ePosters
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P044)   Congenital Erythropoietic Porphyria – Disease Recurrence after Hematopoietic Stem Cell Transplantation

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P262)

Assessing Urolithiasis Polygenic Risk Score Predictive Performance Across Black and White Population Groups: Insights from the All of Us Database
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P624)

Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P431)

Respiratory distress in the setting of a right diaphragmatic eventration in a newborn with a pathogenic FLNA gene variant 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P110)

Case Report of APC Promoter 1B Deletion Associated with Classic FAP

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P297)
More than an extra chromosome: unexpected multiple diagnoses in individuals with Down syndrome

Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P833) A novel cardiac genetic knowledge scale:  Development and evaluation of face validity and concept validity
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P098) CHEK2 Variants Contributing to Hereditary Breast Cancer in Pakistan: A Tertiary Healthcare Centre Experience
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P143) Clinical Investigation of Bleeding Diatheses in Patients with Hermansky-Pudlak Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P428) De novo Truncating Variants in ZNF865 – a Putative Cause of a Neurodevelopmental Disorder

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P075) HMGCR expression in BCC and adjacent non-malignant skin
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P661) JAK2 Exon 12-15, CALR and MPL Essential MPN NGS Panel

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P233) PKD1 Hypomorphic Variant in a Girl with Tuberous Sclerosis Complex and Polycystic Kidneys
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P711) PMS2 in Somatic Oncology Testing – Real or Pseudogene interference?

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P089) POLE AND Brain Tumors- Case Report and Review of the Medical Literature
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P283) SATB1-Related Disorder Secondary to Chromothripsis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P731) TERT Gene Promoter Region Mutation Analysis in Glioma Using Multiplex SNaPshot® Method

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P066) TP53 Variant Characteristics and Phenotypes of 96 Families Evaluated at an Academic Medical Center
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P257)  Sleep Correlates of Behavior Functioning in Cornelia de Lange Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P582) CSMD1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P189) Drosophila Modelling Reclassifies VoUS in EED and PRC2 Members: Relevance for Clinical Interpretation and Rare Variant Burden Testing in Populations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P458) EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P719) SMN1 deletion and silent carrier screening for Spinal Muscular Atrophy

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P280) Expansion of TAOK1 Related Developmental Delay Phenotype
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P062) A case of Ornithine Transcarbamylase Deficiency

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P839) A curated research catalogue of structural variation detected by optical genome mapping
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P013) A Long-term Disease Monitoring Program in Patients with Long-chain Fatty Acid Oxidation Disorders

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P398) A Rare Report of a Child with Mosaic Trisomy 4
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P104) A Single-Center Perspective on Glioma Epidemiology from 2018-2023 in the Middle East

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P648) A validation study using droplet digital PCR to identify copy number changes at complement factor H related gene regions

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P046) ACMG/AMP Variant Classification Framework in Arginase 1 Deficiency:

Implications for Birth Prevalence Estimates and Diagnostics

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P477) Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P100) BCR/ABL1 p230 Transcript in B-lymphoblastic Leukemia/Lymphoma: A Case Report

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P146) BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P599) Beyond Single Nucleotide Variants and Copy Number Variations: Spinal Muscular Atrophy and Repeat Expansion Disorders Screening by Whole Genome Sequencing



 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P678) Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P322) Case report: A splice site variant in COL4A6 may cause recurrent stroke

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P631) Case Report: Haploinsufficiency of the HMGB1 Gene Causes 13q12.3 Microdeletion Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P375) Case Study: Germline Chromoanagenesis Associated With Global Developmental Delay, Dysmorphic Features and Failure to Thrive
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P814) Cases of survivorship: prenatal counseling for double heterozygosity in skeletal dysplasia
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P162) Changes of café-au-lait spots intensity by selumetinib in neurofibromatosis type I 

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P663) Characterization of Epstein-Barr Virus-associated smooth muscle tumor in an immunocompromised patient

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P182) Characterization of Neurocognitive Differences between Mosaic and Non-Mosaic Pediatric Turner Syndrome Patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P362) Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P689) Classification of TP53 Non-Synonymous Sequence Variants Using Structural and Molecular Dynamic Simulation Analyses.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P133) CNS hemangioblastoma in pediatric patients with von Hippel–Lindau disease: When to start surveillance.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P863) Colombian Pacific genetics initiative: a project for the diagnosis and research of genetics rare disease.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P736) Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient with Aplastic Anemia

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P623) Cytogenetic Findings in a Clinical Next Generation Sequencing Panel for Very Early Onset Inflammatory Bowel Disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P818) Data from electronic healthcare records expands our understanding of X-linked genetic diseases
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P252) Development of a scoring system to define lysosomal diseases

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P451) DIGENIC INHERITANCE OF PATHOGENIC VARIANTS IN DICER1AND CACNA1I CAN PRESENT AS GLOW SYNDROME
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P285) Double Somatic Mosaic for Pathogenic Variants in PIK3CA and GNAQ

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P691) Elevating Pharmacogenomics: A Tailored In-House Solution for Empowering Accurate Clinical Decision Support

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P137) Engaging Participants in Data Sharing Enables Exploration of Dual Diagnoses
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P713) Estimating the prevalence of de novo monogenic disorders from gnomAD database

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P138) Evaluating the impact of gnomAD v4 on genetic prevalence estimates
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P300) Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping features with KAT6A Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P799) Experiences with an Adult Reproductive Clinical Genetics & Genomics Clinic: Insights and Opportunities
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P430) Genetically-determined variants lead to to neuronal hyperexcitability and clinical psychosis/catatonia: case series.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P263) Genotype-Phenotype Associations in CASK Disorders: A Systematic Literature Review and Report of Three Cases
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P825) GENYSIS: a novel core facility for clinical evaluation of research genomic sequence
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P875) Home-Based Call:  Description of the Sleep Impacts on Geneticists and Metabolists and Creation of RareCap, a Workforce Support Innovation



 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P609) Improving Genome Diagnostics of Hemiplegic Migraine
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P082) Increased Risk of Hematolymphoid Neoplasms in Individuals with Heterozygous Deletion of a Fanconi Anemia Gene

