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2021 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
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Welcome to the 2021 Digital Edition of the ACMG Poster Sessions.

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Summary
Availability: On-Demand
Cost: FREE
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Contains (1172)
Impact of Implementing Customized ACMG/AMP Variant Interpretation Guidelines to the BTD Database
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Early-Onset Renal Cell Carcinoma: Assessment of Germline Genetic Testing Criteria
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Neuropsychiatric Comorbidities Self-reported by Interstitial Cystitis Patients on an Online Peer Health Network
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Growth Patterns in Subjects with Mucopolysaccharidosis VII
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Disclosing Whole-Exome Sequencing Results to Minors: Perspectives from Low-Income Pregnant Latina Women
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Incidental Diagnosis of Birt-Hogg-Dube Syndrome in a Newborn: When Reported Primary Findings are Instead Secondary Findings
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Automated Classification of Copy Number Variants Based on 2019 ACMG Standards
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Variants of uncertain significance in multi-gene cancer panels: a comparison between 2017 and 2020 in a diverse urban population
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2021 ACMG Abstracts
Identification of Adult Patients with Significantly Elevated Homocysteine Due to Inborn Errors of Metabolism, Using Key Existing Clinical Data Points
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Diagnostic Yield of Archer FusionPlex PanHeme and Solid Panels: Two-Year Experience from a Pediatric Tertiary Care Hospital
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Elsevier - Molecular Genetics and Metabolism
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The Newborn Screening Experience of the Marshallese Population in Northwest Arkansas
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Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p: Case Report and Literature Review
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Clinical Validation and Reporting of Noninvasive Prenatal Testing for Fetal Aneuploidy Detection
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Ethical Considerations in the Application of Advanced Genomic Testing for a Donor-Conceived Child
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Clinical Utility of Integrated Cytogenetic Methodologies in the Identification and Characterization of Genetic Aberrations in B-Lymphoblastic Leukemia with Hypodiploidy
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An Exploration of Coping and Resiliency in Adults with Mitochondrial Disease
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Management of Citrullinemia Type 1 Without the Use of Medical Formula
A New Translocation Partner for CBFB in Acute Myeloid Leukemia, t(10;16)(p13;q22)
Novel HIVEP2 pathogenic variant in a patient with rapid, severe brain atrophy. Second condition, or expansion of the phenotype?
Future Trends in Clinical Genetics Services: Exploring the Perspectives of Canadian Genetics Professionals Using the Delphi Method
Next-Generation Cytogenomic Characterization of Prenatal Cases by Optical Genome Mapping
Health Disparities Stemming from Race and Ethnicity Differences: Best Practices for Reporting Demographics in Newborn Screening Research
Cytogenomic Microarray Analysis As a First-tier Clinical Diagnostic Test: Kaiser Permanente, Southern California Permanente Medical Group Experience
Experiences of Adults Living and Coping with Primary Mitochondrial Disease
Folinic Acid Initiation in FOLR1-Related Cerebral Folate Transport Deficiency
Atypical Teratoid Rhabdoid Tumor in a Child With Neurofibromatosis Type 2: A Novel Dual Diagnosis
Neonate with Schwachman-Diamond syndrome presenting with Short Long Bones prenatally and postnatal features of Osteopetrosis
Screening for Duchenne and Related Muscular Dystrophies in North Carolina Through the Early Check Newborn Screening Pilot Study
Generation of a Prenatal Workflow for Identification of Structural Variation by Optical Genome Mapping (OGM)
Parental Depression and Stress Associated with Newborn Screening for Complex Disorders
Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) Rhizomelic Chondrodysplasia Punctata type 1
A Genetic Counselling Protocol for the Return of Genomic Sequencing and Serological Results to COVID-19 Positive Patients: GENCOV Study Canada
