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2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
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Welcome to the 2023 Digital Edition of the ACMG Poster and Abstract Gallery.

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Contains (747)
Single Center Experience with the Massachusetts State Newborn Screening Pilot Program for Mucopolysaccharidosis Type I, Pompe Disease and X-Linked Adrenoleukodystrophy
Increased Identification of Symptom-Free Males with Pathogenic Variants in the ABCD1 Gene
AN OVERVIEW BETWEEN THE CORRELATION OF BONE MANIFESTATIONS AND THE VARIANTS OF GBA GENE IN GAUCHER DISEASE
Real-World Clinical Profiles of Patients With Alpha-Mannosidosis: Baseline Evaluations From the SPARKLE Registry
Head-To-Head Trial of Pegunigalsidase Alfa vs. Agalsidase Beta in Fabry Disease: Phase 3 Randomized, Double-Blind, BALANCE Study 2-Year Results
Long-Term Safety and Efficacy of Pegunigalsidase Alfa Administered Every 4 Weeks in Fabry Disease: 2-Year Interim Results from BRIGHT51
juMPStart: Phase 1, Open-Label, Dose-Escalation Safety and Efficacy Gene Therapy Study Evaluating HMI-203 in Adults with MPS II
pheEDIT: A Phase 1, Open-Label, Dose-Escalation Safety and Efficacy Gene Editing Study Evaluating HMI-103 in Adults with Classical PKU
GENETICS PREVALANCE OF CYSTINE STONE: A 6 YEAR LONGITUDINAL COMPARISON
The Impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency on the Family
X-linked Adrenoleukodystrophy After Implementation of Newborn Screening: A Reference Laboratory Perspective
Measuring Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)
Congenital Erythropoietic Porphyria: Variable Age of Onset of Porphyrinuria, an Indicator of Disease Severity and Correlation With Genotype
First-in-human Phase 1/2 trial of intravenous FBX-101 with Cord Blood Transplantation increases GALC, brain and motor development in Infantile Krabbe
Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care
Results of an Open-label, Single-Center, Clinical Study Evaluating the Safety and Tolerability of Pentosan Polysulfate Sodium in Mucopolysaccharidosis I Subjects
Donor Organ Failure: The Importance of Donor Heterozygosity in a Case of Primary Hyperoxaluria Type 1
Clinical Availability of Functional Assays: Identifying Assays at Risk and Pathways to Ensure Appropriate Patient Care
MEXICAN CLINICAL AND MOLECULAR REGISTRY OF MUCOPOLYSACCHARIDOSIS TYPE VII
Use of Growth Hormone in a Patient with Glycogen Storage Disease Ia: A Cautionary Tale
Long-Term Follow-Up of Cipaglucosidase Alfa/Miglustat in Ambulatory and Non-Ambulatory Patients with Pompe Disease: An Open-Label Phase I/II Study (ATB200-02)
People and families affected by GSDIa: An analysis of narrative accounts written by caregivers and individuals living with GSDIa
The Clinical Utility of Plasma Lyso-Gb3 in the Diagnosis of Fabry Disease in Infants and Adults
Next Generation Sequencing in the Diagnosis of Acute Hepatic Porphyrias (AHP): Unraveling the Molecular Basis of AHP in Brazilian Patients
Sapropterin Therapy in DHPR Deficiency: Overcoming Barriers in theTreatment
Severe central apnea in two siblings with ALG8-CDG
Analysis of Glycosaminoglyans in Biological Fluids Reveals Diverging Trends in Heparan Sulfate, Dermatan Sulfate and Chondroitine Sulfate Concentrations with Age
Improved Neurocognitive Outcomes in Neuronopathic Mucopolysaccharidosis Type II: A Case of Early Hematopoietic Stem Cell Transplant
The Effects of the Pharmacological Chaperone Sepiapterin on Phenylalanine Hydroxylase Activity of Common Variants in Phenylketonuria
Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria
Fabry Disease: Genotype/Phenotype Correlations for 17 Novel GLA Mutations By GLA Activity & Plasma Lyso-Gb3 Levels
Systematic Literature Review of the Prevalence and Severity of Somatic Comorbidities in Adults With Phenylketonuria
Correlation of Alpha-glucosidase Activity with Genotype: Retrospective Review of Infants Tested Following an Abnormal Newborn Screen