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P061) Inherited Genetic Markers for TemporoMandibular Disorder (TMD) Pain in PolyCystic Ovary Syndrome: Identifying Novel Therapeutic Targets.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P193) Inpatient genetics consults for nondysmorphic children: characteristics, testing patterns and diagnostic yield.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P366) Kidney cysts: potential underrecognized phenotype of Coffin-Siris syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P341) Less Than One in a Million: Double Homozygosity for F2 and F5
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P293) Long Read Sequencing Analysis of 120 Samples with Known and Challenging-to-Detect Clinical Variants

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P821) Long-read sequencing resolves CYP21A2 alleles in Congenital Adrenal Hyperplasia

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P722) Low- Level Large Deletions in Mitochondria Genomes: A Potential Diagnosis of Mitochondrial Diseases
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P476) Marfan Syndrome Evaluation: Improving Access through an Alternative Care Delivery Model
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P387) Missense Variants in SRCAP; Expansion of Phenotypic Manifestations Associated with non-FHLS SRCAP-Related Neurodevelopmental Disorder
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P055) Mitochondrial 3‐Hydroxy‐3‐Methylglutaryl‐CoA Synthase Deficiency Presenting with Involuntary Choreiform Movements and Dystonia

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P702) Mosaic Monosomy/Partial Trisomy 13 Resulting from an Unstable Ring Chromosome in A Child with Multiple Congenital Anomalies and Developmental Delay
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P331) Multiomic Approach to Diagnosis, A Case Study in the Undiagnosed Diseases Program
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P223) Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe Platform
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P290) Neonatal encephalopathy: Identification of underlying genetic causes

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P858) Optimism and pessimism about genome sequencing in pediatric health care: Preliminary findings in the BabySeq Project
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P852) Optimizing RNA Isolation Methods for Gene Expression Detection and Generation of Quality Transcriptome Sequences from FFPE Cardiac Tissue

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P001) Outcomes In 14 Live Births Resulting From Pegvaliase-Treated Pregnancies In Females With PKU
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P303) Population Prevalence of Sex Chromosome Trisomy Varies by Genetic Ancestry
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P551) Provider perspectives on genomic care in safety-net neonatal intensive care units
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P716) Real-world Implications of New Population Genomic Datasets for Clinical Variant Interpretation

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P344) Renal Failure in an Infant with PAX2 Whole-Gene Duplication
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P090) Results from The Genetic Risk Analysis In Ovarian Cancer (GRACE) Study

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P218) SMAD6 Variants in Congenital Heart Disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P657) Structural Variants Identified by Short-read Genome Sequencing Solves Missing Heritability in Retinal Dystrophies

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P179) The ClinGen Pharmacogenomics Working Group: Developing Frameworks for Evaluating Pharmacogenomic Gene Validity and Actionability
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P717) The Landscape of Clinical Geneticists’ Perspectives and Practices in India
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P586) The qMini Assay Identifies an Overlooked Class of Splice Variants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P575) The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P154) The Second Known Case of CNP-related Hypomyelinating Leukodystrophy is Diagnosed by RNA-seq and Demonstrates an Abnormal Blood Methylation Profile

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P579) Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P279) Triple Diagnosis of X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs syndrome in a Male Infant via Rapid WGS
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P679) Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P695) Uncertainty in Interpretation of GAA Variants Detected Through Newborn Screening without Clinical Manifestation of Pompe Disease

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P643) Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P603) Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P097) Validation of a clinical test for Genome-wide Homologous Recombination Deficiency Signatures in Solid Tumours
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P649) Variant +7/-10 copy number alterations and their association with pathological features and prognosis in patients with Glioblastoma

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P054) When to look for Homocystinuria: preliminary results from HCU network America’s patient surveys.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P343) Skeletal Anomalies in RAD21-Associated Cornelia de Lange Syndrome: Two Additional Cases
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P176) 20,000 Type 1 Diabetes (T1D) Exome Cohort In Ukraine
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P468) 22q11DS with maternal mosaic nonoverlapping isodicentric 22q11 duplication
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P754) 2q22.1q22.3 microdeletion – a case report and literature review
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P452) A 33-year-old male diagnosed with Pitt-Hopkins Syndrome: The Spectrum Broadens
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P397) A Case of Congenital Myasthenic Syndrome with AChR Deficiency due to Biallelic Variants in CHRNE Gene
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P407) A Case of Homozygous LMNA c.991C>T (p.Arg331Trp) Laminopathy with Predominant Cardiomyopathy.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P890) A Children’s Rights Framework for Personalized Medicine – Solutions to Healthcare Equity by Pivoting to Newborn Screening and Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P116) A Clinical Algorithm to Guide Mainstreaming in Pediatric Oncology in Quebec
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P759) A Clinical Laboratory Experience with a 787-gene Carrier Screening Panel: Comparing Tier 3 and Tier 4 Outcomes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P483) A Comprehensive Study of Spinal Muscular Atrophy Testing Referrals’ Data Among the Iranian Population Since 2006

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P510) A Descriptive Analysis of Genetic Factors Identified in 100% Pediatric Mortality Review 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P067) A Descriptive Study of the Phenotype in Individuals with a Pathogenic/Likely Pathogenic Intronic Variant Discovered by RNA Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P834) A Genetic Counselors Watchlist: Framework for Gene Discovery
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P248) A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P486) A Global Delphi Consensus Approach to Monitoring and Integrated Care Coordination of Patients with Alpha-Mannosidosis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P860) A Health Systems Framework to Advance Equity in Medical Genetics Policy and Practice 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P412) A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with Dystrophinopathy
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P329) A homozygous start-loss mutation in TERF1 causes a syndrome associated with long telomeres
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P797) A Likely Pathogenic Variant of PBX1: Abnormal renal morphology and multiple cardiac anomalies identified by fetal ultrasound
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P562) A Model for Genetic Counselor Result Triage in a Busy Pediatric Neurology Division
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P749) A Newly Created Database to Improve the Process of Variant Reclassification for a University-based Hospital Laboratory
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P200) A Novel 13q31.3q32.3 Deletion Identified on Follow Up of an Inconclusive Prenatal Cell-Free DNA Screening for Trisomy 13
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P441) A Novel Candidate Gene for Syndromic Bone Marrow Failure: Haploinsufficiency of SETMAR in a Child with Severe Aplastic Anemia