Whole Exome Sequencing Shows Oligogenic Inheritance as a Pathogenic Mechanism for an Atypical Leigh Syndrome in a Pediatric Patient
Evaluation of Barriers to Referral for Cancer Predisposition Syndromes in Pediatric Oncology Patients
GATAD2B-associated Neurodevelopmental Disorder (GAND): Insights using Cellular Modeling with Patient-Derived IPSCs
Three Program Enhancements to Advance Population Genetic Screening in a Community Health System During 2020
Creating a rational list of X-linked disorders for inclusion on reproductive carrier screening panels
Design of a Web-Based, Participatory Education Program on Clinical Applications of Whole Genome Sequencing
Improving and Accelerating Clinical Molecular Diagnosis of Severe Hemophilia A with Optical Genome Mapping Technology
Genetic Evaluation for Acute Recurrent Pancreatitis or Chronic Pancreatitis: A Single Center Experience
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other disorders associated with lactic acidosis
Case Report: Acute Myeloid Leukemia With CBL p.C384G Mutation
Diagnostic Power and Clinical Impact of Exome Sequencing in a Cohort of 500 Patients with Rare Diseases
Implementing Early Exome Sequencing to Shorten the Diagnostic Odyssey: Identifying Barriers and Facilitators through Clinician Focus Groups
Prenatal Genetic Screening and Diagnostic Testing during the COVID-19 Pandemic in the Bronx, NY
Taking an Anti-Racist Posture in Scientific Publications in Human Genetics and Genomics
Exploration of genetic variation beyond leukocyte-derived germline DNA in a pediatric rare disease cohort
Two Genetic Counselors Walk into a Primary Care Clinic
Progressive Worsening of Central Nervous System Phenotype in Children with Classic Galactosemia: a Cross-Sectional Analysis
Expanding the Phenotypic Spectrum of Internal Tandem Duplications in Somatic Disease
In-Frame Deletion in SPOP Leads to Nabais Sa-de Vries Syndrome
Newborn Screening Pilot Study in Time of Pandemic: Duchenne Muscular Dystrophy Pilot Project Experience
Using Chromosomal and Single-Gene Non-Invasive Prenatal Testing to identify the cause of Congenital Heart Defects
Are Clinicians Ready for Genomic Medicine?: Assessing Educational Needs
Chromosome 8q22.3q23.3 interstitial duplication: a rare case report and review of the literature
Genetics Simulation as a Safe Training Tool for High-Stakes Conversations
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Relief, empowerment, and uncertainty: Perspectives of clinical hereditary cancer population screening participants
Atypical Leigh Syndrome Associated with Compound Heterozygous Variants in NDUFAF5
What trends can we see with consumer-initiated testing orders and telehealth genetic counseling pre- and post-COVID?
Global Approach to Prenatal Testing
The Impact of COVID-19 on Pediatric Diagnostic Odysseys
Utilization of next generation sequencing to characterize duplications identified through chromosomal microarray
Post-test Outreach: A Valuable Tool in the Consumer-Initiated Genetic Testing Space
A cohort of citrullinemia type 1 in Iran: Five novel pathogenic variants in the ASS1 gene
Two Novel Case Reports of NTHL1 Tumor Syndrome Support Prior Claims That NTHL1 is a Multi-Tumor Predisposition Gene
Ophthalmic Manifestations of Lamb-Shaffer Syndrome: Case Presentation and Literature Review
Provision of reproductive and cancer genetics services during COVID-19 pandemic
Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC
A clinical laboratory's experience with remote onboarding and virtual training of variant curators for carrier screening
Standardizing the Classification of Recurrent Copy Number Variants – Incorporation of Sub-clinical Phenotype Data for CNVs with Reduced Penetrance
Clinical Review of Diagnostic Testing: Connecting Physicians and Laboratories
Association of KCNJ11rs5219 gene polymorphism among people with type 2 diabetes mellitus in Mongolia
Germline Findings Based on Patient Phenotype of the Texas KidsCanSeq Cohort: An Interim Analysis
SETD1B mutation identified in 15-year-old male with neurodevelopmental issues including: intractable seizure disorder, intellectual impairment, and autistic features
Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers
Reproductive Outcomes in Carriers of Chromosomal Reciprocal Translocations
The Effect of Pedagogical Methods on Attitudes and Understanding of Direct-To-Consumer Genetic Testing
Case report: Mosaic maternal segmental isodisomy at 2q14.2-qter as a novel cause of NEB-associated Nemaline myopathy
Success Rates in Providing Genetic Results Reporting Services
A Normal MRI Leading To A Delayed Diagnosis of Metachromatic Leukodystrophy
Detection of t(5;14)(q31.1;q32.1) [IGH/IL3] in B-lymphoblastic leukemia  by Next Generation Sequencing
