD, PhD; Kristina Wade, BS; Caroline Stole, Research Assistant; Ilana Zinn, DMD, MS
(P130) Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome
Wednesday, 4:00 pm - 11:59 pm
Kirsty McWalter, MS, CGC; Andrew Bauer, MD; Houda Elloumi, PhD, FACMG; Richard Sidlow, MD; Ben Willis, BS; John Walsh, MD
(P317) Phenotypic variability among three family members with RAD21 Cornelia de Lange Syndrome
Wednesday, 4:00 pm - 11:59 pm
Stacey L. Cole, MD, MBA; Brian J. Shayota, MD, MPH, FACMG; Vanina Taliercio, MD; Brianna Stebbins, MS; Gulsen Akay, MD; Nicola Longo, MD PhD FACMG
(P018) Phenylketonuria Families and Researchers Evaluating Evidence (PHEFREE), the NIH Rare Disease Consortium for PKU
Wednesday, 4:00 pm - 11:59 pm
Georgianne L. Arnold, MD; Uta Lichter-Konecki, MD PhD; Dorothy K. Grange, MD; Gerard T. Berry, MD; Nicola Longo, MD PhD FACMG; Desiree A. White, PhD; Shawn E. Christ, PhD; Cary O. Harding, MD; Janet A. Thomas, MD, FACMG
(P534) Piloting an Australian Quality Assurance Program Interpretive Module for Genomic Testing
Wednesday, 4:00 pm - 11:59 pm
Alicia B. Byrne, PhD; Dimitar Azmanov, PhD; Sze Chai, PhD; John Christodoulou, MD PhD; Matilda Haas, PhD; Karin Kassahn, PhD; Ben Lundie, BS; Sebastian Lunke, PhD; Ami Stott, BS; Bryony Thompson, PhD; Tony Badrick, PhD; Bruce Bennetts, PhD
(P307) Pioneering Integrated Hereditary Prostate Genetic Testing Service in a Physician Office Laboratory
Wednesday, 4:00 pm - 11:59 pm
Jayne Hoo, MS, MB(ASCP); Meghan Hugel, MBt, MB(ASCP), CGMBS; Navanjot Batth, MS, MB(ASCP), CGMBS; Daniel Chen, MD, PhD; Sepi Mahooti, MD, FCAP, FASCP
(P668) PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease
Wednesday, 4:00 pm - 11:59 pm
Katharina V. Schulze, PhD, FACMG; Matthew Hoi Kin Chau, MSc, PhD; Hongzheng Dai, Ph.D, FACMG; Elizabeth A. Mizerik, MS; Keren Machol, MD, PhD; Nichole Owen, PhD, FACMG
(P530) Point-of-care Genetic Testing with Paired E-consult: An Effective Alternative Service Delivery Model for Patients with Breast Cancer
Wednesday, 4:00 pm - 11:59 pm
Christine E. Kobelka, MSc; Jonathan S. Berg, MD PhD; Julianne M. O'Daniel, MS; Kimberly Foss, MS; Ashlynn Messmore, MS; Erica Baynard, BS; Bradford C. Powell, MD, PhD, FACMG; Megan C. Roberts, PhD
(P235) Polycystic kidney disease and hepatic fibrosis: phenotypic expansion of Sotos Syndrome
Wednesday, 4:00 pm - 11:59 pm
Seysha N. Mehta, BS; Aditi Yadav, MD; Sarah Mazzola, MS; Katherine Dell, MD; Xiangling Wang, MD, PhD
(P627) Pool of Normal Optimisation for NGS-Based CNV Calling in a Clinical Setting
Wednesday, 4:00 pm - 11:59 pm
Benjamin Neveu, PhD, DEPD, CSPQ; Julie Amyot, PhD, DEPD, CSPQ, FCACB; Sandra Therrien-Laperrière, MSc; Valérie Hay, MSc
(P461) Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo Population
Wednesday, 4:00 pm - 11:59 pm
Silvina N. Contreras-Capetillo, MD, Medical Geneticist; Melania Abreu, MD, MS; Rodrigo Rubí-Castellanos, Doctor; Lizbeth González-Herrera, Doctor; Jorge A. Rangel-Méndez, PHD, PhD in health sciences; Doris C. Pinto-Escalante, MD, Medical Geneticist; Julia Ribbón-Conde, MD, Neurologist pediatrician; Jary Couoh-Castañeda, MD, Neurologist pediatrician
(P007) PP4 criteria specifications for proximal urea cycle disorders
Wednesday, 4:00 pm - 11:59 pm
Kara Simpson, MS, CGC; Nicholas Ah Mew, MD; Ljubica Caldovic, Ph.D.; Annette Feigenbaum, MBChB, FRCP, DABMG; Raquel Fernandez, BS; Emily Groopman, MD, PhD; Andrea Gropman, MD, FACMG; Emily Kudalkar, Ph.D., FACMG, CGMBS; Uta Lichter-Konecki, MD PhD; McKenna Kyriss, PhD, FACMG; Elaine B. Spector, PhD, FACMG; Meredith A. Weaver, PhD; Manya Warrier, Ph.D.; Diane Zastrow, MS, CGC; Amanda Thomas-Wilson, PhD, MS, FACMG
(P793) Pre- and post-implementation of protocol for genetics evaluation for intrauterine fetal demise at Texas Children’s Hospital
Wednesday, 4:00 pm - 11:59 pm
Liz Mizerik, MS; April D. Adams, MD, MD, MS, FACMG, FACOG; Lena Shay, MD; Christian Parobek, MD PhD; Lauren E. Westerfield, MS, CGC; Janice L. Smith, PhD
(P173) Precision Animal Modeling and VUS-Resolution in a Novel AXIN2-Related Disorder
Wednesday, 4:00 pm - 11:59 pm
Lindsay C. Burrage, MD, PhD; Denise Lanza, PhD; Paul Marcogliese, PhD; Di Lu, BS; Chih-Wei Logan Hsu, PhD; Nathalie Aceves, BS; Audrey Christiansen, PhD; Tara Rasmussen, PhD; Angelina Gaspero, BS; John R. Seavitt, PhD; Mary Dickinson, PhD; Brian J. Shayota, MD, MPH, FACMG; Stephanie Pachter, MS; Debra-Lynn Day-Salvatore, MD; Oguz Kanca, PhD; Michael F. Wangler, MD; Lorraine Potocki, MD; Jill A. Rosenfeld, MS; Brendan Lee, MD, PhD, FACMG; Shinya Yamamoto, DVM, PhD; Hugo Bellen, DVM, PhD; Jason D. Heaney, PhD; Matthew Gonzalez, MS
(P474) Precision Child Health: Integrating a consultative Pharmacogenetics (PGx) program into Clinical Care at the Hospital for Sick Children
Wednesday, 4:00 pm - 11:59 pm
Iris Cohn, Msc (Pharm); Olivia M. Moran, MSc, MSc; Kaitlin Stanley, MSc candidate; Sierra Scodellaro, MHSc; April M. Kennedy, MHSc; Roozbeh Manshaei, PhD; Ruud H. Verstegen, MD, PhD; Shinya Ito, MD, FRCPC; Tamorah Lewis, MD, PhD; Raymond H. Kim, MD; Rebekah K. Jobling, MD
(P147) Precision Medicine Approaches to Treatment for HNRNPH2 Mutations
Wednesday, 4:00 pm - 11:59 pm
Huiping Zhu, PhD., M.B.; Rodney Bowling, Ph.D.; Robert Cabrera, Ph.D.; Courtney Banks, Ph.D.; Richard Finnell, Ph.D.