Assessment of the Impacts of Sample Matrix on Blood Acylcarnitine Determinations
Estimating the carrier frequency and prevalence of inborn errors of propionate and cobalamin metabolism using population databases
Atypically Mild Ethylmalonic Encephalopathy Expands Phenotypic Spectrum
Masked by Chronic Substance Abuse, and Blindsided by a Multi-Enzyme Complex Deficiency: An Intriguing Case Report
Hypoglycemia as an Initial Presentation of Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Syndrome
Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency(PDCD) and other mitochondrial disorders(MtDs)
Reducing Delays of Dextrose Administration in Patients in Acute Metabolic Crisis
Real-World Major Clinical Events and Healthcare Resource Use Among Patients with Long-Chain Fatty Acid Oxidation Disorders in the United States
A next generation sequencing strategy for a comprehensive molecular diagnosis in Chronic Lymphocytic Leukemia: Mexican Experience
The Status of Germline Variants of Unknown Significance in Minorities: Middle Eastern Patients with HBOC
Pharmacogenetic profile for NUDT15 and TPMT in a Peruvian population with pediatric acute lymphoblastic leukemia
Involvement of MLH1 and MSH2 genes in hereditary susceptibility to CRC in the Moroccan population
Correlation between clinico-biological elements and the type of BCR-ABl transcripts in chronic myeloid leukemia
Novel frameshift MLH1 germline mutation in a Moroccan Lynch syndrome family
The Expression Profile of ABCB11 Gene in Hepatocellular Carcinoma and Its Association with Clinical Outcomes
Establishment of a novel functional assay to test ATM Variants of Uncertain Significance
Distribution of Variants and Tumor Presentation in Pediatric Patients Diagnosed with Hereditary Pheochromocytoma Paraganglioma Syndrome
The Prevalence of RUNX1 Gene Alterations in De Novo Adult Acute Myeloid Leukemia Patients
Recurrent Somatic Copy Number Alterations and Their Association with Gene Expression Levels on Cancer Genes in Ovarian Serous Cystadenocarcinoma
Creation of the Ontario Hereditary Cancer Research Network (OHCRN)
Association of high FASLG gene copy number in Burkitt lymphoma with reduced survival probabilities
Three-Dimensional Nuclear Telomere Remodelling Defines Mechanisms of Recurrence in Gliobastomas
Characteristics of Participants Who Opt to Receive Secondary Findings in SPARK
Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives
Reanalysis of Intronic Variants Reveals Novel Likely Pathogenic DICER1 Splice Variant in Pleuropulmonary Blastoma Proband
Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-Year Experience from a Single Diagnostic Laboratory
ATM and PALB2 Variant Curation Guidelines Progress Update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel
Development and validation of an NGS assay for the detection of clinically actionable genetic variants in DPYD and UGT1A1
Prospective Longitudinal Validation of a Breast Cancer Risk Prediction Model in a Cohort of 130,058 Individuals
Feasibility of a Traceback Approach to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study
A GENOME-FIRST APPROACH TO GERMLINE CHEK2 CANCER RISK IN THE GEISINGER AND UK BIOBANK COHORTS
Variant Overlooked: A Partial Deficiency TP53 Allele that Skirts Interpretation Criteria
Identification of Novel Variant in WT1 Gene in African-American Girl with Denys-Drash Syndrome
Feasibility and Initial Participation in Traceback Cascade Screening Programs for Ovarian Cancer Implemented at Three Integrated Health Systems
Detection of Polysomy 12 in Soft Tissue Tumors - Clinicopathological and Fluorescence in Situ Hybridization (FISH) Studies of Five Cases
Discerning the Meaning of Cancer Predisposition Variants in a Pediatric Cancer Cohort
Germline Variants in Genes Associated with Parkinsonism in Cancer Patients: a Case Report
Comprehensive Functional Analysis of CHEK2 Variants: A Novel Approach to Classify Hereditary Cancer Syndrome Variants of Uncertain Significance
Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample. How Long-Range PCR can solve homology?