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P363) A Novel Case of Coffin-Siris Syndrome due to Duplication in 6q25.3
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P436) A Novel Pathogenic Variant in NALCN Gene in a Newborn with CLIFAHDD Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P446) A novel SLC9A6 variant identified in an autistic boy with epilepsy- Christianson Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P314) A Novel STAG1 Variant Causing Developmental Delay, Failure to Thrive, Hypotonia, and Recurrent Infections

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P549) A novel team approach to evaluating and counselling children with variants of uncertain significance on microarray  

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P374) A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric acidemia III
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P330) A Novel WARS2 Variant Impacting Dimerization in Trans With a Recurrent Pathogenic Variant in a Child With Features of NEMMLAS
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P376) A Pediatric Patient with a Novel Duplication of 1q21.2 to 1q25.3: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P140) A Rare Phenomenon: Double Trisomy Rescue Detected During Clinical SNP Microarray Testing



 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P079) A recurrent POT1 Germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P445) A Sotos syndrome case report: Describing the complex work-up following a variant of uncertain significance in the NSD1 gene
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P698) A Streamlined Testing of Mosaic Maternal Isodicentric Supernumerary Chromosome 15q11.2q13 [idic(15)]

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P459) A variant in KIF4A segregating with an X-linked ocular and neurodevelopmental phenotype in a multigenerational family
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P217) Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P801) Abortion preferences of patients with abnormal prenatal genetic diagnosis in an access-restricted state
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P850) Accelerated Optical Genome Mapping Analysis with Stratys Compute and Guided Assembly
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P052) Acute Liver Failure in a Toddler with Known Classic Galactosemia Due to Exposure to Lactaid Milk
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P369) Acute Lymphocytic Leukemia in a Child with Beckwith Wiedemann Syndrome: Coincidence or related to loss of CDKN1C function?

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P085) Addition of new Variant Classes to the CIViC data model
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P707) Additional Evidence Supporting and Expanding the Phenotype Associated with MED12L Loss-of-Function Variants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P753) Additional Significant Findings in Individuals with Ashkenazi Jewish Founder Variants

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P840) Advantages of long-read sequencing in clinical genomics: A pilot study on ataxia patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P348) Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian Diseases

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P438) AGTPBP1-related Neurodevelopmental and Movement Disorder in a Child with Ataxia and Developmental Delays
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P371) Alternative Diagnoses of PHACES Syndrome with Overlapping Features
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P792) Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P640) Amplification and Long-Read Sequencing of the Mitochondrial Genome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P432) An Adult with Kagami-Ogata Syndrome Misdiagnosed as Freeman-Sheldon: The Importance of Genetics Follow-up
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P409) An Alpha-mannosidosis journey to the diagnosis: A case report and literature review
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P323) An atypical presentation in a child with PTPN11 Noonan syndrome due to TRIO-related neurodevelopmental disorder
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P442) An Atypical Presentation of 17q12 Recurrent Deletion Syndrome Resulting in the Misdiagnosis of Meckel-Gruber Syndrome: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P170) An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P718) Analytical Validation of a Comprehensive Targeted DNA Sequencing Panel for Hematologic Malignancies

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P465) Aplasia cutis congenita associated with trisomy 21, a unique presentation in a 5-month-old female
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P390) Assessing and addressing the burden of VUSs within adult medical genetics practices
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P497) Assessing Comfort Levels in Emergency Medicine Physicians When Managing Inborn Errors of Metabolism
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P072) Assessing the characteristics associated with carriers of the CHEK2 S428F variant
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P685) Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories.  
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P405) Association Between Weiss-Kruszka Syndrome (WSKA) and Obesity 

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P281) Atypical Maternally Inherited CDKN1C Variant Causing IMAGe Syndrome in a Newborn
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P354) Automated Reanalysis of Clinical Genetic Test Results: High Variant Reclassification Rate
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P776) Autosomal recessive cutis laxa type 1B in two successive pregnancies due to a novel homozygous EFEMP2 variant

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P240) Back to Basics: Diagnosis of Lesch-Nyhan Syndrome in a Female via Karyotype Analysis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P377) Biallelic variants of uncertain significance in a newborn with Generalized Arterial Calcification of Infancy
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P651) Bleeding Complications in Pregnant Carriers of Factor IX and Factor XI Ascertained Through Carrier Screening
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P443) Blepharophimosis-Intellectual Developmental Disorder Syndrome, First Reported Case in Hispanic population

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P741) Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P869) Building an Equitable Network to Study Genetic Risk of Severe Acute Malnutrition in Multiple African Populations

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P761) Calculating Maternal Polygenic Risk Scores from Prenatal Screening by cell-free DNA Data
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P033) Cardiac Manifestations of Fabry Disease: Insights from a Clinic Population through Cardiac Magnetic Resonance Imaging
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P326) CARDIOVASCULAR FEATURES IN ADULT INDIVIDUALS AFFECTED WITH TATTON-BROWN-RAHMAN SYNDROME
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P681) Carrier Screening with the ACMG 113: An Early Look and New Insights
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P696) Case Presentation: Co-segregation of a Rare GLA Variant of Uncertain Significance within 2 Multiplex Families Facilitates Variant Reclassification to Pathogenic 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P810) Case Report: Incidental Diagnosis of Lynch Syndrome by Prenatal Microarray

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P694) Case Report: Unraveling a Complex Chromosomal Rearrangement Case Using Optical Genome Mapping
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P165) Challenges and Errors in Selecting the Most Appropriate Clinical Genetic Testing

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P246) Challenges in Establishing Best Practices for Gene Therapy Informed Consent for Hemophilia A/B
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P751) Challenges in Interpretation of RNA-Seq Data Limit Variant Reclassification
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P025) Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P074) Characterization of complex hereditary cancer associated germline variants with long read sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P686) Characterization of Usher syndrome cell line genotypes and investigation of novel microRNA biomarkers using microRNA microarray and droplet digital PCR