(P496) Predictors of Genetic Counseling Uptake When Using a Family Health History Platform for Hereditary Cancer Risk
Wednesday, 4:00 pm - 11:59 pm
Azita Sadeghpour, PhD, MS; Rachel Myers, phD; Meredith Gerhart, BS, CGC, MSGC, LGC; Natasha Celaya-Cobbs, LPN; Harris T. Bland, MBA, MPH; Justin Andujar, BA; Georgia L. Wiesner, MD, MS; Lori A. Orlando, MD
(P784) Prenatal and Perinatal Features of a Type 2 Collagenopathy and COL2A1 Variant
Wednesday, 4:00 pm - 11:59 pm
Lisa A. McNamee, MD; Jacquelyn F. Britton, MGC, CGC; Julie E. Hoover-Fong, MD, PhD, FACMG; Bobby K. Brar, MD; Michelle Kush, MD; Sarah Millard, BS, RDMS
(P697) Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q
Wednesday, 4:00 pm - 11:59 pm
Reza Ghasemi, Ph.D.; Cassandra Trammel, MD, MBA; Nathaniel R. Jensen, MD, PhD; Amie Stanley, MS, CGC; Sarah Smith, RN, BSN, CLC; Molly C. Schroeder, PhD; Julie A. Neidich, MD; Marwan Shinawi, MD; Sherri L. Jackson, MD, MPH; Katarzyna Polonis, PhD
(P796) Prenatal Diagnosis of a Novel Biallelic ARFGEF1-Related Disorder Due to Uniparental Isodisomy: a Case Report
Wednesday, 4:00 pm - 11:59 pm
Julia A. Coltri, MS; Samantha L. Wiegand, MD; Ginger J. Tsai, MS; Bethany Buckley, PhD, FACMG
(P804) Prenatal diagnosis of atypical Holt-Oram syndrome caused by a novel inherited intragenic TBX5 duplication: a rare mechanism with variable expressivity
Wednesday, 4:00 pm - 11:59 pm
Michael P. Mackley, MD, DPhil; Rachel Silver, MSc, CGC; Nicholas Watkins, MSc, CGC/CCGC; Elena Greenfeld, PhD, MD; Sarah Redmond, MD; Hui Jue Zhang, MD; Maian Roifman, MD; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS
(P806) Prenatal diagnosis of maternal uniparental disomy of chromosome 20: A case report and review of the literature
Wednesday, 4:00 pm - 11:59 pm
Catherine Urbina, MS; Chanyong Kim, MS CGC; Jee Hey Song, MD; Susan D. Klugman, MD, FACMG; Sara S. Rabin-Havt, MD
(P815) Prenatal Diagnosis of Tetrasomy 21: Case Reports
Wednesday, 4:00 pm - 11:59 pm
Kyna Byerly, MS, CGC; Hutton M. Kearney, PhD; Kristen Nye, MS, CGC; Nicole L. Hoppman, PhD, FACMG
(P732) Prenatal Diagnostic Genetic Testing in 2023: The Experience of a Medical Center-Affiliated Cytogenetics Laboratory
Wednesday, 4:00 pm - 11:59 pm
Kelly Rafferty, PhD, MS; Lori A. Ramkissoon, PhD; Alexandra Isaacs, MS; Lucy McNamee, MS; Carolyn Mains, MS; Ryan O'Mara, MBA; Clarissa Silver, BS; Krystine Covill, BS
(P781) Prenatal Whole Exome Sequencing: Diagnostic Yield, Syndromic Landscape, and Incidence and Uptake of Secondary Findings
Wednesday, 4:00 pm - 11:59 pm
Kayleigh N. Avello, MS, LCGC; Shawn Gessay, MSGC; Natalie Jacob, MS, LCGC; Megan Nelson, CGC, MSGC
(P811) Prenatally Diagnosed Ring Chromosome 18: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Corrine Nelson, DO; Myra J. Wick, MD, PhD
(P514) Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check
Wednesday, 4:00 pm - 11:59 pm
Heidi Cope, MS, CGC; Rebecca Wright, MPH; Ana N. Forsythe, MS; Rebecca Moultrie, AS; Sara Andrews, MAT, MPH, RD, LDN; Samantha Scott, LCSW; Sa'Nealdra Wiggins, PhD; Blythe Crissman, MS, CGC; Emily H. Cheves, BS; Melissa H. Raspa, PhD; Lisa H. Gehtland, MD; Jennifer H. Law, MD; Cynthia M. Powell, MD, MS, FACMG; Holly L. Peay, PhD, MS, CGC
(P083) Prevalence and Penetrance of LZTR1 Pathogenic Variants: To Screen or Not to Screen?
Wednesday, 4:00 pm - 11:59 pm
Susan Shehayeb, MS, CGC; Hunaydah Elfarawi, MS, CGC; Kaila Wilson, MS, CGC; Wai Park, DO; Anuja Chitre, MS, CGC; Lawrence A. Shaktah, MS; Duveen Sturgeon, NP; Kevin McDonnell, MD, Ph.D; Heather Hampel, MS, CGC; Alexandra Capasso, MS, CGC; Stacy W. Gray, MD, AM
(P181) Prevalence of and Risk Factors for Autism Spectrum Disorder in Individuals with Turner Syndrome: Results from the InsighTS Registry
Wednesday, 4:00 pm - 11:59 pm
Megan Bettencourt, BS; Susan Howell, MS, CGC, MBA; Christa Hutaff-Lee, PhD; Deanna Swain, PhD; Alexandra Carl, MPH; Samantha Bothwell, MS; Nicole Tartaglia, MD, MS; Shanlee Davis, MD,PhD
(P204) Primary Care Electronic Medical Record Features Predicting Genetics Referrals
Wednesday, 4:00 pm - 11:59 pm
Cristal I. Hernandez Hernandez, MD; Nhat T. Duong, MS; Andrea Cohen, MD, PhD; Elmer Rajah, BS; Eric J. Vilain, MD, PhD; Daniel Felten, MD; Andrea L. Gropman, MD, FACMG; Seth I. Berger, MD, PhD
(P196) Primary Care Precision Medicine Clinic: A Retrospective Analysis of Patient Trends, Testing Modalities, and Evolving Visit Models from 2019-2023
Wednesday, 4:00 pm - 11:59 pm
Erika Dreikorn, PhD; Natasha Robin-Berman, MS, MPH, CGC; Christine D. Munro, MS, MPH; Brianne N. Phillips, CRNP; Kayla N. Rowe, PharmD; Lucas Berenbrok, PharmD, MS; Phillip N. Empey, PharmD, PhD; Mylynda B. Massart, MD, PhD; Lucy Galea, MS, CGC
(P513) Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using an EHR-Agnostic Tele-Engagement Platform
Wednesday, 4:00 pm - 11:59 pm
Blake Vuocolo, MS, CGC; ROBERTA SIERRA, LBSW- IPR; Daniel Brooks, MD; Kent Carter, MD; Keila Rodriguez, MD; Lori Berry, MD; Ana Hernandez, MD; Christopher Holder, BSc; Lauren Urbanski, MHA; Hongzheng Dai, Ph.D, FACMG; Claudia R. Soler-Alfonso, MD, FACMG; Brendan Lee, MD, PhD, FACMG; Seema Lalani, MD; Jose Gamez Godoy, MD; Surya N. Mulukutla, MD; Segundo Lizardo-Guzman, MD; Humberto Hidalgo, MD; Alberto Allegre, MD; Sandy Magallan, MD; Sarah Rodriguez, MD
(P379) Proposing pathogenicity of an SGCE variant of unknown clinical significance in a 17-year-old with new onset dystonia
Wednesday, 4:00 pm - 11:59 pm
Abrianne Joseph, BS; Kassi Wilson, APRN; Deanna Almanza, MSPH, CGC; Amarilis Sanchez-Valle, MD
(P337) Psychosocial adjustment and distress in neonatal versus adolescent diagnosis of SRY–related gonadal dysgenesis: Two illustrative cases
Wednesday, 4:00 pm - 11:59 pm
Jacqueline Leonard, MSc MS LCGC; Marissa Kilberg, MD; Maria G. Vogiatzi, MD; Leela Morrow, PsyD; Jason Van Batavia, MD; Thomas F. Kolon, MD; Louise C. Pyle, MD, PhD
(P870) Racial Disparity in the Diagnosis of Mitochondrial Disease
Wednesday, 4:00 pm - 11:59 pm
Daniel E. McGinn, MSGC; Colleen Muraresku, MS, LCGC; Kathleen D. Valverde, PhD, LCGC; Marni J. Falk, MD; Rebecca D. Ganetzky, MD, FACMG
(P853) Racial, Ethnic, & Socioeconomic Disparities in General Genetics Evaluation & Testing in the Adult Population
Wednesday, 4:00 pm - 11:59 pm
Jessica I. Gold, MD, PhD; Theodore G. Drivas, MD, PhD; Staci Kallish, DO; Stephanie B. Asher, CGC; Anna Raper, CGC; Latrice Landry, PhD, MMSc, MS; Courtney Condit, MS, CGC; Isaac F. Elysee, CGC; Katherine L. Nathanson, MD; Zoe Bogus, MS, CGC; Yehuda Elkaim, BS; Laura Hennessy, MS, CGC; Emma Kennedy, MS, CGC; Colleen Kripke, DPT, MSA; Anurag Verman, PhD
(P805) Rare Clinical Gene Variant of GBE1: Glycogen Storage Disease IV
Wednesday, 4:00 pm - 11:59 pm
Megan Miller, MD; Elana Perry, MD; Anne Heuerman, MS, CGC; Hyunyoung Ahn, MD; Zeynep Alpay Savasan, MD
(P727) Rare Disease Diagnostics using RNA-Seq: How an Investigational Transcriptomic Test Helped Conclude a 12-Year Diagnostic Odyssey
Wednesday, 4:00 pm - 11:59 pm