The ClinGen ENIGMA BRCA1/2 Expert Panel: a dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2
Diagnostic dilemma in a pediatric high grade brain tumor with the ETV6-NTRK3 gene fusion
Colon cancer is uncommon in Lynch sydnrome patients having colonoscopy with chromoendoscopy
ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer
BRCA1 Germline Variant Driving a Case of Colon Cancer
Identification of PALB2 variants and associated cancers in a large, unselected healthcare population
Looking beyond Cancer Risk: Additional Implications of Hereditary Cancer Testing
Incidental findings in FH and SDHA genes - navigating cancer risk assessment and follow-up recommendations
Microsatellite Instability and High Tumor Mutational Burden is Concordant with Loss of Mismatch Repair Proteins
Discrepant Germline Genetic Testing for Inherited Bone Marrow Failure Syndrome in a Patient with Myelodysplastic Syndrome
Mosaic Li Fraumeni Syndrome Identified in Patient with a Previously Presumed Germline Variant Following Preimplantation Genetic Testing: A Case Report
Integrated Analysis of Cell-Free DNA for the Detection of Malignant Peripheral Nerve Sheath Tumors in Patients with Neurofibromatosis Type 1
What's Trending: Comparing Variant of Uncertain Significance (VUS) Rates in Cancer Predisposition Genes Over Time in Black and White Individuals
Genetic, pharmacogenetics and outcomes in a cohort of pediatric acute myeloid leukemia patients in two reference centers from Colombia.
NGS assay for simultaneous screening of DNA and RNA provides a comprehensive solution guiding clinical management of ALL patients
Unfavorable Disease Progression in patients with Chronic Myeloid Leukemia and Concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16
Genome mapping for causative familiar association in polycystic ovarian syndrome in Arabian Women
A Male Patient with mild Osteopathia Striata with Cranial Sclerosis, Expanding The Phenotypic Spectrum
Clinical and MRI Correlations in GM1 Patients: Finding Biomarkers to Predict Treatment Response with Gene Therapy
QRICH1-related disorder: Phenotype expansion versus blended phenotype
Clinical Whole Genome Sequencing for a Highly Consanguineous Population in Low-Resource Settings-Experience from an Academic Medical Center in Pakistan
TPRV6 Related Disorder in a Patient with Suspected Osteogenesis Imperfecta (OI)
Mosaic Variant in RHOA in an Adolescent with a Multisystem Disorder Composed of Congenital and Progressive Anomalies
Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
Expanding the Differential of Arthrogryposis: A Neonatal Presentation of Loeys-Dietz Syndrome
Correlating UBE3A enzyme activity with clinical severity in Angelman syndrome
QTc Prolongation in Rett Syndrome: Correlation with Genotype
Population based reporting of ACMG78 secondary findings using Semi-Automated Variant Interpretation software for variant prioritization and curation
Kidney Features in Patients with a Molecular Diagnosis of Birt-Hogg-Dubé Syndrome: A Case Series
Heterozygous loss-of-function variants in IFT140 are associated with polycystic kidney disease
The Influence of Monogenic Kidney Disorders on the Risk of Kidney Transplant Rejection
Phenotypic Insights into Newly Established Moderate Effect Genes for Autism Spectrum Disorder
Updated clinical practice guidelines for managing children and adults with 22q11.2 deletion syndrome
Functional Analysis Provides Insight into Missing Heritability
Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics
Biallelic Variations in ATP13A2 Manifesting with a Complicated Motor Neuron Disease Phenotype
Triple molecular diagnosis of Wolf Hirschhorn syndrome, 20p duplication syndrome, and Frontotemporal dementia and/or amyotrophic lateral sclerosis.