Mini-COMET: Individual-level treatment responses in infantile-onset Pompe disease participants receiving avalglucosidase alfa or alglucosidase alfa who previously received alglucosidase alfa
Newborn Screening Saves Lives: The Importance of Longitudinal Data to Inform Health Outcomes
Prenatal Diagnostic Testing Challenges with Novel Gene Alterations in KCNMA1-linked Channelopathy: A Case Report
The Long Road to Rare Disease Diagnosis: A Hero's Journey
A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract
Factors Influencing Genetic Counseling Applicants' Match Rank Order
Perceptions and Use of Phenylbutyrate Metabolite Testing in Urea Cycle Disorders: Results of a Clinician Survey
Trisomy 3 and CBFA2T3-GLIS2 fusion in a child with acute megakaryoblastic leukemia without Down syndrome
Corneal Crystals as a Presenting Sign for Smoldering Multiple Myeloma: A New Case and Literature Review of This Rare Association
Use of Social Media in Rare and Undiagnosed Disease Research: A Systematic Review
Recurrent Affected Pregnancies Ultimately Leads to Genetic Diagnosis: A Case Report Involving Candidate Gene CYS1
Newborn Screening Translational Research Network: Translating Evidence-Based Practices to Enhance Parent Engagement
Reinterpretation of microarray copy number variants of uncertain significance increases diagnostic yield
Parenting Young Daughters with a Prenatal Diagnosis of Trisomy X: A Phenomenological Analysis of Mothers' Experiences in the Early Years
Urinary Glucose Tetrasaccharide Correlates with Phenotype in Pompe Disease in the Newborn Period
Proactive Missense Variant Interpretation: A Deep Mutational Scan in Mammalian Cells
Significant Unmet Need in Infants with Mucopolysaccharidosis VII and Non-Immune Hydrops Fetalis: A Summary of Cases
Determinants of Turnaround Time in a Rapid Genome Sequencing Program
Whole Exome Sequencing Identifies Numerous Variants in a Deceased Fetus with Multiple Congenital Anomalies: Which One(s) is Our Likely Answer?
Virtual and Asynchronous Teaching of Computer-Assisted Diagnosis of Genetic Diseases Seen in Clinics
De Novo Variant in GNB2 Associated with Neurodevelopmental Disease
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 10,853 tests
Hypermethioninemia due to Adenosine Kinase Deficiency: Novel Mutations in ADK Gene diagnosed by Rapid Whole Genome Sequencing
Optical Genome Mapping Detects Rare Genetic Drivers in Pediatric B-Lymphoblastica  Leukemia
Disease Characteristics, Early Effectiveness, and Safety of Vestronidase Alfa for Treatment of Mucopolysaccharidosis VII Assessed in Novel Disease Monitoring Program
Unexpected Diagnoses in Patients with Abnormal Newborn Screening
Non-invasive prenatal screening by Vanadis LifeCycle Platform
International Plan of Education, Awareness, Celebration, and Commemoration around the Bicentennial of the Birth of Gregor Mendel, July 22, 1822
Phenotypic characterization of JARID2-related intellectual disability: A case series
Somatic Genetic Testing in Cancer: How the Medical Genetics Provider Can Help
TRMU Deficiency: a Broad Clinical Spectrum Responsive to Cysteine Supplementation
Clinical and Molecular Features of Pediatric Cancer Patients with Lynch Syndrome
One Stone,Two Birds: How a WGS-enabled Diagnostic Journey Transforms Into a Precision Population Health Service for the 21st Century
Piloting Newborn Screening for Neuromuscular Disease with Data Collection Tools Developed by the Newborn Screening Translational Research Network
Case Report of Severe Prenatal Presentation of Osteogenesis Imperfecta Caused by Uncommon IFITM5 mutation
Medical Students' Knowledge of, Experiences with, and Attitudes Towards Direct-to-Consumer Genetic Testing.
Clinical and cytogenetic findings in a phenotypic female with a 46,XY karyotype and complete gonadal failure
Genomic Sequencing Results Disclosure in Diverse and Underserved Populations: Themes, Challenges and Strategies from the CSER Consortium
Rapid Measurement of Creatine, Creatinine, and Guanidinoacetate from Dried Blood Spots: A possible screening assay for Guanidinoacetate methyltransferase (GAMT) deficiency
Amplification of ERG/ETS genes is a recurrent evolutionary event in myeloid malignancies and distinct from iAMP21 in B-lymphoblastic lymphoma
A Novel AIFM1 Pathogenic Variant In A Teenage Male With Recurrent Joint Dislocations And Acrogeria
Clinical Genomic Population Health Testing for 431 Genes Implemented Through Family Medicine Practices: the Vermont Experience
A retrospective study assessing the performance of expanded carrier screening in consanguineous couples
Identification of structural variation in constitutional disorders by optical genome mapping
Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests
The Importance of Clinical Judgement in Interpreting Molecular Results: A Case of Glycogen Storage Disease Type III?