Jessica A. Cooley Coleman, PhD; Adithya Kandhadai, PhD; Christa Clinemyer, BS; Timothy Fee, PhD; Benjamin A. Hilton, PhD; Barbara R. DuPont, PhD, FACMG; Michael J. Lyons, MD; Roger E. Stevenson, MD; Michael J. Friez, PhD
(P865) Rare Disease Narratives on Social Media
Wednesday, 4:00 pm - 11:59 pm
Cassidy Scott, BA pending; Hannah Park, BSc; Monica H. Wojcik, MD; Hadley S. Smith, PhD, MPSA
(P381) Rare mechanisms causing UPD(14)pat and UPD(14)mat
Wednesday, 4:00 pm - 11:59 pm
Emily Waskow, DO; Liz Mizerik, MS; Nichole Owen, PhD, FACMG; Matthew Hoi Kin Chau, PhD; Rachel Franciskovich, MS, CGC; Kevin E. Glinton, MD, PHD; Keren Machol, MD, PhD
(P099) Rare Within the Rare: A Case of Young-onset Meningioma Revealing the Diagnosis of BAP1-Tumor Predisposition Syndrome
Wednesday, 4:00 pm - 11:59 pm
Rachelle Manookian, MS, CGC; Jennifer Cotter, MD; Jianling Ji, MD, MS, FACMG; Katrina O'Halloran, MB BCh BAO, MS
(P611) Real-world comparison of HLA callers from exome sequencing data
Wednesday, 4:00 pm - 11:59 pm
Yi-Lin Lin, Master; Ni-Chung Lee, MD, PhD; Yin-Hsiu Chien, MD, PhD; Wuh-Liang Hwu, MD, PhD; Ching Hsu, MS; Yi-Chen Huang, Masters
(P576) Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs)
Wednesday, 4:00 pm - 11:59 pm
Emily Spector, B.S. (anticipated 2024); Erica F. Andersen, PhD, FACMG; John Herriges, PhD; Anne W. Higgins, PhD, FACMG; Brynn Levy, M.Sc.(Med).,PhD.; Ludmila Matyakhina, PhD; Christa L. Martin, PhD, FACMG, DABMGG; Daniel E. Pineda-Alvarez, MD, FACMG; Lina Shao, PhD; Shashirekha Shetty, PhD, FCCMG, FACMG; Andrea K. Vaags, PhD; Erik C. Thorland, PhD; Sung-Hae L. Kang, PhD; Chelsea Lowther, PhD; Dominic J. McMullan, PhD; Erin R. Riggs, MSGC, CGC
(P197) Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management
Wednesday, 4:00 pm - 11:59 pm
Euyn Lim, BA; Chloe Borden, BS; Seysha N. Mehta, BS; Xiangling Wang, MD, PhD; Mary-Beth Roberts, MS, CGC; Sarah Mazzola, MS; Fang Zhao, MD, PhD
(P020) Recommendations from the ClinGen Peroxisomal variant curation expert panel for variant classification in ABCD1
Wednesday, 4:00 pm - 11:59 pm
Shruthi Mohan, PhD; Irene De Biase, MD, PhD, FACMG; Tatiana Yuzuk, PhD, FACMG; Alexa Dickson, PhD; Tiziano Pramparo, PhD; Meredith A. Weaver, PhD; Raquel Fernandez, BS; Stephanie Francis, MS, CGC; Sharon F. Suchy, PhD, FACMG; Ann Moser, BS; Rong Mao, MD; Nancy E. Braverman, MD, MS
(P473) Reconciling Medical Genetics Educational Competencies and Closing Gaps in Undergraduate Medical Education
Wednesday, 4:00 pm - 11:59 pm
Rachel D. Burnside, PhD, MBA`; Petr Starostik, MD; Megan Boothe, MD; Heather Stalker, LCGC; Pamela Trapane, MD
(P095) Recontacting Patients with a CHEK2 or ATM Pathogenic Variant for Updated NCCN Screening Guidelines: Report from an NCI-Designated Cancer Center
Wednesday, 4:00 pm - 11:59 pm
Katie Neimeyer, MS, CGC; Lauren H. Brown, MS, CGC; Sidney Ching, BS; Cynthia Handford, MSc, CGC; Britta Sjoding, MS, CGC; Kevin Tatunay, BS; Marianne Dubard-Gault, MD, MS
(P841) Recruitment, Consent and DNA Sample Acquisition in a U.S. Precision Health Cohort During the COVID-19 Pandemic
Wednesday, 4:00 pm - 11:59 pm
Allyson Derry, MD Candidate, M1; Yvette Strong, Project Manager; Davia Schioppo, MS; Joni Cotter, Research Assistant; Geisa M. Wilkins, Research Assistant; Laura I. Siqueiros, Research Assistant; Andrea Ouyang, Research Assistant; Kathleen Hulseman, Research Assistant; Joseph Petrosino, Research Assisstant; Lorrin Liang, Research Assistant; Megan Stevenson, Research Assistant; Tiffany Aguilera, Research Assistant; Alexandria L. Soto, Research Assistant; Katherine Meurer, Research Assistant; Alison L. Herman, Research Assistant; Inessa Cohen, Research Assistant; Guido J. Falcone, MD; Erin E. Longbrake, MD/PhD; Cassius I. Ochoa Chaar, MD, MPH, MS; Kelly M. Anastasio, Project Manager; Michael F. Murray, MD
(P594) Reducing Disparities in Cystic Fibrosis Newborn Screening in New York State
Wednesday, 4:00 pm - 11:59 pm
Denise M. Kay, PhD; Christina Kim, MPH; Robert J. Sicko, BS; Jacklyn Dott, BS; Erin Hughes, MS; Lea Krein, BS; Carlos Saavedra-Matiz, MD; Michele Caggana, ScD, FACMG
(P034) Reduction of Blood Phenylalanine in Participants Enrolled in OPAL, an Observational Study, Mirror Findings from the US-based PRISM Population
Wednesday, 4:00 pm - 11:59 pm
Sarah Rose, MS, RD; Markey C. McNutt, II, MD, PhD; Ania C. Muntau, MD; Frank Rutsch, MD; Ogun Sazova, MD; Milad Karimi, PhD; Karen Gu, PhD
(P859) Reframing the Narrative on Incompatible With Life in Trisomy 18 & 13
Wednesday, 4:00 pm - 11:59 pm
Deborah A. Bruns, PhD; John C. Carey, MD, MPH, FACMG, FAAP
(P572) Repeated Exome Reanalysis Is Most Impactful after Two Years and the Majority of New Findings Are in Neurodevelopmental Genes
Wednesday, 4:00 pm - 11:59 pm
Megan Li, PhD; Yi-Lee Ting, MS, CGC; Trevor Williams, PhD; Brandon Bunker, PhD; Daniel E. Pineda-Alvarez, MD, FACMG; Swaroop Aradhya, PhD FACMG; Jackie Tahiliani, MS, CGC
(P286) Report of Individual Diagnosed with MPS type 1 Attenuated Form in Late Adulthood
Wednesday, 4:00 pm - 11:59 pm
Jenna Lea, CGC; Hailey Segall, MS; Kristin Clinard, MS, CGC; Elizabeth R. Jalazo, MD; Claudia Testa, MD, PhD
(P060) Response to Intravenous Citrate on a Patient on CKRT with Pyruvate Carboxylase Deficiency Type B (Severe Neonatal Form)
Wednesday, 4:00 pm - 11:59 pm
Mercedes Rodriguez Celin, Mercedes Rodriguez Celin; Hollis Johnson, MD; Joshua Fields, MD; Hannah Brodner, MS, CGC; Jennifer Stengrevics, PA-C; Ellen Cody, MD; Lauren Burgunder, MD; Michael Muriello, MD; Kelly L. Jones, MD
(P122) Retinoblastoma Discordant Monozygotic Twins and the Discovery of an Intron 15 RB1 Variant
Wednesday, 4:00 pm - 11:59 pm
Jaime L. Jessen, MSc, CGC, CCGC; Hilary Racher, Dr., PhD, FCCMG, DABMGG; Mario Zanolli, MD, DABO; Diego Ossandon, MD, FRCSC
(P087) Retrospective analysis of Comprehensive Cancer Panel sequencing at Fox Chase Cancer Center to evaluate the QIAGEN Clinical Insight Interpret database
Wednesday, 4:00 pm - 11:59 pm
Tingwei Guo, Ph.D. FACMG; Don A Baldwin, Ph.D.; Yinfei Tan, Ph.D.; Yulan Gong, MD; Min Huang, MD, PhD,; Nicholas Mackrides,, MD; Reza M Nejati, MD; Yue Lynn Wang, MD, PhD, FCAP; Mariusz Wasik, MD
(P359) Retrospective Analysis of Non-Ketotic Hyperglycinemia Patients in Central and Eastern Kentucky
Wednesday, 4:00 pm - 11:59 pm
Shane Reeves, MD, MPH; M. Austin Wahle, Medical Student; David Toupin, MD
(P126) RETROSPECTIVE STUDY OF THE IMPACT OF ENDOPREDICT: EXPERIENCE FROM AN HOSPITAL CENTER
Wednesday, 4:00 pm - 11:59 pm
Ana Guia-Pereira, Ana Guia-Pereira; Marta Amorim, MD; Sara Carapeta, MS; Rita Ribeiro, MS; Rui Dinis, MD; Maria José Sousa, MD; Germano Sousa, MD
(P523) Returning all clinically relevant findings from genomic sequencing: Preliminary results from the Incidental Genomics RCT
Wednesday, 4:00 pm - 11:59 pm