MCF2 Missense Variant in a Patient with an Aarskog-Scott Syndrome-like Phenotype
Genotype-Phenotype Correlations in a Female With a Chromosome Xp11.23 Deletion including PORCN and EBP
Molecular Basis of Adducted Thumbs Syndrome in the Old Order Amish Community
Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program
Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami Clinical Site
Association of heterozygous variants in the GBA gene with lewy body dementia
Report on a Patient with a 28 Mb Chromosome 2p Duplication at 2p22.2p14 The Largest 2p Duplication Described to Date
Whole-Genome Sequencing in the NICU: Improving Healthcare through Precision Medicine
Cherubism in Two Generations of an African American Family
Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss and Deafness
Evaluating the utility of gene expression profile testing in pediatric melanoma: a Case Series
Development of a Maternal-Fetal Questionnaire to Aid in the Improvement of Prenatal Care for Lymphatic Anomalies
Case Report: Phenotypic Features Among Four First-Degree Relatives with 17q11.2 Microduplication Syndrome
Skeletal Dysplasia Due to a Known Variant of the MAP3K7 Gene with Unique Findings in a Newborn
Clinical Characteristics and Management of Patients with Mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey
A homozygous recurrent in-frame deletion in MED22 causes a novel neurodevelopmental disorder
Biallelic pathogenic variants in ITFG2 are associated with a a syndromic megalencephalic neurodevelopmental syndrome
Recurrent variants in subunits of the Human Mediator complex affect brain development and lead to severe neurodegenerative diseases
Functional Studies in ADAMTSL2-Related Geleophysic Dysplasia Provide Insights Into Pathogenesis and Potential Treatment Targets
Initial Characterization of a Novel Mouse Model of Autosomal Dominant LZTR1-Noonan Syndrome
Causes of death and associated factors in patients with trisomy 18 syndrome and long-term survival
Seizures in trisomy 18: prevalence, description, and treatment
Aphallia: A Complex Case of a Rare Anomaly
X-linked Inheritance and it's exceptions: Lessons of X-Inactivation and Cellular Interference
Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations
Novel Partial MBD5 Duplication in A Patient Expands and Refines the Phenotypic Spectrum of 2q23.1 Duplication Syndrome
Ethnically-unique disease burden and limitations of current expanded carrier screening panels
Microcephaly in Atypical Silver-Russell Syndrome Caused by Defects in PLAG1
Complete Resolution of Genes with Highly Homologous Gene Family Members or Pseudogenes Using Long-read PacBio HiFi Sequencing
CIPA presented as Fever of Unknown Origin in a patient with a novel variant in NTRK1
Novel Molecular Diagnoses in Individuals with Holoprosencephaly and Prior Negative Sequencing
Seeing Double - A case series of patients with multiple genetic diagnoses in a small genomics clinic
The Rare in the Common: Unsuspected Fabry Disease
Long-Term Outcomes of Adult Siblings with TRIT1-related Disorder
TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism
Testosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes in Infants with 47,XXY/Klinefelter Syndrome: The TESTO Study
A Truncating Variant in RFX7 Causing Developmental Delay and Intellectual Disability.