B-cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Down Syndrome Due to a Constitutional Isodicentric Chromosome 21
Systematic Analysis of Genetic Variation of Duchenne Muscular Dystrophy and Implication for Cancer
The Majority of Participants from a Multiethnic Biobank Elect to Receive Medically Actionable Genomic Results
Where There's a Y There's a Way: Monosomy X by NIPS but Male by Ultrasound
Familial Segregation of Neuropsychiatric Phenotypes and a 5'UTR Deletion in PTPRD
Two Unrelated Cases of Mild Methylmalonic Acidemia-Mutase Deficiency with Shared Variant Treated with Vitamin B12 Only
Contraceptive Use and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
IMAGe Syndrome: Further Delineation of the Clinical Phenotype of PCNA Binding Domain CDKN1C Variants
Qualitative assessment of a patient-facing hereditary cancer risk assessment tool: Barriers and solutions
Misdiagnosis rate when conventional cytogenetic analysis on chorionic villi is performed on only one cell layer, cytotrophoblast or mesenchyme, alone
Extending and Adapting the Functions of Genetic Laboratories During the COVID-19 Pandemic- Challenges and Successes
Impact of COVID-19 on Newborn Screening in South Texas
Comprehensive analysis of WGS and RNA-seq data to identify genetic variations in a patient with clear cell renal carcinoma
Path to Diagnosis and the Caregiver's Perspective on the Impact of Creatine Transporter Deficiency
Analysis of CDC Tier 1 Genomic Conditions Identified by a Population Genomic Screening Program
Prenatal Diagnosis of an FLNB Associated Skeletal Dysplasia
Reducing the time to diagnosis for Spinal Muscular Atrophy
From the Voice of Patients and Caregivers: Burden of Illness in Infantile Onset ABCC6 and ENPP1 Deficiency (GACI and ARHR2)
Multi-gene panel testing results prompt frequent and guideline adherent changes to cancer risk management recommendations based on clinician report
A PRPH2 Arginine Missense Mutation in Central Areolar Choroidal Dystrophy with Phenotypic Variability Among Family Members
Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis
Fetal Aortic Dilation in a Mother with Clinical Diagnosis of Ehlers Danlos Syndrome
WNT5A Haploinsufficiency and Gestational Diabetes in a Newborn with Multiple Congenital Anomalies: A Likely Gene-Environment Interaction
The Natural History of Vitamin B12-Responsive Cobalamin A-Type Methylmalonic Acidemia
Evaluating the impact of an artificial intelligence tool: Improving high-risk patient identification for hereditary breast and ovarian cancer genetic testing
Clinical Characterization of Individuals with the Distal 1q21.1 Microdeletion
Natural Language Processing of Clinical Notes Reveals a Quantitative Indicator of Drop-Off in New Phenotype Accumulation
Simultaneous Detection of Copy Number and Single Nucleotide Variations Improves Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes
Detection of a Cryptic Inverted Duplication in the RAB27A 5'UTR Following Non-Diagnostic WES in Two Cases of Atypical Griscelli Syndrome
Case Report of Acute Myeloid Leukemia and Dilated Cardiomyopathy in a Pediatric Patient with D-2-Hydroxyglutaric Aciduria Type I
Germline Pathogenic Variants In Pakistani Patients Evaluated At A Hereditary Breast Cancer Clinic
Complexities in Interpretation and Management of Rare Disease in the ICU Setting: A Severe Case of TRMU-Related Disorder
Telemedicine Challenges and Strategies for the Medical Nutrition Therapy of Patients with Inherited Metabolic Disorders During the COVID-19 Pandemic
Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis
Performance of In Silico Splice Tools Used at the GGC for Decision-Making in Molecular Diagnosis
Baby-COMET Methodology: A Study of the Efficacy and Safety of Avalglucosidase alfa in Treatment-naïve IOPD <= 6 Months of Age
Divergent Payor Medical Policy leads to Gross Disparities in Access to Hereditary Breast and Ovarian Cancer Genetic Testing
Pharmacological inhibition of the primary endocannabinoid producing enzyme, DGL-α, induces ASD and co-morbid ASD phenotypes in adult C57BL/J mice
Clinical Geneticists' and Primary Care Physicians' Responses to Hypothetical Clinical Scenarios
Chromosomal Microarray Testing of Products of Conception Tissues: Experiences from a Hospital Cytogenetics Laboratory
Genetic basis of oculopharyngeal muscular dystrophy: Detection of alanine repeats in PABPN1 gene by next generation sequencing