Yvonne Bombard, PhD; Chloe Mighton, MSc; Salma Shickh, MS, PhD, CGC; Marc Clausen, MA; Rita Kodida, MSc, CCGC; Emma Reble, MSc; Jordan Sam, MHSc; Sonya Grewal, HBSc; Seema Panchal, MSc, CGC; Melyssa Aronson, CGC; Susan Armel, CGC; Tracy Graham, CGC; Nicole Forster, MSc, CGC; Jose-Mario Capo-Chichi, PhD, FACMG; Elena Greenfeld, PhD, FCCMG, FACMG; Abdul Noor, PhD; Iris Cohn, Msc (Pharm); Chantal F. Morel, BSc, MD, FRCPC; Christine Elser, MD; Andrea Eisen, MD; June C. Carroll, MD; Emily Glogowski, MSc, LCGC; Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Jordan Lerner-Ellis, PhD; Raymond H. Kim, MD; Kevin E. Thorpe, MMath
(P064) Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care versus research return of results
Wednesday, 4:00 pm - 11:59 pm
Ilham Abbasi, BSc; Emma Perez, MS; Hana Zouk, MS, PhD, FACMG; Matthew S. Lebo, PhD, FACMG; Robert C. Green, MD, MPH; Nina B. Gold, MD, FACMG
(P211) Review of Genomic Test Orders for Pediatric Inpatients Receiving Exome and Genome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Haley Streff, MS; Lisa F. Saba, MS; Dolores Lopez-Terrada, MD, PhD; Jennifer C. Scull, PhD
(P504) Risk Management for Pediatric Patients with Clinically Actionable Pathogenic and Likely Pathogenic Variants with Onset Throughout the Lifespan
Wednesday, 4:00 pm - 11:59 pm
Gretchen Thone, MS; Alyson E. Evans, MS, CGC; Tracey Leitzel, BS; John Murray, Medical Student; Juliann M. Savatt, MS, CGC; Adam H. Buchanan, MS, MPH, CGC
(P605) RNA Sequencing as a Second-Line Test for Rare Disease
Wednesday, 4:00 pm - 11:59 pm
Aren E. Marshall, PhD; Giulia F. Del Gobbo, PhD; Yijing Liang, MHSc; Madeline Couse, MSc; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Kristin D. Kernohan, PhD, FCCMG
(P764) RNA Sequencing Improves Assessment of Variants of Uncertain Significance From Fetal Genome and Exome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Atteeq U. Rehman, PhD, FACMG; Amanda Thomas-Wilson, PhD, MS, FACMG; Frederic Tran Mau-Them, MD, PhD; Leandra K. Tolusso, MS, CGC; Avinash Abyankar, MD, PhD; Saurav Guha, PhD, FACMG; Volkan Okur, MD, FACMG; Vanessa Felice, BS; Robert J. Hopkin, MD; Ashley L. Wilson, MS; Ted Han, PhD; Qiaoning Guan, MD, PhD; Jessica L. Giordano, MS, CGC; Anne-Claire Bréhin, Ms., MD; Ronald J. Wapner, MD; Vaidehi Jobanputra, PhD, MS, FACMG
(P024) Role of Muscle Biopsy and Exome Re-analysis in a Mystery Case of Lactic Acidosis
Wednesday, 4:00 pm - 11:59 pm
Kuntal Sen, MD, FACMG; Elizabeth Pickup, MD; Steven Moore, MD PhD; Pim Suwannarat, MD; Christina Grant, MD, PhD; Nicholas Ah Mew, MD; Andrea L. Gropman, MD, FACMG
(P355) Rubinstein-Taybi syndrome-typical and atypical, Nemours experience and beyond
Wednesday, 4:00 pm - 11:59 pm
Gifty BHAT, MD; Dylan Allen, MSPH, CGC; Katherine Hehmeyer, MS; Kathleen O. Pope, MD, MS, FAAP, FACMG
(P277) Second individual with craniosynostosis and microdeletion including 14q22: premature fusion of cranial sutures and copy number variation
Wednesday, 4:00 pm - 11:59 pm
Rebekah Rapoza, MD-PhD Student; Lois J. Starr, MD, PhD, FAAP, FACMG; Omar Abdul-Rahman, MD; Kristin P. Fishler, MS, CGC
(P475) Secondary Findings Analysis in the Personalized Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern
Wednesday, 4:00 pm - 11:59 pm
Jennifer J. Johnston, PhD; Julie C. Sapp, PhD; Seeley Yoo, BS; Zara Wermers, BS; Sophia Hernandez, BS; Alison Motsinger-Reif, PhD; Adam Burkholder, MS; David Fargo, PhD; Janet E. Hall, MD, MS; Leslie G. Biesecker, MD
(P152) Seizure severity across neurogenetic conditions in Simons Searchlight
Wednesday, 4:00 pm - 11:59 pm
Michelle Kowanda, PhD, MsGC; Katina Calakos, PhD; LeeAnne Green Snyder, PhD; Catherine Kentros, MSc, CGC; Tristan Sands, MD, PhD; Siddharth Srivastava, MD; Jennifer M. Bain, MD, PhD; Gerhard Schratt, PhD; Cora M. Taylor, PhD; Wendy K. Chung, MD, PhD, FACMG
(P709) Self Reported vs. Genetic Ancestry from the GENCOV COVID-19 Genomic Sequencing Study
Wednesday, 4:00 pm - 11:59 pm
Erika Frangione, MSc; Selina Casalino, MSc, CCGC; Navneet Aujla, HBSc; Radhika Mahajan, BSc; Lochana Jayachandran, BSc; Gregory Morgan, MSc; Mackenzie Scott, BSc; Juliet Young, BSc; Brendan Dickson, MD; Saranya Arnoldo, PhD; Erin Bearss, MD, CCFP(EM); Alexandra Binnie, MD; Bjug Borgundvaag, PhD, MD, CCFP(EM); Howard Chertkow, PhD; Marc Clausen, MA; Marc Dagher, MD; Luke Devine, MD; Steven M. Friedman, MD; Anne-Claude Gingras, PhD; Lee W. Goneau, PhD; Deepanjali Kaushik, MCom, CCRP; Zeeshan Khan, RN; Elisa Lapadula, BSc; Georgia MacDonald, BSc; Tony Mazzulli, MD; Allison McGeer, MD, FRCPC; Shelley McLeod, MSc, PhD(C); Chloe Mighton, MSc; Trevor J. Pugh, PhD; David Richardson, MD; Jared Simpson, PhD; Seth Stern, MD; Lisa Strug, PhD; Ahmed Taher, MD; Iris Wong, RN; Natasha Zarei, RN; Elena Greenfeld, PhD, MD; Yvonne Bombard, PhD; Abdul Noor, PhD; Hanna Faghfoury, MD, FRCPC, FCCMG; Jennifer Taher, PhD; Jordan Lerner-Ellis, PhD
(P194) SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates
Wednesday, 4:00 pm - 11:59 pm
Tara L. Wenger, MD, PhD; Alexandra Keefe, MD, PhD; Lukas Kruidenier, MS CGC; Megan C. Sikes, MS, CGC; Joon-Ho Yu, PhD; Kate MacDuffie, PhD; Kailyn Anderson, MS, CGC; Olivia Sommers, MS; Heidi Gildersleeve, BS; Kati Buckingham, BS; Jessica X. Chong, PhD; Katrina M. Dipple, MD, PhD; David Veenstra, PharmD, PhD; Dan Doherty, MD; Danny E. Miller, MD, PhD; Deborah Copenheaver, MS; Jane Juusola, PhD, FACMG; Amy Snook, BS; Chayna Davis, PhD; Kirsty McWalter, MS; Jessica X. Chong, PhD; Paul Kruszka, MD; Michael J. Bamshad, MD; Abbey A. Scott, MS, CGC
(P278) Severe Secretory Diarrhea Investigated by Genome Sequencing and RNA-seq Yields Ultrarare Diagnosis of Trichohepatoenteric Syndrome (THES)
Wednesday, 4:00 pm - 11:59 pm
Jacqueline Yurkoski, MD; Ethan A. Mezoff, MD; William B. Burns, MD; Bimal P. Chaudhari, MD MPH; Daniel C. Koboldt, MS
(P777) Severely Elevated Bile Acids in Pregnancy and No-Call Result on Non-Invasive Prenatal Screening
Wednesday, 4:00 pm - 11:59 pm
Anna C. Curtin, MD; Nourhan Osman, Msc; Krishna R. Singh, MD, FACMG, FACOG; Herman L. Hedriana, MD; Zahabiya H. Chithiwala, MD
(P762) Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders
Wednesday, 4:00 pm - 11:59 pm
Noa Liscovitch-Brauer, PhD; Tom Rabinowitz, PhD; Sapir Bornstein, BSc; Lilach Schneor, MSc; Ravit Mesika, MSc; Meitar Grad, MSc; Reut Tomashov Matar, PhD; Lina Basel-Salmon, MD PhD; Oren Tadmor, BSc; Amir Beker, PhD; Noam Shomron, PhD
(P720) Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon
Wednesday, 4:00 pm - 11:59 pm
Madison Moe, BS; Supriya Sharma, PhD; Stephanie Htun, BS; Yihui Sun, PhD; Sergio Baranzini, PhD; Anne M. Slavotinek, MBBS, PhD, FACMG
(P667) Single Gene Deletion of FGF3 in a Patient with Features of 11q13 Microdeletion Syndrome
Wednesday, 4:00 pm - 11:59 pm
Hamed Rahi, PhD; Patricia I. Dickson, MD; Tomi L. Toler, MS, CGC; Meagan M. Corliss, Master; Yang Cao, PhD, FACMG
(P106) Single-cell and spatial transcriptomics integrated with bulk RNA-seq, uncovers differences in bidirectional tumor-macrophage crosstalk in IDHwt and IDHmut gliomas
Wednesday, 4:00 pm - 11:59 pm
Meysam Motevasseli, M.Sc.; Mina H. Tabrizi, M.D., Ph.D.; Maryam Darvishi, M.Sc.; Ali Najafi, Ph.D.; Alireza Khoshnevisan, M.D.; Mohammad Javad Abbaspour, M.D.; Ali Mamivand, M.Sc.; Hiva Saffar, M.D.; Susan Olson, Ph.D.; Shiva Bayat, Ph.D.