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P153) Characterizing the Spectrum of CACNA1A-Related Disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P705) ChIP-DIP: A Highly Multiplexed Method for Mapping DNA-Associated Proteins to Study the Epigenomic Landscape
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P334) Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P396) Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P150) ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P633) Clinical and Genetic Findings of >3,900 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P357) Clinical and Genetic Profiling of Cleidocranial Dysplasia: A Comprehensive Study of 28 Korean Patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P084) Clinical Integration of Potential Germline Findings from a Tumour Testing Precision Medicine Program 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P003) Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P708) Clinical laboratory quality system enhancement addressing acquired loss of chromosome Y
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P601) Clinical Utility of MS-MLPA for the Diagnosis of Prader-Willi/ Angelman Syndrome: the GGC Experience
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P768) Clinical Utility of Prenatal Exome Sequencing: Insights From a 10-year Cohort
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P626) Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P757) Clinical Utility of the 2021 ACMG Gene Tiers in Expanded Carrier Screening 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P555) Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P750) Clinical Validation of Transcriptome Analysis for the diagnosis of Mendelian Disorders

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P672) Commercial Cystic Fibrosis Carrier Screening Tests and Coverage of the ACMG 100 Recommended Variants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P560) Community-Oriented Genetics: Establishing A New Pediatric Genetics Clinic in The Muslim-Arab City of Tayibe, Israel
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P829) Comparative medical genetics to facilitate the interpretation of rare missense variation
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P898) Comparing basic genetics knowledge between medical school students in Ecuador and students in the USA

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P447) Comparing Parental Perspectives of Raising Children Affected with Inherited vs. De Novo Marfan Syndrome 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P581) Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P350) Comparison of hEDS and HSD in a Pediatric Population 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P119) Comparison of Two Cases With the Same APC Genotype and Different Phenotypes  
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P080) Comprehensive Overview and Analysis of a Longstanding Pediatric Cancer Genetics Program
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P721) Computational Tool Performance Across BRCA1: A Case-Control Informed Analysis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P778) Congenital Brain Malformations in TPK1-related Disorder – A Novel Severe Phenotype
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P327) Congenital Disorder of Glycosylation Type IIa with a Novel Phenotype of Bilateral Congenital Glaucoma
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P421) Connecting Features in a Patient with Supernumerary Ring Chromosome 1
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P114) Considering Cancer Risk in a Patient with CDH1-associated Blepharocheilodontic Syndrome (BCD1)

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P538) Curious But Cautious: Patients’ Preferences for All Types of Clinically Actionable Genomic Incidental Results
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P676) Deciphering the Collagen Code: Navigating Variant Curation Complexities in Skeletal Disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P302) Decoding Genetic Orchestration: Understanding the Cellular and Molecular Mechanisms of the Hematopoietic Failure in Fanconi Anemia

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P440) Decoding the GANAB Enigma: Novel Insights into Pediatric Cystic Kidney Disease

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P454) Deletion of exons 10 and 11 in FGFR2: mother and daughter with sagittal craniosynostosis and micrognathia.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P058) Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P830) Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P571) Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P125) Detection of pancreatic cancer in liquid biopsies using integrative fragmentomics
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P593) Detection of Single-Gene Copy-Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P544) Developing a Health Human Resource Funding and Clinical Oversight Model for Genetic Services: The Ontario Approach
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P171) Developing an Approach to Screening Rare Genetic Diagnoses for Amenability to Bespoke Genetic Therapy Development

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P642) Development and Deployment of Clinical Genome Sequencing using a Cloud-Based Platform
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P541) Development of a Provincial Genetics Program in Ontario

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P646) Development of an affordable rapid human genome sequencing assay using long read PromethiON 2   
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P532) Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P237) Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: Findings from a Twin Case 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P241) Diagnostic Delays in ATP1A3 Disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P589) Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P832) Discovering phenotype-gene correlations using Variant WorkBench
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P273) Discovery of a germline EZH2 variant reveals Weaver syndrome during sequencing of a B-cell acute lymphoblastic leukemia (B-ALL)
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P893) Disparities in Pediatric Exome Sequencing Outcomes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P740) DMD or not DMD?  Clinical Genome Sequencing in the Interpretation of Complex Copy Number Gains
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P564) Doing no Harm: Exploring the Psychosocial Impacts of Receiving Secondary Findings from Whole Exome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P123) Donor-Cell Derived Hematological Neoplasm: Case Presentations of a Complex and Rare Event

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P113) Double Trouble: Unraveling the Clinical Challenges of Dual Pathogenic Variant Carriers in Hereditary Cancer Predisposition Genes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P346) DTC-GT Case Scenarios: Comparing ChatGPT Answers to an Approach Developed by Genetics Health professionals
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P748) Duplication of 12q24.11-q24.31 in a patient with Noonan-like features 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P791) Effectiveness of expanded carrier screening and prenatal ultrasound in identifying disorders among consanguineous couples
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P795) Effectiveness of expanded prenatal carrier screening among consanguineous couples of Afghan descent
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P048) Effects of liver-specific SHMT2 deletion on amino acid levels in mice
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P393) Elevated Prevalence of ACMG Medically Actionable Variants in Women with Mayer-Rokitansky-Küster-Hauser Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P864) Employees’ views and healthcare utilization following employer-sponsored pharmacogenomic testing at a large US healthcare system
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P587) Enhancing Data-driven Disease Detection in Newborns (ED3N): Designing a model to Improve Newborn Screening Risk Assessment
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P528) Enhancing Physician Support for Genetic Testing in Familial Hypercholesterolemia with a Comprehensive SmartSet
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P151) Enhancing understanding of SCN1A-related disorders through phenotype harmonization
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P429) Epidemiological Assessment of Autosomal Recessive Founder Mutations in the Canadian Mennonite Population
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P568) Evaluating family-centered care in Pediatric Orthopedics at BC Children’s Hospital: parents’/caregivers’ perspectives  

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P826) Evaluating HLA allele-disease associations in ClinGen: Development of a new curation tool
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P889) Evaluating Social Influences on Blood Phenylalanine Levels in Phenylketonuria Patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P253) Evaluating The Clinical Diagnostic Yield of Fragile X and Chromosome Microarray Testing for Patients with Autism and/or Intellectual Disability 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P527) Evidence-Based Methodology for Developing Coordinated Genetic Service Recommendations in Ontario
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P591) Examining Likely-somatic Variants in Cancer Susceptibility Genes Identified Through Germline Multigene Panel Testing