The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease
Universal Multi-Gene Panel Testing for Individuals with Pheochromocytomas and Paragangliomas
Clinical utility and improved speed of analysis by automated variant prioritization system in genetic hearing loss
Uptake and Utilization of Germline BRCA1/2 Testing for Thai Woman with Breast Cancer; A Pilot Study for Cost-Effective Screening Implementation
Prenatal Diagnosis of Two Co-Occurring Genetic Conditions: FOGX1 Contiguous Deletion and Becker Muscular Dystrophy
Next Generation Sequencing Panel Screening of 320 Patients with Clinically Unclassified Systemic Autoinflammatory Diseases
A Long-term, Prospective, Multicenter, In‑clinic and Online Disease Monitoring Program (DMP) for Patients With Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
A novel TET2 intronic variant leads to alternative splicing in patients with myeloid neoplasm
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR gene : A rare cause of life-threatening hypercalcemia
Improving Access to Genetics Services: Building on the National Evaluation of the Regional Genetics Networks for the Next Four Years
Full-Length Sequencing of CYP2D6 Variants with PacBio HiFi Reads
Successful Liver Transplantation in an Adult Patient with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Knowledge and Use of BRCA Genetic Testing among Chinese and Non-Hispanic White Breast Cancer Survivors
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding
Testing and Extending Recommended Algorithms for Identifying Genetic Disease-Related Encounters in Pediatric Patients
A robust and sensitive method for the detection of mitochondrial DNA mutations from urine sediment and other low-quality DNA sources
Self-Reported Neurobehavioral Impact of Phenylketonuria in Adult PKU Patient Registry Participants
Clinical Utility of Optical Genome Mapping (OGM) in Cytogenetic Analysis of Brian Tumors
Outcomes and genotype-phenotype correlations in 45 individuals with HADHA and HADHB mutations enrolled in Inborn Errors of Metabolism Information System
Experiences of telemedicine in genetic practices during the COVID-19 pandemic
Preimplantation Genetic Testing for Single Gene Disorders with Human Leukocyte Antigen Matching and Aneuploidy Screening: In Vitro Fertilization Cycle Outcomes
Natural History and Systematic Review of Ophthalmic Findings in Peroxisome Biogenesis Disorders-Zellweger Spectrum
Genomic Characterization of 747 Pediatric Hematological Malignancies<
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Returning Genetic Information and Value to All of Us Research Program Participants: Lessons Learned and Looking Ahead
Long-read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders
Improving the Performance of Newborn Screening for Mucopolysaccharidosis Type II with Second Tier Biomarker Testing
Efficient workflow for detection of clinically relevant abnormalities in leukemias according to NCCN guidelines
Growth Hormone Therapy in Children with Schaaf-Yang-Syndrome
Non-Indication Based Genetic Testing in the Workplace: A Qualitative Cross-Case Comparison of Genetic Testing Vendors
Gene conversion challenges in preimplantation genetic testing for monogenic disease (PGT-M)
Retrospective Study of the Disease Course in Pediatric Patients With Severe MMA Caused by MMUT Mutations: Design and Baseline Characteristics
A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome
G6PD Deficiency and Pharmacogenetics: Safer Prescribing with Medical Genetics Summaries (MGS)
Application of Constitutional Rapid Genome Sequencing to Detect Infectious Disease in a Critically Ill Neonate
SARS-2 related HUPRA Syndrome Presenting with Neonatal Lactic Acidosis
Clinical Outcomes of Major Clinical Events and Emergency Triheptanoin Use in Critically Ill Patients With Long-chain Fatty Acid Oxidation Disorders
Motivations, Concerns, Expectations, and Knowledge about Preemptive Population Genetic Testing: Real World Evidence from Imagenetics METRICS
Evaluating the Mutational Spectrum of SIN3A Alterations: A Case Series of Patients Profiled by Next Generation Sequencing
Improved sample collection method for nicotinamide adenine dinucleotide measurement from whole blood
Case report of oldest described adult with SETD2 variant: an intersection of SETD2 gene neurodevelopmental and tumor suppression roles