(P505) Sleeping Giant: Underrecognized Clinical Genetics Programs Across the Vast Veterans Affairs (VA) Network
Wednesday, 4:00 pm - 11:59 pm
Tanya N. Eble, MS, CGC; Benjamin L. Morris, PhD, MS, CGC; Christopher Lee, MHSM; Leigh Anne Flore, MD, MS, FACMG; Natasha Y. Frank, MD, FACMG; Jane Peredo, ScM, LCGC; Lael Hinds, MS, LCGC; Robert A. Pinter, MD, MPH, FACMG; Maren T. Scheuner, MD, MPH, FACMG; Shweta U. Dhar, MD, MS, FACMG, FACP
(P838) Spectrum of short tandem repeats in Taiwanese population
Wednesday, 4:00 pm - 11:59 pm
Ching Hsu, MS; Ming-Wei Hung, MS; I-Lin Lin, MS; Yin-Hsiu Chien, MD, PhD; Wuh-Liang Hwu, MD, PhD; Ni-Chung Lee, MD, PhD
(P478) Streamlining precision medicine: cancer predisposition germline testing in a large, integrated health system
Wednesday, 4:00 pm - 11:59 pm
Leslie Manace, MD, MPhil; Christine Garcia, MD, MPH; Hongxin Sun, MS; Juraj Kavecansky, MD
(P735) Structural Variant Analysis Unveils Loss-of-Function Promoter Deletion in Candidate Gene WDR44
Wednesday, 4:00 pm - 11:59 pm
Tam P. Sneddon, PhD; Mai Xiong, PhD; Kelly L. Gilmore, MS, CGC; Karen E. Weck, MD, FCAP; Bradford C. Powell, MD, PhD, FACMG; Neeta L. Vora, MD, FACMG
(P462) Student Experiences and Reflections on Rotations with Co-Supervision
Wednesday, 4:00 pm - 11:59 pm
Elizabeth Francisco, MS, LCGC; Jennifer Dickerson, MS; Jaime Blanchard, MS, CGC
(P851) Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey
Wednesday, 4:00 pm - 11:59 pm
Mikayla Shaffer, BS; Stephanie Santoro, MD; Melissa Constantine, PhD, MPAff
(P574) Summary of Findings from Comprehensive Genome Sequencing Performed in a Healthy Population Cohort
Wednesday, 4:00 pm - 11:59 pm
Selina Casalino, MSc, CCGC; Radhika Mahajan, MSc; Navneet Aujla, HBSc; Erika Frangione, MSc; Lochana Jayachandran, BSc; Saranya Arnoldo, PhD; Erin Bearss, MD, CCFP(EM); Alexandra Binnie, MD; Bjug Borgundvaag, PhD, MD, CCFP(EM); Howard Chertkow, PhD; Sunakshi Chowdhary, MSc; Marc Clausen, MA; Marc Dagher, MD; Luke Devine, MD; Brendan Dickson, MD; David Di Iorio, BSc; Chun Yiu Jordan Fung, BSc; Steven Marc Friedmen, MD, MPH; Anne-Claude Gingras, PhD; Lee W. Goneau, PhD; Simona Haller, BSc; Limin Hao, PhD; Deepanjali Kaushik, MCom, CCRP; Zeeshan Khan, RN; William Lane, M.D, Ph.D; Elisa Lapadula, BSc; Matthew S. Lebo, PhD, FACMG; Tiffany Lu, MSc; Georgia MacDonald, BSc; Tony Mazzulli, MD; Allison McGeer, MD, FRCPC; Shelley McLeod, MSc, PhD(C); Chloe Mighton, MSc; Gregory Morgan, MSc; Trevor J. Pugh, PhD; David Richardson, MD; Mackenzie Scott, BSc; Jared Simpson, PhD; Seth Stern, MD; Lisa Strug, PhD; Ahmed Taher, MD; Shilpa Thakur, BSc; Dawit Wolday, MD, PhD; Iris Wong, RN; Juliet Young, BSc; Natasha Zarei, RN; Elena Greenfeld, PhD, MD; Yvonne Bombard, PhD; Abdul Noor, PhD; Hanna Faghfoury, MD, FRCPC, FCCMG; Jennifer Taher, PhD; Jordan Lerner-Ellis, PhD; Romina Nomigolzar, BSc
(P028) Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease
Wednesday, 4:00 pm - 11:59 pm
Priya S. Kishnani, MD; Barry J. Byrne, MD, Prof; Kristl G. Claeys, MD, PhD; Paula R. Clemens, MD; Jordi Díaz-Manera, MD, Prof; Mazen M. Dimachkie, MD; Hani Kushlaf, MD; Tahseen Mozaffar, MD; Mark Roberts, MD, PhD; Antonio Toscano, MD, Prof; Noemi Hummel, PhD; Fred Holdbrook, PhD; Simon Shohet, PhD; Benedikt Schoser, MD, PhD
(P102) Systematic characterization of cancer ecosystem evolution
Wednesday, 4:00 pm - 11:59 pm
Solsa Cariba, MSc; Hong Han, PhD; Cole Nickason, BSc; Mikhail Salnikov, MSc; Fuad Chowdhury, MD; Kabir Siraj, BSc; Connor Clark-Baba, BSc; Vanshika Khaitan, BSc; Alberto Torrez, MSc; Sheila Singh, MD, PhD, FRCS(C)
(P584) Systematic review and reclassification of 20 years of RB1 single nucleotide and copy number variants
Wednesday, 4:00 pm - 11:59 pm
Niambi Brewer, PhD; Maria Limmina, MS; Lucas Martz, BS; Caitlin Monahan, MS; Arupa Ganguly, PhD
(P493) The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening.
Wednesday, 4:00 pm - 11:59 pm
Mia J. Gruzin, BMed(Hons); Leslie Burnett, MBBS, PhD, FRCPA, FHGSA; Matthew Hobbs, PhD; Sarah Poll, PhD; Jaysen Knezovich, PhD; Sienna Aguilar, PhD; Rachel E. Ellsworth, PhD; Nicole Faulkner, PhD, FACMG; Swaroop Aradhya, PhD FACMG
(P479) The Clinician-reported Genetic testing Utility InDEx: A Revised Tool to Quantify Genome-wide Sequencing Utility in Neonatal Intensive Care (C-GUIDE NICU)
Wednesday, 4:00 pm - 11:59 pm
Lena Dolman, MD, MSc; Elise Poole, MSc; Joyce Yan, BScH; Stephanie Luca, MA; Bowen Xiao, PhD; Wendy Ungar, MSc, PhD; Lauren Chad, MD; Martin Offringa, MD, PhD; Robin Z. Hayeems, ScM, PhD
(P788) The ADGRA2 Gene is Associated with Multiple Fetal Brain Anomalies in Humans
Wednesday, 4:00 pm - 11:59 pm
Karen Chong, MD,PhD; Johannes Keunen, MD, PhD,; Andrea Staines, MSc; Patrick Shannon, MD, FRCPC
(P155) The ClinGen framework for naming monogenic diseases
Wednesday, 4:00 pm - 11:59 pm
Courtney Thaxton, PhD; Leslie G. Biesecker, MD; Marina DiStefano, PhD, FACMG; Melissa Haendel, PhD; Emma Owens, BS; Ada Hamosh, MD, MPH; Sharon E. Plon, MD,PhD, FACMG; Heidi L. Rehm, PhD, FACMG; Jonathan S. Berg, MD PhD
(P595) The ClinGen Syndromic Disorders Gene Curation Expert Panel
Wednesday, 4:00 pm - 11:59 pm
Anne O'Donnell-Luria, MD, PhD; Ellie Broeren, BS; Alison J. Coffey, PhD; Syndromic Disorders Gene Curation Expert Panel, NA
(P614) The clinical genome: validation data beyond clinical exome
Wednesday, 4:00 pm - 11:59 pm
Kornelia Tripolszki, PhD; Melina Bilinski, MSc; Matthias Bieg, MSc; Anett Marais, PhD; Catarina Pereira, MSc; Javier Martini, MD; Mukunth Sadagopan, MSc; Divine Lawir Fondzenyuy, PhD; Swathi Chinnappa, MSc; Stephanie Weissgraeber, PhD; Thomas Hackenberg, PhD; Chris Junghans, PhD; Johannes Numrich, PhD; Krishna Kumar Kandaswamy, PhD; Jorge Pinto-Basto, MD; Peter B. Bauer, MD; Omid Paknia, PhD
(P482) The clinical utility of genome-wide sequencing for rare disease: A multidimensional map
Wednesday, 4:00 pm - 11:59 pm