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P254) Exome Sequencing as a first-tier approach for rare forms of syndromic hearing loss. 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P149) Exome sequencing vs chromosomal microarray for copy number variant detection

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P247) Expanded Phenotype & Pathogenesis of the Novel TFE3-Related Lysosomal Disorder

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P275) Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: clinical considerations for neonatal care and genetic counseling

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P319) Expanding the Phenotype of EIF3F-related Neurodevelopmental Disorder
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P345) Expanding the phenotype of an ultra-rare neurodevelopmental disorder associated with NACC1 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P400) Expanding the Phenotype of NAA10 Related Ogden Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P426) EXPANDING THE PHENOTYPE SEEN IN SPEG-RELATED CONGENITAL MYOPATHY
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P180) Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P295) Expanding the Prenatal Phenotype of a Rare Syndrome Due to Variants in DPH1

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P132) Expansion of the IRF2BPL-related disorder phenotype: initial updates from natural history study
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P043) Experiences with VLCADD in the Old Order Amish Community

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P294) Exploring Episignatures as a Potential Diagnostic Tool for Diabetic Embryopathy 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P565) Exploring genetic testing for rare disorders of obesity: Experience and perspectives of pediatric weight management providers

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P213) Exploring heterogeneity among gene lists proposed for newborn sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P022) Exploring Preanalytical Factors Impacting Plasma cell-free miRNA-451 Levels
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P049) Exploring the Landscape of Phenylketonuria Education and Learning Needs of Genetics Trainees
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P041) False Positive VLCAD Deficiency Screening: Proposed Effect of Testosterone
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P236) Familial Russell-Silver Syndrome: Hypomethylation of Imprinting Center 1 in Two Siblings 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P287) Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P338) Far from Futile: The Value of Perimortem Rapid Exome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P878) Federal Legislation Related to the Genetics Service Delivery System: 2023 Trends
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P773) Fetus with Cole-Carpenter Type 2 Presenting with Novel Neonatal Lethal Skeletal Dysplasia

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P221) Fibrodysplasia Ossificans Progressiva (FOP): The Patient Experience
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P606) Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P673) Four Cases of unbalanced (Xq28 / Yq12):autosome translocation identified by chromosomal microarray analysis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P199) Frequency of secondary findings and returning these results by self-reported race/ethnicity in SPARK
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P353) From Hypoplasia to Aplasia of the Trigeminal Nerve: A Recurring Feature in the Diganosis of Gomez-Lopez-Hernandez Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P163) Functional Assessment of IGF-1 and hGH as candidate treatments for Phelan-McDermid syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P664) Functional Genomic Studies Resolve an OTUD6B Deep Intronic Variant Causing Isoform Imbalance
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P674) Gene Variant Spectrum in Probands with Familial Exudative Vitreoretinopathy

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P871) Genetic Insight, Social Impact: Transforming Care through Sotos Syndrome Diagnosis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P602) Genetic Modifiers As a Basis For Phenotypic Variability in Mosaic Trisomy 8

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P556) Genetic Providers’ Views on Trauma-Informed Care in Genetics Clinics
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P622) Genetic results in a cohort of 489 patients with inherited myopathies
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P010) Genetic testing is incompletely sensitive for treatable inherited metabolic disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P219) Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P767) Genetics of Prenatally Diagnosed Micro/Anophthalmia
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P185) Genome and Exome Sequencing to Define Cardiac Phenotypes in Diagnostic Odyssey Cases

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P819) Genome-wide Resolution of Highly Homologous Genes Using Long-read PacBio HiFi Sequencing  
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P540) Genome-Wide Sequencing Ontario (GSO): Canada’s First Provincial Clinical Genome-wide Sequencing Service 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P616) Genome-Wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P573) Genome-wide short tandem repeat expansion screening using optical genome mapping
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P282) Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P566) Global Genetic Health Assessment Project, Let's Not Leave Anyone Behind.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P395) Hallermann-Streiff syndrome – characteristic features and diagnostic overlap
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P077) Have We Considered Mosaicism? A Nearly Missed Molecular Diagnosis of von Hippel-Lindau
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P260) Healthcare Utilization in Pediatric Patients with Noonan Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P056) Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P734) Hemoglobin S Coinheritance with Unusual Clinically Significant Beta Globin Variants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P700) Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P745) High-fidelity Whole Genome Sequencing of FFPE Tumor-Derived Nucleic Acids stored at Ambient Temperature
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P652) High-Yield Diagnostic Testing of FGF14 Repeat Expansion in Cerebellar Ataxia Across the North American Population
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P868) How Many Lost Diagnoses? Addressing Inequitable Access to Genomic Testing for Rare Diseases in Rural Populations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P862) How to conduct equitable genetics research to include underserved populations: a systematic review of best practices.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P847) How clinical trial-inclusion criteria are failing Phenylketonuria patients and risking exhaustion of the eligible patient population.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P184) Hypermobility Clinic: Innovative Workflow Supporting Patients and Provider Wellness

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P494) Hypermobility EDS: succesful implementation of a referral screening program. 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P729) Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P109) Identification of new fusion partners for ETV6 gene in hematologic malignancy by Next Generation Sequencing (NGS)
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P078) Identification of novel germline mutations and copy-number variations in patients with small cell lung cancer
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P607) Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P723) Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P610) Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P070) Impact of Genetic Test Result Recall on Adherence to Cancer Risk Management Recommendations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P760) Impact of Prenatal Genetic Diagnosis on Pregnancy Termination: Experience from a Single Center
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P794) Impact of the COVID-19 Pandemic on Prenatal Genetic Screening Test Acceptance in Western North Carolina
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P706) Improved Interpretation of PHOX2B Missense Variants for Diagnosis of Congenital Central Hypoventilation Syndrome (CCHS) Using In Silico Prediction Algorithms 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P612) Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions: Simons Searchlight Research Registry
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P780) Improving peripartum health is an unappreciated advantage of prenatal genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P484) Improving the Capacity of the Clinical Genetics Workforce through an Implementation Science Lens
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P771) Incidental detection of maternal cancer in prenatal cell-free DNA screening: Clinical laboratory experience and reporting of Multiple Structural Variants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P487) Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P823) Insights and Strategies for Inclusive Adolescent and Young Adult Participation in Genetics Research
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P009) Insights from Georgia: Evaluating the Outcomes of Pompe Disease Newborn Screening 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P208) Insights into Diagnostic Yield and Novel Genetic Etiologies for Unilateral Polymicrogyria
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P198) Insights into the Cardiac Phenotype in Kabuki Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P526) Insurance Access to Genetic Testing: Experiences in the Midwest