NBEA-related neurodevelopmental disease: expansion of the phenotype and second patient with clinical images
Cognitive Decline, Parkinson-like Features, and Mutism lead to Diagnosis of MECP2 in a 46 Year Old Male
Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
The Diagnostic Odyssey: A Review of Two Patients with Adult Polyglucosan Body Disease
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies
Williams syndrome: An infant with an unusually large deletion at 7q11.23 and unique clinical presentation
A Novel Heterozygous Frameshift Variant in ITIH5 Associated with Type II Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome
Association of Fetal APOL1 Risk Variants with Adverse Maternal Outcomes in Preeclampsia
Variants in Obesity-Related Genes in a Population with Early-Onset Obesity
Uncovering Rare Obesity Genetic Testing Program: Utility of Genetic Testing in Pediatric and Adult Patients with Obesity
Phenotypic Profiles of Rapid Whole Genome Sequencing in Pediatric Patients: a Single Center Study
Atypical Sotos Syndrome with Normal Length and Late Hyperinsulinemic Hypoglycemia Presentation
Nutritional Markers Of Histamine Intolerance in Ehlers-Danlos Syndromes
Considerations of Genetic Testing in Autism Spectrum Disorder: Lessons learned from 10 years of experience in Mexico
Rapid Genome Provides Unexpected, Highly Actionable Answer for Critically Ill Patient
Yield of Different Genomic Testing Approaches in Infants with Congenital Heart Disease
Novel Biallelic Variants in the CSMD1 Gene in a Child with Cerebellar Ataxia and Developmental Regression: A Case Report
Establishing preclinical efficacy for the first AAV gene therapy for GSD IX γ2 across stages of progressive liver disease
Comprehensive Newborn Hearing Screening in Generation Genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)
More Compassion Please: Assessing Parental Perceptions After Receiving a Diagnosis of Down Syndrome
Real World Experience of Velaglucerase Alfa in Children Under 4 Years of Age with Gaucher Disease: A Retrospective/Prospective Study
Highlights in the treatment of Fabry's disease in female pediatric patients
The ClinGen Pharmacogenomics Working Group: Developing a Framework for Gene-Drug Response Clinical Validity
Never Two Late: A Dual Diagnosis of Noonan Syndrome and Hypophosphatasia in an Adolescent Patient with Unusual Presentation.
Biallelic Loss-of function Variants in LDB3 Deleting the Long Form of the Protein Lead to Neonatal Left Ventricular Noncompaction Cardiomyopathy
Characterization of Free Sialic Acid Storage Disorder Clinical Presentations
Adverse outcome in FAM111A variant: a case report
SCANs not Separate Autosomal Recessive Spinocerebellar Ataxia group? - Toddler with Homozygous Novel Variants for SCAR2, SCAR23 and Axonal Neuropathy
A Case of Multiple Hemangiomas and Arteriovenous Malformations in a Patient with Known Greig Cephalopolysyndactyly Syndrome.
Phenotypic and genotypic spectrum of Arthrogryposis Multiplex Congenita using Next Generation Sequencing: Experience from a tertiary care centre in India
Cantu Syndrome: Expanding the Phenotype of this Rare Autosomal Dominant Condition
A Clinical-Translational Model of Leukoencephalopathy with Calcifications and Cysts
Urine Glucose Tetrasaccharide as a Potential Pharmacodynamic Biomarker for the Development of New Treatments for Glycogen Storage Disease Type III
Vestronidase Alfa for the Treatment of Mucopolysaccharidosis VII (MPS VII): Updated Results from a Novel, Longitudinal, Multicenter Disease Monitoring Program
Validation of Myeloid Neoplasm Next Generation Sequencing Panel for Acute Myeloid Leukaemia and Myeloid Malignancies in Singapore
Mitochondrial Dysfunction in Rett Syndrome: Searching for Biomarkers
Heterozygous ACTB Pathogenic Variant Causing Baraitser-Winter Syndrome Presenting With Tracheal Ring, Intestinal Atresia, and Neonatal Diabetes
Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: update from Phase 3 extension study
Persistence of Growth Promoting Effects in Children with Achondroplasia Over Seven Years: Update from Phase II Extension Study with Vosoritide
The eXtraordinarY Babies Study: Prevalence of Congenital Anomalies and Medical Conditions Among Neonates and Infants with Sex Chromosome Trisomies (SCT).