Newborn Screening for Mucopolysaccharidosis Type II: A Single Center's Experience
Newborn Screening Second Tier Molecular Testing is Critical for Identifying True Positives in Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy
Timing of Newborn Blood Collection Alters Screening Performance for Metabolic Disorders
More Than a Fancy Exome: Unique Capabilities of Genome Sequencing for Pediatric Rare Disease Diagnosis
Parental Perceptions of Genomic Sequencing for Expanded Newborn Screening
Buccal Swab Testing with the AmplideX PCR/CE SMN1/2 Plus Kit that Assesses Copy Number and Critical Mutations for SMA
Cobalamin J Disease Detected on Newborn Screening: Novel Variant and Normal Neurodevelopmental Course
Contribution of Mendelian Disorders in an Unbiased Pediatric Neurodegeneration Cohort
The Newborn Screening Translational Research Network: Accelerating the Nomination of New Conditions Through Newborn Screening Pilot Studies
Building a comprehensive teaching repository of whole slide images
Rare Presentation of FDX2-Related Mitochondrial Myopathy
Could deletion of RBPJ be the Cause of Midline Scalp Defects in Wolf-Hirschhorn Syndrome?
Utilization of In-Patient Genetic Testing Services at Duke University Health System
Incidental Detection of Maternal Risk for the 22q11.2 Deletion by SNP-Based Noninvasive Prenatal Testing: Implications for Pregnancy Management.
D-bifunctional protein (DBP) deficiency: Expanding the Phenotype and Proposal for Puerto Rican Founder Allele
A Case of p53 Related Intellectual Disability, Seizures, Microcephaly, Anemia and Small Stature
MTBAct: A Precision Oncology Maturity Model Towards Defining Best Practices for Molecular Tumor Boards
Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant
Clinical Characterization of 20 Infants Diagnosed with Late-Onset Pompe Disease after Positive Newborn Screening
Novel Variant in TGM6 Gene in Patient with Spinocerebellar Ataxia 35 Exhibiting a Rapid Onset and Progression of Movement Disorder
Health Disparities in Genetic Testing for Patients Receiving Government-funded Insurance Benefits
Using Ethnicity to Adjust Risk and Provide Accurate Counseling for Alpha-Thalassemia
Comparison of Psychosine Analysis in Dried Blood Spots and Red Blood Cells in Krabbe Disease
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
A Comparison of Genotyping and Sequencing Preemptive Genetics Screening Programs in Primary Care Settings
Concurrent inversion(3)(q21q26.2) and translocation(3;21)(q26.2;q22) in the acceleration phase of chronic myeloid leukemia
Classification of Variants in ACADVL Following the 2015 ACMG Variant Classification Guidelines and Correlation With Clinical and Biochemical Data
Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb
Successful Recruitment of Medically Underserved Populations into Genetic Studies: Lessons Learned from the CHARM Study
Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia
ALG8-CDG: New Insights Into an Ultra-Rare CDG
Cytogenetic Microarray Copy Number Variants in Patients With Non-Syndromic, Single Suture Craniosynostosis
Patterns of Healthcare Utilization in a Pediatric Genetic Cohort
Next-generation sequencing identifies unexpected high frequency of patients with KIF1A associated Neurological Disorder (KAND) in a single center
All Grown Up and Nowhere to Go: The Current National State of Care For Adults with Inherited Metabolic Disease
Experiences of individuals with achondroplasia and their caregivers: interim results from qualitative studies
Preferences of women and their partners regarding access to and use of non-invasive prenatal tests in Quebec, Canada
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus
Optimizing the Genetic Diagnostic Evaluation for Critically Ill Infants
Advocacy for Genetic Testing Access for Patients in Wisconsin
Expansion of the genotype and phenotype of NALCN channelopathies: an individual with biallelic variants in NALCN from the NYCKidSeq Study
Barth Syndrome Caused by a Novel TAZ Deletion through an Alu Element-mediated Mechanism: a Case Report
A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol
Utility of Incorporating Clinical Information in Variant Interpretation for the Fibrillin-1 Gene
Deletion of SMC3 in an individual with heart defects and syndromic features: Is haploinsufficiency an unrecognized disease mechanism?