Robin Z. Hayeems, ScM, PhD; Viji Venkataramanan, MSc; Katharine Fooks, BSc,MSc; Karen V. Macdonald, BSc, MPH; Trevor A. Seeger, MSc, MDSA; Taila Hartley, PhD, MSc, MSc, CCGC; Francois Bernier, MD, FCCMG, FRCPC; Kym M. Boycott, MD, PhD, FRCPC, FCCMG; Deborah A. Marshall, PhD
(P065) The Clinical Utility of Plasma Circulating Tumor DNA in the Diagnosis and Disease Surveillance in non-DLBCL non-Hodgkin’s Lymphomas
Wednesday, 4:00 pm - 11:59 pm
Minyi Zhu, BS; Xiaotian Zhao, MS; Yao Xiao, MS; Jiaohui Pang, PhD; Liuqing Zhu, PhD; Ruoying Yu, PhD; Qiuxiang Ou, PhD
(P547) The Clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing Content Validity for a New Measure for Sequencing-based Newborn Screening
Wednesday, 4:00 pm - 11:59 pm
Stephanie Luca, MA; Katharine Fooks, BSc,MSc; Elise Poole, MHSc; Amanda Pichini, MSc; Joanna Ziff, PhD; Katrina Stone, MD; Bowen Xiao, PhD; Salma Shickh, PhD; David Bick, MD, PhD; Pranesh Chakraborty, MD, FRCPC, FCCMG; Wendy J. Ungar, MSc, PhD; Robin Z. Hayeems, ScM, PhD
(P418) The diagnostic journey of Mexican patients with Verheij Syndrome
Wednesday, 4:00 pm - 11:59 pm
Karla Cifuentes-Uribe, MD; Alejandra Reyes-De La Rosa, MD; Rodrigo Moreno-Salgado, MD; America Villasenor-Dominguez, MD; Magdalena Ceron-Rodriguez, MD; Romina Viveros-Rodriguez, MSc; Vianney Cortes-Gonzalez, MD; Gilda Garza-Mayén, MD, MS
(P186) The Earliest Sign of Hypogonadotropic Hypogonadism: The Importance of Genetic Screening and Evaluation in Individuals with Microphallus
Wednesday, 4:00 pm - 11:59 pm
Jacqueline Leonard, MSc MS LCGC; Marissa Kilberg, MD; Maria G. Vogiatzi, MD; Chris Gibson, MD; Jason Van Batavia, MD; Leela Morrow, PsyD; Vaneeta Bamba, MD; Sara E. Pinney, MD; Christopher Gray, MS LCGC; Cara Skraban, MD; Kosuke Izumi, MD, PhD; Louise C. Pyle, MD, PhD
(P267) The Essential Role of Genetic Testing in the Phenotypic Heterogeneity of Stargardt Disease
Wednesday, 4:00 pm - 11:59 pm
Rithvik R. Nalamalapu, BS; Julie Bayer-Vile, MS, CGC; Christopher T. Leffler, MD, MPH; Katherine Peplow, MS, CGC; Jessica D. Randolph, MD; Natario Couser, MD
(P026) The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank
Wednesday, 4:00 pm - 11:59 pm
GEETHANJALI DEVADOSS GANDHI, PhD; Najeeb Syed, Dr, PhD; Fazulur Vempalli, Msc; Mona Abdi, PhD; Elbay Aliyev, MS; Navaneethakrishnan Krishnamoorthy, PhD; Chadi Saad, PhD; Hamdi Mbarek, PhD; Ramin Badii, PhD; Qatar Genome Program Research Consortium (QGPRC), Consortium; Ammira Akil, PhD; Tawfeg Ben-Omran, MD, FRCPS, FCCMG, FACMG; Khalid A. Fakhro, PhD
(P827) The Greenwood Genetic Center's approach to developing the future genetics workforce
Wednesday, 4:00 pm - 11:59 pm
Leta M. Tribble, PhD; Ashley LaVerdure, BS; Alyssa Labdon, BS; Haley Newton, BA
(P518) The impact of mainstreaming general genetic testing on patient wait-times
Wednesday, 4:00 pm - 11:59 pm
Andrea Guerin, MD, MEd; Rachelle Dinchong, MSc; Melanie Guy, BSc; Stefani Evans, BSc; Jasmine Nanji, BSc
(P417) The importance of genetic counseling for families with hyperinsulinism.
Wednesday, 4:00 pm - 11:59 pm
Victoria Sanders, MS; Diva D. De Leon, MD, MSCE
(P352) The Importance of Genetics Consultation Prior to Testing for a Successful Rapid Genome Sequencing Program.
Wednesday, 4:00 pm - 11:59 pm
Rosa Munoz Xicola, PhD; Emily Bistline, MS, CGC; Maya Galloway, MS, CGC; Allison Cox, PhD; Zakia IA. Abdelhamed, MBChB, PhD; Deqiong Ma, MD, PhD; Chen Zhao, PhD, DABMGG, FACMG; Daniel Dykas, BS; Allen E. Bale, MD; Hui Zhang, MD, PhD
(P882) The Long and Winding Road of Biomarker Legislation
Wednesday, 4:00 pm - 11:59 pm
Katlin Peck, MS, CGC, MBA; Jessica K. Pack, MHA, MS, LGC
(P524) The Mainstream Model Improves Equitable Access to Germline Testing for Veterans Affairs Patients with Advanced Prostate Cancer
Wednesday, 4:00 pm - 11:59 pm
Maren T. Scheuner, MD, MPH, FACMG; Paloma Sales, PhD; Katherine Hoggatt, PhD; Samuel Washington, MD; Barbara Lerner, PhD; Eva Ferino, MS; Morgan E. Danowski, MS, CGC; Michael M. Goodman, MD; Andrea J. Stoddard, MS, CGC; Emily E. Ziegler, MS, CGC; Tori Foote, MHA; Kerry Rowe, PhD; Gina McWhirter, MBA, MSN, RN; Christine Serway, PhD; Michael J. Kelley, MD
(P308) The Scope of Incorporating Preemptive Pharmacogenomics Testing for Public Healthcare
Wednesday, 4:00 pm - 11:59 pm
Joy Sheng, PhD; Serjio Rubio, BS; Nirmal Shende, BS; Sherry Dadgar, PhD
(P520) The Translational Genomics Hub (TGH): A New Precision Medicine Tool at the University of Alberta
Wednesday, 4:00 pm - 11:59 pm
Oana Caluseriu, Dr. Oana Caluseriu; Farah Hassan, BSc; Jamil A. Kassam, PhD; Chisom Ezeh, BSc; Tanya Voth, BSc; R T. Alexander, MD/PhD; Anjali Jain, MHSc
(P410) Think Beyond a Unifying Diagnosis – A Case of Dual Diagnoses of Klinefelter Syndrome and DYNC1H1-related Disorder
Wednesday, 4:00 pm - 11:59 pm
Eleni C. Fafoutis, BA; Torri Peck, BS; Ermal Aliu, MD; Suzan Rzucidlo, CRNP; Melissa L. Yelton, MGC, LCGC; Patricia L. Gordon, MD, MD, FAAP, FACMG
(P242) Tissue Specific Pathogenic NIPBL Variant causing Cornelia de Lange Syndrome: a Call to Clinicians
Wednesday, 4:00 pm - 11:59 pm
Lakshmi Mehta, MD FACMG; Yakira Begun, MS; May Sanyoura, PhD; Christine Stanley, PhD FACMG
(P855) Traceback testing for ovarian cancer: implementer and participant perspectives
Wednesday, 4:00 pm - 11:59 pm
Nora B. Henrikson, PhD, MPH; Alanna K. Rahm, PhD, MS, CGC; Paula R. Blasi, MPH; Tracey Leitzel, BS; Pim Suwannarat, MD; Adrienne Deneal, MS; Kathleen A. Leppig, MD; Aaron Scrol, PhD, MPH; Daniela Canedo, MPH; M. Cabell Jonas, PhD
(P328) Transcription factor HAND2 in syndromic congenital heart disease
Wednesday, 4:00 pm - 11:59 pm
Amanda Moccia, MS, PhD; Brandon Stone, MD; Liana Hernandez, MS; Scott E. Hickey, MD; Jesse Hunter, PhD, FACMG; Hui Mei, PhD, FACMG
(P038) Trimethylaminuria: Investigations of Patient and Healthcare Provider Experiences
Wednesday, 4:00 pm - 11:59 pm
Jillian S. Kirk, MS, CGC; Leighann Sremba, MS; Timothy Wood, PhD
(P129) Trio-Based Whole Exome Sequencing Reveals Novel Pathogenic Variants in TMPRSS7 Associated with Neurodevelopmental Disorders.