GestaltMatcher Database - a FAIR database for medical imaging data of rare diseases
Long Term Efficacy and Safety of Carglumic Acid Treatment in Patients with Organic Acidemia in East Asia Population
Mutation spectrum of Wilson disease in Taiwan
Novel Homozygous GLDC variants causing Late-onset Glycine Encephalopathy: A Case report and Updated Review of the Literature
Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
Genetic Testing in an Adult Neuromuscular Clinic: Diagnostic Yield and Testing Strategies
Diagnostic challenges in diverse populations: When genetic testing doesn't tell the full story
Deep phenotyping of Kabuki syndrome to create meaningful and specific biomarkers and outcome measures for clinical trials
Chromosome 6 maternal uniparental isodisomy in a child with global developmental delay
A novel case of a female carrier of a Fragile X full expansion with methylation on the normal allele
SeqFirst: impact of a precise genetic diagnosis on end-of-life decision making in the NICU
Diagnostic Yield and Clinical Utility of Whole Exome Sequencing in Pediatric Cardiomyopathy
Esophageal Atresia with or without Tracheoesophageal Fistula: Genetic Evaluation and Clinical Outcomes
A novel TGFBR1 splice-site variant identified in a family with Loeys-Dietz syndrome and variable aortic phenotypes
A Familial Case of CAMK2B Mutation: Two Brothers with Severe Intellectual Disability Inherited from Healthy Father
Novel Skeletal Anomalies with KMT2A Pathogenic Variants: Expanding the Phenotypic Features of Wiedemann Steiner Syndrome
Experience in Delivering Free of Cost Gene Therapy for Spinal Muscular Atrophy Using the Managed Access Program In Pakistan
Moving beyond cascade genetic testing in first-degree relatives by using genealogy data to identify and genetically test distant relatives
Missing heritability for supravalvar aortic stenosis identified in long range enhancer for elastin
Ectodermal Dysplasia- A Case Report
Case Report: PHACE-Like Syndrome With TMEM260 Compound Heterozygous Variants
Diagnostic Yield of Genetic Testing for Non-Syndromic Early-Onset Obesity in a Multidisciplinary Pediatric Obesity Clinic
A de novo Xq13.2-13.3 Duplication Associated With Non-Syndromic Intellectual Disability
Clinical Features and Diagnostic Management of Infant with Encephalocraniocutaneous Lipomatosis and Congenital Hypothyroidism
Natural Medical History Study of Patients with STAC3 Disorder from a Single Center
STAG2 is a Novel Genetic Cause of Atelencephaly
An Exploration of the Neurodevelopmental Phenotype of Two Patients with 48,XXYY During Infancy
SINO Syndrome Associated with Heterozygous KIDINS220 Variants: A More Severe Presentation and Maternal Mosaicism
Characteristics and Genetic Testing of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy (HIE)
De Novo GATA4 deletion in a 46,XX Boy with Hypospadias and Pulmonic Valve Stenosis
Sporadic and Inherited Genetic Variants Causing a Blended Phenotype in a Patient with Kabuki Syndrome and Loeys-Dietz Syndrome, Type 3
Expanding the Phenotype of Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient With Autism Spectrum Disorder
Identification of novel proteins for venous thromboembolism by integrating genome-wide association data and human blood proteomes
Homozygous ALDH18A1 Variant in Siblings Adds to Understanding of Early Disease Progression in Autosomal Recessive Hereditary Spastic Paraplegia Type 9B
Novel de novo Intronic KAT6B Variant in 9-year-old Female Adds to the Wide Phenotypic Spectrum of KAT6B Disorders
Health-related quality of life in achondroplasia: findings from LISA, a multinational and observational study in Latin America
Oligogenic Basis of Premature Ovarian Insufficiency
Cerebellar Ataxia with Hypogonadism: Clinical Clues to Diagnosis Adult PMM2-CDG Patients
Harnessing the Power of Genomics: Development of a Web-Based Education Portal in Genomic and Personalized Medicine for Non-Expert Physicians
A De Novo Gain-of-Function ANO5 Variant in a Patient with Anoctaminopathy5-related Muscular Dystrophy Challenges the Skeletal/Muscular Phenotype Dichotomy into Question
Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs
Small molecule, high throughput drug discovery for Kabuki Syndrome
WES identifies a pathogenic variant in NF1 gene in an Iranian girl with Neurofibromatosis-Noonan syndrome and growth deficiency
Expanding the Phenotype of DREAM-PL: A Case Report
Case Series Evaluating LZTR1 Variant Within One Family
The Utah NeoSeq Project: Developing and Implementing Genomic Sequencing in Acute Neonatal Care
Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation
GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations
Five-Year Retrospective Case Series of Genetic Findings in Patients with Planned Surgical Interventions for Cardiac Left-Right Patterning Differences
Is 22q11.2 deletion syndrome truly less common in Black patients?