Exploring Telemedicine for Genetics Service Delivery in a Wisconsin Plain Community
NeuroSCORE: A Genome-wide OMICs Based Model to Identify Disease Associated Genes of the Central Nervous System
Functional characterization of recurrent truncating variant in UBAP1 associated with hereditary spastic paraplegia
Assessing Genetics Policies of State Medicaid Programs
Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples
Ophthalmic Features in Wieacker-Wolff syndrome: A Case Report and Systematic Review
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Broad Implications of Sustained, Proactive Clinical Validity Curation
Childhood prevalence of achondroplasia in New South Wales (NSW) and the Australian Capital Territory (ACT), Australia
Experience Using a Combination of Variant Prioritization Tools in a Large Rare Disease Cohort
Loeys-Dietz Syndrome Caused by 1q41 Deletion including TGFB2 is Associated with a Neurodevelopmental Phenotype
Retrospective evaluation of in silico prediction tools, REVEL and CADD, for supporting level evidence (PP3/BP4) of genomic variant interpretation
Heterozygous ANKRD17 Loss of Function Variants Cause a Syndrome with Intellectual Disability, Speech Delay and Dysmorphism
Triploid Dizygotic Twin Pregnancy: Elucidating Meiotic Error Using STR Marker and Chromosomal SNP Microarray Data
Achondroplasia Caregiver Survey-A Global perspective on diagnostic pathways, healthcare management and personal impact from carers of children with Achondroplasia
Clinical Utility of NanoString Fusion Panel to Detect Actionable Gene Rearrangements in Fresh and Formalin-fixed Paraffin-embedded Cancer Samples
13-Year Longitudinal Study on a Male with 47,XYY and Neurodevelopmental Outcomes
A Comprehensive Genome Report for COVID-19 Patients: GENCOV Study Canada
Vosoritide for Children with Achondroplasia: A 60-month Update from an Ongoing Phase 2 Clinical Trial
Making the Case For Higher-level Classification of Results Reporting: Development and Implementation of Case-level Result Categories for Genetic Testing
Casimersen Treatment in Eligible Patients with Duchenne Muscular Dystrophy: Safety, Tolerability, and Pharmacokinetics Over 144 Weeks of Treatment
New CFTR Variant Testing Standards Promote Identification of Infrequent and Novel Variants, Which May Have Important Therapeutic and Fertility Implications
First Tier Rapid Whole Genome Sequencing Increases Diagnostic Yield and Changes Management in Children Admitted in Intensive Care
Using Pyrosequencing to Determine the Allele Origin of 15q Duplication Syndrome
Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: Case Report and Literature Review
Confirmation of Parentage in Clinical Genome Sequencing Cases Using Small Genotyping Array
The Point-of-Care Use of a Facial Phenotyping Tool in the Genetics Clinic: Enhancing Diagnosis and Education with Machine Learning
Development of a Data Model and Programmatic Tooling for Annotation of Functional Assay Evidence Used in Sequence Variant Interpretation
Standard Operating Procedure for Genetic and Metabolic Consults for Possible Non-Accidental Trauma
Novel Pathogenic Sequence Variants in Yin Yang 1 (YY1) Transcription Factor and Abnormal DNA Methylation Profile
Prescription Claims for Immunomodulator and Anti-Inflammatory Medications among Persons with Ehlers-Danlos Syndromes
Tailoring the ACMG/AMP Sequence Variant Interpretation Guidelines to the Unique Aspects of Germline ACADVL Variants
Using Projected Retained Ability Score to Assess Cognitive Development in Patients with Neuronopathic Mucopolysaccharidosis II Receiving Intrathecal Idursulfase-IT
Long-read Sequencing for Diagnosis in the Undiagnosed Diseases Network
Randomized, Placebo-Controlled Study of Lyophilized Formulation of SYNB1618 in Healthy Adult Volunteers
Identification of a novel t(X;10)(p11.3;q23.1) translocation disrupting MAOB in a patient with severe developmental delay using mate pair sequencing
KCNJ5 pathogenic variant p.Gly151Glu and its association with Familial Hyperaldosteronism and risk for Long QT syndrome
Optical Genomic Mapping Reveals Balanced and Unbalanced Cytogenetic Findings Associated with Tumor-forming Potential in a Prostate Cancer Cell line (M2205)