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P675) Interrogating the Source: An Investigation of the Impact of Founder Variants on Residual Risk in Carrier Screening 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P002) Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P617) Is it time to switch to AlphaMissense for in-silico missense predictions?
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P752) It's About Time: How Key Genes Linked With Post-Traumatic Stress Disorder Evolve
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P340) Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P666) Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P389) Kagami-Ogata Syndrome: The Indispensable Role of Clinical Assessment and Utilization of Advanced Molecular Technologies 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P886) Knowledge, attitudes, and perceptions of pharmacogenomics among low-income residents of central Indiana
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P059) Late onset lipid storage myopathy caused by synergistic heterozygosity in ETFDH and TYMP genes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P031) Late Onset Pompe Disease diagnoses missed by standard newborn screening procedure- The Indiana Experience
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P383) Leptomeningeal Cavernomatosis and Non-Hemorrhagic Lacunar Strokes: An unusual phenotype for familial cerebral cavernous malformations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P894) Limitations in access to genetic counseling training programs across the globe
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P635) Long Read Sequencing for the Analysis of Repeat Expansion Disorders  
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P506) Long-Term Results and Challenges of Newborn Screening for Classic Homocystinuria in New York State
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P178) Longitudinal Neurodevelopmental and Medical Outcomes in Patients with Molecularly Confirmed RASopathies 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P342) Loss of Function Variants in ACTN2 in Pediatric Patients with Infantile-Onset Dilated Cardiomyopathy 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P205) Loss-of-function pathogenic variants in RBM42 cause a neurodevelopmental disorder by modulating RNA processing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P636) Lp(a) genetic risk screening using genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P525) Medical Genetics Providers Require Training and Institutional Support to Integrate Pharmacogenomic Testing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P508) Medically-Actionable Disease Risk Variants in a Diverse Population
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P166) MEK Inhibitor Therapy for Lymphatic Malformations: A Focused Approach in Patients with RASopathies

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P561) Mental Health in Fabry Disease: Results from a North American Survey of 401 Participants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P455) Milder Symptom Presentation of De Novo NARS1 Pathogenic Variant: A Case Report 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P785) Milroy Disease Presenting as Hydrops Fetalis: A Case Series
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P212) Modifiers of Arterial Stenosis in Williams Syndrome: Using Genomics to Discover Drivers of Vessel-Specific Outcomes
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P228) MOLECULAR and CLINICAL ANALYSES of LRP1 and LRP2 VARIANTS in HUMAN CONGENITAL CARDIAC LEFT-SIDED LESIONS
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P276) Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P364) Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P288) Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P239) Mosaic Trisomy 17 and Tetraploidy: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P256) MUCOLIPIDOSIS TYPE II: DATA FROM NORTHERN REFERAL PEDIATRIC CENTER IN VIETNAM



 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P365) Muenke Syndrome Associated with Juvenile Polyposis Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P630) Multi-Modal Testing, Including Long-Read Sequencing, to Elucidate an Unsolved Case of Dyskeratosis Congenita

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P406) Multidisciplinary cooperation for perinatal management following the genetic diagnosis of ATP1A3-related neurological disorder.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P014) Multiple Cases of Mosaic X-Linked Adrenoleukodystrophy in Males Identified Through Newborn Screening.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P812) Multiple Fetal Anomalies Suggest a Role for CDK20 in Human Ciliopathies

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P108) Myelodysplastic Syndrome (MDS) Detected by Germline Genetic Testing for Hereditary Cancer
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P485) Navigating the Genetic Odyssey: Enhancing Early Recognition and Referral for Precise Diagnosis Through Human Phenotype Analysis 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P466) Neurodevelopmental Diagnoses in Oculocutaneous Albinism Type II
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P671) New Artificial Intelligence-based computer-aided chromosome analysis and karyotyping - a pilot evaluation
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P507) Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P861) Newborn Screening for Pompe Disease in South Florida: The Clinical Experience

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P536) Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P569) NextGen Training of Medical Professionals for Evolving Genomic Interventions
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P800) Non-mosaic Trisomy 9 – prenatal and fetal autopsy findings with further delineation of the clinical phenotype
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P388) Noonan Syndrome Associated with a Homozygous Deep Intronic Variant in LZTR1 Gene Confirmed by RNA Sequencing

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P693) Novel combined molecular diagnosis of rare digynic triploidy in preterm neonates
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P789) Novel Markers of Pyruvate Dehydrogenase Complex Deficiency on Fetal Brain MRI
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P368) Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P313) Novel Presentation of Costello Syndrome With Urinary Tract Involvement In Early Infancy.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P701) Novel Presentation of Dextrocardia in TGIF1­-related Holoprosencephaly
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P848) Novel Structural Variant in PDGFB-associated with Ectopic Intracerebral Calcifications 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P324) Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P191) Old School and New Findings: Expansion and Delineation of the Dysmorphological Phenotype of Fanconi anemia
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P245) Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P772) Optimal Amniotic Fluid Volume Required for Direct Chromosomal Microarray Analysis. 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P492) OPTIMIZING ACCESS TO GENETICS SERVICES FOR INDIVIDUALS WITH AUTISM SPECTRUM DISORDER THROUGH A “GENETIC-COUNSELOR-FIRST” ASSESSMENT MODEL  

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P500) Optimizing Consent: An Analysis of Recruitment Data for the First 11,000 Consented ScreenPlus Parents
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P618) Optimizing Diagnostic Potential: Impact of Familial Sample Configurations on Exome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P356) Overlapping Movement Disorder Phenotypes are a Hallmark of Leukoencephalopathy with Calcifications and Cysts
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P874) Parental Perspectives and Experiences on the Implications of Expanded and Universal Newborn Screening
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P703) Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P600) pb-StarPhase: A Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P489) Pediatric exome sequencing compared with standard genetic testing: An analysis of private payer claims data
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P856) Perceptions of Family Health History in an East Baltimore Community
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P655) Performing long-read sequencing from dried blood spot cards
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P688) Performing NGS Testing for Myeloid Malignancies in an Academic Medical Center Improves Turnaround Time and Cost