Phenotypic Findings Associated with Nested 22q11.2 Deletions
'Don't Paint Us All with the Same Brush': Information Needs in Adolescents with Differences of Sex Development
XLH Molecular Diagnoses and the PHEX Gene Variant Landscape: Sponsored Hypophosphatemia Gene Panel Testing Findings from 2019 versus 2022
Narcolepsy in Ehlers-Danlos syndrome
Pancraniosynostosis and Macrocephaly in a Four-Year-Old Male Without Molecular Diagnosis: Treated but Unsolved
An Isolated ELN Gene Mutation in a Patient with a Complicated Presentation of Hypermobility
RNA-sequencing for Diagnosis and Novel Gene Discovery in Heritable Thoracic Aortic Aneurysms and Aortic Dissections (HTAD)
Characterization of Childhood Neurodegeneration and Associated Ataxia in UBTF-Related Disorder
A single institution analysis of in-house whole genome sequencing within pediatric and neonatal intensive care units (The PISCES Study)
PPA2 Deficiency Phenotype
The Impact of No-Cost Testing Programs for Inherited Retinal Degeneration on Post-Testing Follow-up Genetic Services
Survival in Eteplirsen-treated vs Duchenne Muscular Dystrophy Natural History Patients: An Indirect Treatment Comparison Using Real-world Data
Multiple Intestinal Atresia With Combined Immunodeficiency, a New Kid in the Block
First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings
The NIH INCLUDE Project: An Opportunity to Advance Quality-of-Life Goals for a Diverse Population with Down Syndrome Through Research
Case Report: NFIA-related Disorder Caused by Inherited Missense Mutations Leading to Variable Presentations Among Family Members
Two New Cases of 9q21.13 Microdeletion Syndrome and Review of the Literature
Heterozygous variant of TGFB3 in a patient with an atypical phenotype of Loeys-Dietz Syndrome
TSC1/TSC2 Mosaicism is Found in ~13% of Individuals with Tuberous Sclerosis and is Associated with a Distinctive Phenotypic Severity
A Functionally Uncharacterized, Novel GRIA2 Variant: Advances in Targeted Epilepsy Management
Essential Role of Genetic Counseling in a Multidisciplinary Immune Dysregulation Program
Characterizing clinical actionability in the context of polygenic risk assessment
Beyond SMN1: review of genotype-phenotype correlation in individuals with >=4 SMN2 copy numbers
Uniparental Disomy of Chromosome 19 in an Individual with Oculocutaneous Albinism, Neurodevelopmental Disorder, and Failure to Thrive
Adjusted Polygenic Score: Translation of a New Concept for Cardiovascular Disease Prevention and Management
Expansion of the Phenotype in Rubinstein-Taybi Syndrome Type 2 with the Largest Familial Case
Audit of Therapy for Lysosomal Storage Disorders at a Genetic Clinic in Mumbai during Covid-19 Pandemic
Long-Chain Fatty Acid Oxidation Disorder Genotypes, Clinical Signs and Symptoms, and Newborn Screening History from a Gene Panel Sponsored Program
Modeling Cellular Evidence: Scalable Approaches for Generating, Validating and Incorporating Data from High-Throughput Functional Assays to Improve Clinical Variant Interpretation
Triple diagnoses with overlapping phenotypes: recommendations and reflections
Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy
A case of ultra-rare, X-linked HSD10 mitochondrial disease in a female patient.