bAyesCMG: a high throughput computational tool for applying ACMG/AMP criteria and generating Bayesian pathogenicity probabilities
Many Clinical Laboratories Performing Next-Generation Sequencing Have No Future Plans to Migrate to GRCh38
Functional and Structural Analyses of Novel Smith-Kingsmore Syndrome-Associated MTOR-Variants Reveal Potential New Mechanisms and Predictors of Pathogenicity
Unbiased Machine Learning Methods to Predict the Limitations of Variant Calling in Homologous Genomic Regions Using Next-Generation Sequencing
Renal and secondary outcomes 1 year after switching from agalsidase alfa to pegunigalsidase alfa for Fabry disease (the BRIDGE study)
Defining the Genetic Etiology of Chronic Kidney Disease in Women Identifies Maternal-Fetal Health Risks
Promoter-mediated dysregulation of gene expression in autism spectrum disorder
Early Experience with a Broad NGS-Based Approach to Pediatric Kidney Disease
LMNA mutation in a patient with progeroid features and dilated cardiomyopathy
Utilization of Renal NGS Panel to Uncover Dual Diagnoses: 'APOL1-Plus' in Patients with Chronic Kidney Disease
Diagnosing Copy Number Variation Disorders via Multigene Panels
Phenotypic expansion and prenatal presentations of the TRPM3-related intellectual disability syndrome
Heterozygous Variants in PRPF8 are Associated with Neurodevelopmental Disorders
Haplotype-resolved germline structural variation underlying male breast cancer predisposition syndromes
Advanced Diagnostics and Genotype-Phenotype Resolution using Functional Genomics in >500 Neuromuscular and Neurological Disorder Patients
A Rare Case of Mosaicism for a Digynic Triploid Cell Line in an 8-year-old Male
Rapid Exome and Genome Sequencing in Critically Ill Pediatric Patients: 3-year Experience From the Children's Hospital of Michigan
Mate-Pair Sequencing and RNA Sequencing to Aid in the Diagnosis of a Patient with a Balanced Translocation
Birth Prevalence of Phenylalanine Hydroxylase Deficiency: A Systematic Literature Review and Meta-analysis
Detection of acquired uniparental disomy in clinical exome sequencing of pediatric patients with leukemia predisposition syndromes and its clinical significance
Long-Chain Fatty Acid Oxidation Disorders Gene Panel: Clinical Findings from a Sponsored Genetic Testing Program
The Epilepsy Genetics Initiative: A Final Summary
Phenom: A Prospective Clinical Study on the Clinical Impact of Phenylketonuria in Adults (307-902)
1q21.1 deletion size and associated clinical presentations
Cerebro-Oculo-Nasal Syndrome with Schizencephaly: A Case Report and Literature Review of CNS Malformations in a Very Rare Syndrome
A Rare 2p11.2 Microdeletion in an Infant with T cell Lymphopenia and an Abnormal Newborn Screen for Severe Combined Immunodeficiency
Exome Sequencing for Neurodevelopmental Disorders and the Effect on Patient Management – a Single Center Experience
Concomitant Mitochondrial Genome Coverage in Whole Exome and Whole Genome Sequencing
One-year Results of Olipudase Alfa Enzyme Replacement Therapy in Children with Chronic Visceral and Neurovisceral Acid Sphingomyelinase Deficiency
Analysis of X-Inactivation status in a Rett Syndrome Natural History Study Cohort
Ocular Features in Jeune Syndrome and Other IFT140-Related Ciliopathies
Experience Of Targeted Exome Analyses Of 130 Patients With Diverse Inborn Error Of Immunity Phenotypes
SouthSeq: Genome sequencing as a frontline genetic test in the NICU
A Combination of Long-range PCR and Long-read Sequencing Resolves Common, High-risk Dark and Camouflaged Carrier Screening Genes
Phenotypic variability within and between Loeys-Dietz syndrome-spectrum disorders
Fascioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping
Characterization of partial trisomy chromosome 11q in a patient with congenital anomalies and literature review
Characterization of liver GSD IX γ2 Pathophysiology in a Novel Phkg2-/- Mouse Model
Variable expressivity of Coffin Lowry syndrome in a female patient: a case report
Towards Implementation Whole Genome Sequencing as a First Tier Test in Genomic Testing
Measuring P