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P522) Personalized Prescriptions: Potential Clinical Impact of Pharmacogenetic Screening
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P710) Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P216) Phenotype and Genotype of Vietnamese Patients with X-linked Adrenoleukodystrophy
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P682) Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P207) Phenotype-driven Algorithms for Enhanced Rare Disease Diagnostics
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P017) Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P136) Phenotypic Characterization and Genetic Interrogation of Patients with Cleidocranial Dysplasia
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P130) Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P317) Phenotypic variability among three family members with RAD21 Cornelia de Lange Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P018) Phenylketonuria Families and Researchers Evaluating Evidence (PHEFREE), the NIH Rare Disease Consortium for PKU
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P534) Piloting an Australian Quality Assurance Program Interpretive Module for Genomic Testing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P307) Pioneering Integrated Hereditary Prostate Genetic Testing Service in a Physician Office Laboratory
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P235) Polycystic kidney disease and hepatic fibrosis: phenotypic expansion of Sotos Syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P627) Pool of Normal Optimisation for NGS-Based CNV Calling in a Clinical Setting
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P831) Positive allosteric modulation in treatment of GRIN1 gene related neurodevelopmental disorders: promises and challenges

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P461) Potential founder effect in PPT1 in CLN1 disease in Mexican-Mestizo Population

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P007) PP4 criteria specifications for proximal urea cycle disorders

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P173) Precision Animal Modeling and VUS-Resolution in a Novel AXIN2-Related Disorder

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P147) Precision Medicine Approaches to Treatment for HNRNPH2 Mutations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P496) Predictors of Genetic Counseling Uptake When Using a Family Health History Platform for Hereditary Cancer Risk
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P784) Prenatal and Perinatal Features of a Type 2 Collagenopathy and COL2A1 Variant
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P697) Prenatal diagnosis and postnatal clinical course of a fetus with low-level mosaic trisomy 17q
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P798) Prenatal Diagnosis of GATA6-Related Disorder in a Maternal-Fetal Dyad: The value of prenatal diagnosis in complex decision-making
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P796) Prenatal Diagnosis of a Novel Biallelic ARFGEF1-Related Disorder Due to Uniparental Isodisomy: a Case Report
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P815) Prenatal Diagnosis of Tetrasomy 21: Case Reports 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P732) Prenatal Diagnostic Genetic Testing in 2023: The Experience of a Medical Center-Affiliated Cytogenetics Laboratory
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P737) Prenatal phenotype and female congenital genital malformation caused by a novel KDM6A mutation in a three-generation pedigree

 

 


Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P781) Prenatal Whole Exome Sequencing: Diagnostic Yield, Syndromic Landscape, and Incidence and Uptake of Secondary Findings  
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P811) Prenatally Diagnosed Ring Chromosome 18: A Case Report 

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P382) Presentation of Dual Molecular Diagnoses of Two Patients with Neurodevelopmental Disorder 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P083) Prevalence and Penetrance of LZTR1 Pathogenic Variants: To Screen or Not to Screen? 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P204) Primary Care Electronic Medical Record Features Predicting Genetics Referrals
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P042) Prolonged Survival of a Patient with Combined Oxidative Phosphorylation Deficiency 11 secondary to biallelic variants in the RMND1 gene

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P870) Racial Disparity in the Diagnosis of Mitochondrial Disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P853) Racial, Ethnic, & Socioeconomic Disparities in General Genetics Evaluation & Testing in the Adult Population
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P805) Rare Clinical Gene Variant of GBE1: Glycogen Storage Disease IV
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P865) Rare Disease Narratives on Social Media
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P381) Rare mechanisms causing UPD(14)pat and UPD(14)mat

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P611) Real-world comparison of HLA callers from exome sequencing data
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P576) Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs)
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P197) Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P020) Recommendations from the ClinGen Peroxisomal variant curation expert panel for variant classification in ABCD1
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P473) Reconciling Medical Genetics Educational Competencies and Closing Gaps in Undergraduate Medical Education 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P423) Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P594) Reducing Disparities in Cystic Fibrosis Newborn Screening in New York State
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P859) Reframing the Narrative on Incompatible With Life in Trisomy 18 & 13
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P286) Report of Individual Diagnosed with MPS type 1 Attenuated Form in Late Adulthood
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P122) Retinoblastoma Discordant Monozygotic Twins and the Discovery of an Intron 15 RB1 Variant

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P359) Retrospective Analysis of Non-Ketotic Hyperglycinemia Patients in Central and Eastern Kentucky

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P126) RETROSPECTIVE STUDY OF THE IMPACT OF ENDOPREDICT: EXPERIENCE FROM AN HOSPITAL CENTER
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P523) Returning all clinically relevant findings from genomic sequencing: Preliminary results from the Incidental Genomics RCT
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P211) Review of Genomic Test Orders for Pediatric Inpatients Receiving Exome and Genome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P605) RNA Sequencing as a Second-Line Test for Rare Disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P764) RNA Sequencing Improves Assessment of Variants of Uncertain Significance From Fetal Genome and Exome Sequencing
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P024) Role of Muscle Biopsy and Exome Re-analysis in a Mystery Case of Lactic Acidosis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P355) Rubinstein-Taybi syndrome-typical and atypical, Nemours experience and beyond