Wednesday, 4:00 pm - 11:59 pm
Shuyuan Li, PhD; Songchang Chen, PhD; Weiliang Lu, PhD; He-Feng Huang, MD; Chenming Xu, PhD; Jinglan Zhang, PhD, FACMG
(P769) Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies
Wednesday, 4:00 pm - 11:59 pm
Ariel Gershon, MD; Tanvi Anandampillai, MSc; Yiming Wang, MD, PhD, FRCPC; Nicole Martin, MSc, CGC, CCGC; James Stavropoulos, BSc, MSc, PhD, FCCMG; Abdul Noor, PhD; Elena Greenfeld, PhD, MD; Karen Chong, MD,PhD; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS; Stephen Meyn, MD, PhD; Maahil Arshad, BSc
(P802) Trisomy 22 with 80% Mosaicism: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Emily Root, MD; Kaitlyn Nunnelley, BS; Clare Batty, MD; Vanessa Brown, RDMS, RDCS; Edward Miller, MD; Scott Duncan, MD; Tiffany Tonismae, MD
(P266) Trisomy 5p: Long Recognized, Rarely Published
Wednesday, 4:00 pm - 11:59 pm
Gabriela Kim, BS; Kristen N. Lee, MD; Amanda B. Pritchard, MD, FACMG
(P542) Twenty years of newborn and carrier screening in the Old Order Amish population of Southwestern Ontario: evolution and evaluation.
Wednesday, 4:00 pm - 11:59 pm
Jamie A. Abbott, PhD, MS; Victoria Siu, MD, FRCPC, FCCMG; Anthony Rupar, PhD, FCCMG; Emma Reesor, MD; Jane Leach, RN; Cynthia Soulliere, RM, BASc, BHSc, MHSc; Wendy McCaul, BA
(P118) Two Cases of Angiocentric Glioma with MYB::QKI Fusion in a Single Institution
Wednesday, 4:00 pm - 11:59 pm
Deepak Kumar, MD; FNU Kiran, MD; Melissa Gener, MD; Alexander Kats, MD; Lei Zhang, PhD
(P783) Two Fetuses with Hereditary Hemorrhagic Telangiectasia Presenting with Rare Finding of Arteriovenous Malformations
Wednesday, 4:00 pm - 11:59 pm
Natalie Burrill, MS, LCGC; Christina Paidas Teefey, MFM; Nankee Kumar, MD; Sonika Agarwal, MBBS, MD, DNB, MNAMS; Lauren A. Beslow, MD, MSCE, FAHA; Edward R. Oliver, MD, PhD; Minh-Huy Le Huynh, MD; Elizabeth Goldmuntz, MD, FAAP, FACC; Bryan Pukenas, MD; Alexandra Borst, MD; Allison Britt, MS, LCGC; Arastoo Vossough, MD, PhD; Stephanie Fuller, MD; Shih-shan Lang Chen, MD; ERICA MA. SCHINDEWOLF, MS, LCGC; Lisa Pilchman, MS LCGC; Renee Wright, MS, LCGC; Haley Crane, MS, LCGC
(P332) Two Independent Molecular Diagnoses of Loeys-Dietz Syndrome in a Sibship and Their Children: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Tanner F. Coleman, MS, CGC; Jada Pugh, ScM, CGC; Emily R. Gordon, PhD; Stephanie A. Felker, PhD; Anna CE. Hurst, MD, MS, FACMG; Nadiya Sosonkina, PhD; Meagan E. Cochran, MS, CGC; Sara J. Cooper, PhD
(P499) U.S. Genetics Professional Workforce in 2023
Wednesday, 4:00 pm - 11:59 pm
Megan Lyon, MPH; Deborah Maiese, MPA; Rhonda West, MPH; Marci Sontag, PhD; Vivian Pan, MS; Cinthya J. Zepeda Mendoza, PhD; Joann Bodurtha, MD MPH, FAAP, FACMG
(P515) Uncertainty and information management for Lynch syndrome in a genomic screening cohort: connections to clinical engagement
Wednesday, 4:00 pm - 11:59 pm
Miranda LG. Hallquist, MSc, CGC; Brooke Delehoy, MS; Reem Bux, MS; Gemme Campbell-Salome, Ph.D., M.A.
(P111) Uncovering a Late Diagnosis: A Case Study on 22q11.2 Deletion in an Adult with Hypoparathyroidism
Wednesday, 4:00 pm - 11:59 pm
Steven A. Benyahia, BA; Meghan Kelly, BS, MSPH; Kareem Zuhdi, MS; Amarilis Sanchez-Valle, MD
(P743) Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray
Wednesday, 4:00 pm - 11:59 pm
Katherine Haines, PhD; Deborah M. Hazard, BS, CG(ASCP)CM; Billie Carstens, BS; Thomas M. Gilfillan, MBA, CG(ASCP)CM; Peter M. Brzeskiewicz, BS; Andrea Cortes Fernandez, MD; Chandra Perez-Gill, MS, CGC; Mikayla Stoecker, MS, CGC; Aaina Kochhar, MD; Mary M. Haag, PhD, FACMG; Hala Nijmeh, Ph.D., CG(ASCP)CM; Patricia Trevisan, Ph.D., CG(ASCPi)CM
(P877) Understanding the Advantages of Translating Educational Materials for the Clinical Genome Resource
Wednesday, 4:00 pm - 11:59 pm
Ineke Cordova, BA; Zo Bly, BA; Jonathan S. Berg, MD PhD; Joanna Bulkley, PhD; Marina DiStefano, PhD, FACMG; Teri E. Klein, PhD; Joannella Morales, PhD; Deborah I. Ritter, PhD; Erin R. Riggs, MSGC, CGC
(P842) Unified Comprehensive Analysis of NGS and Optical Genome Mapping Data for Constitutional Applications Using Bionano VIATM Software
Wednesday, 4:00 pm - 11:59 pm
Zachary K. Norgaard, MS; Mike Gallagher, MSc, MBA; Viren Wasnikar, MSc; Neil Miller, PhD; Alex R. Hastie, PhD
(P548) Universal Germline Genetic Testing for Breast Cancer at the Princess Margaret Cancer Centre
Wednesday, 4:00 pm - 11:59 pm
Larissa Peck, MSc, CGC; Maria Carolina Sanabria-Salas, MD, MSc, PhD; Sarah Ridd, BASc; Helia Purnaghshband, MD; C. Anne Koch, MD, PhD, FRCPC; Raymond H. Kim, MD, PhD, FRCPC, FCCMG, FACMG; Wes Morrison, BSc, MLT
(P644) Unlocking the Code: When SpliceAI Falls Short in Variant Assessment
Wednesday, 4:00 pm - 11:59 pm
Jessica Grzybowski, MS, CGC; Meghan C. Towne, MS, CGC, LGC; Brooklynn Gasser, MS; Melissa Samons, MS, CGC; Carolyn Horton, MS, CGC; Heather Zimmermann, PhD
(P045) Unraveling the Complexity of the COG Complex: A Case Report on a Severe Phenotype Presentation of COG8-CDG
Wednesday, 4:00 pm - 11:59 pm
Deepika Pugalenthi Saravanan, BS; Estrella Lizbeth Mellin Sanchez, M.D., FCCMG; Dustin Paul, M.D.
(P662) Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome
Wednesday, 4:00 pm - 11:59 pm
Deqiong Ma, MD, PhD; Gang Peng, PhD; Daniel Dykas, MBA; Allen E. Bale, MD; Hui Zhang, MD, PhD
(P471) Uptake of a Chatbot for Disclosure of Germline Genetic Test Results through a Universal Genetic Testing Program
Wednesday, 4:00 pm - 11:59 pm
Elyssa Zukin, MS, CGC; Bita Nehoray, MS; Michael Garcia, MSIT; Heather Hampel, MS; Marilan Luong, MPH; Chad Moretz, ScD; Sarah K. Savage, MS, CGC; Ilana Solomon, MA, ScM, CGC; Yi Xiao, MSc; Stephen B. Gruber, MD, PhD, MPH; Stacy W. Gray, MD, AM; Anish Raman, BS
(P027) Urine organic acid analysis as a potential screening test for aromatic L-amino acid decarboxylase deficiency: a retrospective investigation
Wednesday, 4:00 pm - 11:59 pm
Zinandre Stander, PhD; William J. Laxen, BSc; Perry Loken, BSc; Amy L. White, MS CGC; Patricia L. Hall, PhD; Matthew J. Schultz, PhD; Dimitar K. Gavrilov, MD, PhD; Dietrich Matern, MD, PhD, FACMG; Devin Oglesbee, PhD, FACMG; Silvia Tortorelli, MD,PhD
(P004) Urine Polyols for Diagnosis of Sorbitol Dehydrogenase (SORD) Deficiency-Related Peripheral Neuropathy
Wednesday, 4:00 pm - 11:59 pm
Amy L. White, MS CGC LGC; Jordan Bontrager, MS CGC; William J. Laxen, BSc; Perry Loken, BSc; Tiffany Grider, MS CGC; Josef A. Alawneh, MD; Vincent J. Carson, MD; Emily Lauer, MS, CGC; Angela M. Pickart, MS, CGC; Zhiyv Niu, PhD; Devin Oglesbee, PhD, FACMG; Dimitar K. Gavrilov, MD, PhD; Silvia Tortorelli, MD,PhD; Patricia L. Hall, PhD; Dietrich Matern, MD, PhD, FACMG; Michael Shy, MD; David Herrmann, MBBCh; Matthew J. Schultz, PhD
(P311) Use of a DNA Methylation Signature for the Diagnosis of TET3-Related Beck-Fahrner Syndrome and Expansion of its Related Phenotype
Wednesday, 4:00 pm - 11:59 pm
Alice Man, BSc; Matteo Di Scipio, BSc; Haley McConkey, MSc; Eric Diehl, PhD; Christian R. Marshall, PhD; Bekim Sadikovic, PhD; Resham Ejaz, MD; Rebecca Hough, MSc
(P545) Using Direct Messaging for Patient Engagement in Inherited Cancer Risk Management: A Pilot Intervention
Wednesday, 4:00 pm - 11:59 pm
Sarah H. Choi, MGCS, CGC; Kristen Hughes, MS, CGC; Annette Sereika, APN-C; Allison DePersia, MD; Henry M. Dunnenberger, PharmD; Peter J. Hulick, MD, FACMG
(P224) Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism
Wednesday, 4:00 pm - 11:59 pm
Carolina M. Montano, MD, PhD, FACMG; Luke Morina, BS; Elizabeth Wohler, MS; Winston Timp, PhD; Nara Sobreira, MD, PhD
(P779) Utility and Diagnostic Yield of Prenatal Skeletal Dysplasia Panel Testing
Wednesday, 4:00 pm - 11:59 pm
Jay Shaw, MS, CGC; Jamie Zdrodowski, MS, CGC; Kathryn Francis, MA; ZhenBin Chen, Ph.D, CGMBS, FACMG
(P763) Utility of Genetic Evaluation of Congenital Posterior Fossa Anomalies
Wednesday, 4:00 pm - 11:59 pm
Ingrid Lee, BA; Erica Schindewolf, MS, LCGC; Usha S. Appalaneni, MD; Laura J. Conway, PhD
(P625) Utility of Highest Pathogenic Variant Frequency Approach for Application of BA1/BS1 ACMG Criteria to Reduce Variants of Uncertain Significance
Wednesday, 4:00 pm - 11:59 pm
Kyle Salsbery, MS, CGC; Devin Oglesbee, PhD, FACMG; Zhiyv Niu, PhD; Angela M. Pickart, MS, CGC; Elizabeth Selner, MS, CGC; Emily Lauer, MS, CGC; Dawn S. Peck, CGC, LGC, MSGC
(P071) Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories.
Wednesday, 4:00 pm - 11:59 pm
Sarah M. Hamilton, MS; Lindsay Fosler, MS; Daniel E. Pineda-Alvarez, MD, FACMG; Britt A. Johnson, PhD; Keith Nykamp, PhD
(P645) Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series
Wednesday, 4:00 pm - 11:59 pm
Casie A. Genetti, MS, CGC; Pamela Barraza-Flores, PhD; Wanqing Shao, PhD; Sundos Al-Husayni, BS; Courtney French, PhD; Shira Rockowitz, PhD; Alan H. Beggs, PhD
(P786) Utility of Whole Exome Sequencing in Desperate Prenatal Patients
Wednesday, 4:00 pm - 11:59 pm
Zeynep Alpay Savasan, MD; Anne Heuerman, MS, CGC; Sam Gbur, MS, CGC
(P782) Validation of low-pass genome sequencing for prenatal diagnosis
Wednesday, 4:00 pm - 11:59 pm
Chloe Mighton, MSc; Abdul Noor, PhD; Nicholas Watkins, MSc, CGC/CCGC; Vanessa Di Gioacchino, MSc, CGC; Jordan Lerner-Ellis, PhD; Andrew Wong, MSc; Nina C. Anggala, BSc, MHSc candidate; David Chitayat, MD, FACMG, FCCMG, FRCPC, FCAHS; Elena Greenfeld, PhD, FCCMG, FACMG
(P687) Variant Classification Discrepancies in the ACADVL Gene
Wednesday, 4:00 pm - 11:59 pm
Alexa Dickson, PhD; May J. Flowers, BS; Marcus J. Miller, PhD; Elaine Spector, PhD; Gregory M. Enns, MD; Heather Baudet, MD, PhD; Marzia Pasquali, PhD; Lemuel J. Racacho, PhD; Kianoush Sadre-Bazzaz, PhD; Ting Wen, PHD MBBS; Melissa Fogarty, PhD; Raquel Fernandez, BS; Meredith A. Weaver, PhD; Annette Feigenbaum, MBChB, FRCP, DABMG; Brett H. Graham, MD, PhD; Rong Mao, MD
(P011) Variant Interpretation in Functionally Defined Patients: Lessons from methionine synthase deficiency (cblG)
Wednesday, 4:00 pm - 11:59 pm
David S. Rosenblatt, MDCM; Caitlin Zacharias, PhD; David Watkins, PhD; Jean-Baptiste Riviere, PhD; Brian M. Gilfix, MD, PhD; Krithika Ragupathi, BSc; Kyana Arbabian, DEC
(P091) Variants at Variance: An Assessment of Discordant Classifications and Phenotypes among TP53 Variants from the International LiFT UP Study
Wednesday, 4:00 pm - 11:59 pm
Alison Schwartz Levine, MS; Bita Nehoray, MS, CGC; Sophie Cahill, BS; Aleck Cervantes, MS; Megan N. Frone, MS, CGC; Christopher I. Amos, PhD; Stephen B. Gruber, MD, PhD, MPH; Judy E. Garber, MD, MPH
(P404) Variants of Uncertain Significance in Genes Associated with Inherited Connective Tissue Disorders Pose Unique Challenges
Wednesday, 4:00 pm - 11:59 pm
Allison Mazzella, CGC; Isaac F. Elysee, CGC; Laura Hennessy, CGC; Anna Raper, CGC; Theodore G. Drivas, MD, PhD; Staci Kallish, DO; Stephanie B. Asher, CGC
(P289) Vitreoretinopathy is common in children with CTNNB1 mutations.
Wednesday, 4:00 pm - 11:59 pm
Emma Bedoukian, MS; Drew Scoles, MD PhD
(P320) When to Consider Genetic Testing in Infants with Hip Dysplasia
Wednesday, 4:00 pm - 11:59 pm
Torri Peck, BS; Eleni C. Fafoutis, BA; Susan E. Rzucidlo, MSN, CRNP; Ermal Aliu, MD; Patricia L. Gordon, MD, MD, FAAP, FACMG
(P291) Where are All the Kids With Fragile X Syndrome? A Retrospective Study of the Diagnostic Odyssey in Georgia
Wednesday, 4:00 pm - 11:59 pm
Paige Black, BA, MMSc candidate; Matthew B. Walsh, MMSc, CGC; Lauren Lichten, MS, CGC; Hailey A. Dennis, MMSc, CGC; Michael J. Gambello, MD, PhD, FACMG
(P127) Where Epigenetics,Cancer and Hypoxia meet
Wednesday, 4:00 pm - 11:59 pm
Veronica Abraham, MD, MPH; Amir Radfar, MD,MPH,MSc,DHSc; Maria Ferreira Caceres, MD; Irina Filip, MD; Gabriela Parcurar, MD; Andres Mora Caceres, MD; Akhil Sureen, MD; Melissa Pereau, MD
(P157) Willing but not (quite) ready: primary care provider perspectives on expanded genetic screening in children
Wednesday, 4:00 pm - 11:59 pm
Elizabeth Branch, MS; Neal deJong, MD; Samantha Schilling, MD, MSHP; Jonathan S. Berg, MD PhD; Laura V. Milko, PhD; Sabrina N. Powell, PhD; Ann Katherine M. Foreman, MS; Megan C. Roberts, PhD; Katrina Donahue, MD, MPH
(P563) With great panels comes great responsibility- in pursuit of a well-evidenced age-based genomic screen
Wednesday, 4:00 pm - 11:59 pm
Ann Katherine M. Foreman, MS; Jahnelle Jackson, BS; Laura V. Milko, PhD; Elizabeth Branch, MS; Neal deJong, MD; Heidi Cope, MS, CGC; Jessica E. Hunter, PhD; Elizabeth R. Jalazo, MD; Julianne M. O'Daniel, MS; Holly L. Peay, PhD, MS, CGC; Bradford C. Powell, MD, PhD, FACMG; Cynthia M. Powell, MD, MS, FACMG; Jonathan S. Berg, MD PhD
(P502) Workflow Evaluation of Individuals for Abnormal Newborn Screens in the Era of Workforce Shortage: Experience From Two Academic Centers
Wednesday, 4:00 pm - 11:59 pm
Yuri Zarate, MD; Maria Silva, MD; Angela Crutcher, NP; Kirsten Havens, BSN, RN; Angelica Arriaga, BSN; Erica Carlson, BSN; Karen Becker, BSN; Emily Barnier, BSN; Molly Hegner-Lewis, BSN; Linzi Brandenburg, BSN; Candace Adams, BSN; Joshua Baker, DO, FAAP, FACMG; Carlos Prada, MD
(P439) Yet Another Neurodevelopmental Single Gene Disorder: G3BP1-Related Disorder
Wednesday, 4:00 pm - 11:59 pm
Kate Richardson, MS, CGC; Hope Northrup, MD, FFACMG
(P790) Yield of exome sequencing in congenital brain malformations identified on fetal MRI
Wednesday, 4:00 pm - 11:59 pm
Olivier Fortin, MD; Anne Lawrence, CGC; Kate Cilli, CGC; Wendy Ho, CGC; Jamie L. Fraser, MD, PhD, FACMG; Jason W. Schroeder, MD
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