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P152) Seizure severity across neurogenetic conditions in Simons Searchlight
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P709) Self Reported vs. Genetic Ancestry from the GENCOV COVID-19 Genomic Sequencing Study
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P194) SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P777) Severely Elevated Bile Acids in Pregnancy and No-Call Result on Non-Invasive Prenatal Screening
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P762) Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P450) Single Cell RNA-seq Analysis of Skin Tissue from Individuals with Hypermobile Ehlers-Danlos Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P720) Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P667) Single Gene Deletion of FGF3 in a Patient with Features of 11q13 Microdeletion Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P505) Sleeping Giant: Underrecognized Clinical Genetics Programs Across the Vast Veterans Affairs (VA) Network
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P167) Snyder-Robinson Syndrome, an ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P838) Spectrum of short tandem repeats in Taiwanese population
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P478) Streamlining precision medicine: cancer predisposition germline testing in a large, integrated health system
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P735) Structural Variant Analysis Unveils Loss-of-Function Promoter Deletion in Candidate Gene WDR44
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P462) Student Experiences and Reflections on Rotations with Co-Supervision
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P851) Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P574) Summary of Findings from Comprehensive Genome Sequencing Performed in a Healthy Population Cohort
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P102) Systematic characterization of cancer ecosystem evolution
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P584) Systematic review and reclassification of 20 years of RB1 single nucleotide and copy number variants
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P493) The "Goldilocks" panel: Determining the optimal number of genes for reproductive genetic carrier screening.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P613) The Addition of Exome-Wide CNV Analysis to Multi-Gene Panels Contributes to Positive Yield
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P788) The ADGRA2 Gene is Associated with Multiple Fetal Brain Anomalies in Humans

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P155) The ClinGen framework for naming monogenic diseases
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P595) The ClinGen Syndromic Disorders Gene Curation Expert Panel
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P614) The clinical genome: validation data beyond clinical exome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P482) The clinical utility of genome-wide sequencing for rare disease: A multidimensional map
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P416) The Conundrum of Cardiovascular Imaging and Genetic Testing in the Context of Nonspecific Connective Tissue Findings

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P270) The Diagnostic Dilemma of Tissue Specific Mosaicism: A Case of Mosaic Supernumerary Chromosome 8 Detected via Buccal Sample
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P418) The diagnostic journey of Mexican patients with Verheij Syndrome
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P267) The Essential Role of Genetic Testing in the Phenotypic Heterogeneity of Stargardt Disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P026) The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P827) The Greenwood Genetic Center's approach to developing the future genetics workforce
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P518) The impact of mainstreaming general genetic testing on patient wait-times
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P417) The importance of genetic counseling for families with hyperinsulinism.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P352) The Importance of Genetics Consultation Prior to Testing for a Successful Rapid Genome Sequencing Program.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P882) The Long and Winding Road of Biomarker Legislation
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P308) The Scope of Incorporating Preemptive Pharmacogenomics Testing for Public Healthcare
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P520) The Translational Genomics Hub (TGH): A New Precision Medicine Tool at the University of Alberta

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P242) Tissue Specific Pathogenic NIPBL Variant causing Cornelia de Lange Syndrome: a Call to Clinicians 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P855) Traceback testing for ovarian cancer: implementer and participant perspectives  

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P328) Transcription factor HAND2 in syndromic congenital heart disease
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P038) Trimethylaminuria: Investigations of Patient and Healthcare Provider Experiences

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P129) Trio-Based Whole Exome Sequencing Reveals Novel Pathogenic Variants in TMPRSS7 Associated with Neurodevelopmental Disorders.
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P769) Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P802) Trisomy 22 with 80% Mosaicism: A Case Report
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P266) Trisomy 5p: Long Recognized, Rarely Published
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P118) Two Cases of Angiocentric Glioma with MYB::QKI Fusion in a Single Institution
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P783) Two Fetuses with Hereditary Hemorrhagic Telangiectasia Presenting with Rare Finding of Arteriovenous Malformations
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P499) U.S. Genetics Professional Workforce in 2023
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P515) Uncertainty and information management for Lynch syndrome in a genomic screening cohort: connections to clinical engagement
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P111) Uncovering a Late Diagnosis: A Case Study on 22q11.2 Deletion in an Adult with Hypoparathyroidism
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P743) Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P358) Uncovering the Clinical Spectrum of Citrin Deficiency in Korea: Insights from a Study of 30 Patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P877) Understanding the Advantages of Translating Educational Materials for the Clinical Genome Resource
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P210) Unexpected Recurrence of Vascular Ehlers-Danlos Syndrome in Sibships Due to Parental Mosaicism for COL3A1 Variants 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P548) Universal Germline Genetic Testing for Breast Cancer at the Princess Margaret Cancer Centre
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P644) Unlocking the Code: When SpliceAI Falls Short in Variant Assessment

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P662) Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P004) Urine Polyols for Diagnosis of Sorbitol Dehydrogenase (SORD) Deficiency-Related Peripheral Neuropathy

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P545) Using Direct Messaging for Patient Engagement in Inherited Cancer Risk Management: A Pilot Intervention
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P779) Utility and Diagnostic Yield of Prenatal Skeletal Dysplasia Panel Testing  
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P763) Utility of Genetic Evaluation of Congenital Posterior Fossa Anomalies
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(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
Authors
ePoster
(P645) Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P786) Utility of Whole Exome Sequencing in Desperate Prenatal Patients
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P782) Validation of low-pass genome sequencing for prenatal diagnosis
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P312) Value of Early Evaluations with Comprehensive Genetic Testing in Congenital Heart Disease and Childhood Onset Heart Failure: Case Report
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P687) Variant Classification Discrepancies in the ACADVL Gene
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P011) Variant Interpretation in Functionally Defined Patients: Lessons from methionine synthase deficiency (cblG)
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P404) Variants of Uncertain Significance in Genes Associated with Inherited Connective Tissue Disorders Pose Unique Challenges
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P408) Vision and Enamel Anomalies in Jalili Syndrome: Case Study and Genetic Insights
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P289) Vitreoretinopathy is common in children with CTNNB1 mutations.

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P259) What Are the Educational Needs of Caregivers of Children with Pierre Robin Sequence? 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P320) When to Consider Genetic Testing in Infants with Hip Dysplasia
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P127) Where Epigenetics,Cancer and Hypoxia meet
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P339) Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P157) Willing but not (quite) ready: primary care provider perspectives on expanded genetic screening in children 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P563) With great panels comes great responsibility- in pursuit of a well-evidenced age-based genomic screen
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(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
Authors
ePoster
(P439) Yet Another Neurodevelopmental Single Gene Disorder: G3BP1-Related Disorder

 
Wednesday, 4:00 pm - 11:59 pm
Authors
ePoster
(P790) Yield of exome sequencing in congenital brain malformations identified on fetal MRI
Wednesday, 4:00 pm - 11:59 pm
Authors