Incorporating Regulatory Information Improves Interpretation of Noncoding Variants
Large Deletion of 5q12 With Dysmorphic Features, Poor Growth, Delays, Behavioral Anomalies, and Seizures: A Case Report and Literature Review
A Case of Niemann-Pick Disease Type C from Suspected Uniparental Disomy of Chromosome 18
Compound Heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with Heterotaxy Syndrome
Genetic Testing Strategies for Rare and Undiagnosed Neurogenetic Conditions: Utilization of Exome Sequencing, Metabolic, and Panel testing
Single vs. Dual Disease Causing Variant Load in a Pediatric Cohort with Congenital Anomalies and Cancer
Wilms tumor in a patient with FBXW7-related neurodevelopmental syndrome
A Comprehensive Investigation of the Anthropomorphic Measurements in males with 47, XXY & the Impact of Early Hormonal Treatment (EHT)
A rare case of Ferguson-Bonni Neurodevelopmental syndrome with cleft palate
IMPORTANCE OF THE DETECTION OF GENETIC DISEASES ASSOCIATED WITH CARDIOVASCULAR RISK IN PEDIATRIC AGE
Rates of cardiomyopathy in probands and their family members from a large, unselected healthcare cohort
Clinical burden and health behaviors associated with genomic screening for homozygous HFE C282Y variants in an unselected health care system
The Youngest Son of Abraham Lincoln: A Possible Case of 22q11.2 Deletion Syndrome
Its time to listen to the families; a disease concept model for Gould Syndrome.
Episodic irritability in an ultra-rare genetic disorder associated with NACC1: imperative to increase awareness and formulate better therapeutic interventions
A Rare Combination: Novel Presentation of Achondroplasia with a Complex Chromosomal Rearrangement
Characterization of Electronic Health Record Features in Critically Ill Neonates with Genetic Diagnoses
Evidence for a Pathogenic Variant in a Patient with Generalized Arterial Calcification of Infancy
Importance of Neuromonitoring during Acute Crises in Small Molecule and Energy Deficiency Neurometabolic Disorders - Data over 10 Years
Incidental finding of MECP2-related Disorder in a Male Infant With Chromosome 15q11.2 Microdeletion (Burnside-Butler) Syndrome
Clinical genome sequencing and targeted mouse modeling in nonverbal or minimally verbal individuals with autism spectrum disorders and neurodevelopmental delays
Genetics Bridge The Link Between Mitral Valve Prolapse, Arrhythmia and Sudden Death!
Fifth Case of MYH11-Associated Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Identified in Patient with Missense Variant and Whole Gene Deletion
Dual Diagnoses of Mosaic SRY Deletion and HSD17B3 Deficiency in a Patient with Discordant Fetal Sex
Characterization of Clinically Diagnosed Androgen Insensitivity Syndrome (AIS) and its Mimics
Atypical presentation of central precocious puberty in a patient with RHOA-related disorder
ELEVATED LEVELS OF CXCL16 IN SEVERE COVID-19 PATIENTS: EFFECTS ON MORTALITY
Two siblings with novel compound heterozygous variants in the EXTL3 gene
Project Searchlight Study Methodology: Real-World Evaluation and Validation of an Algorithm to Identify Persons at Risk of Gaucher Disease
A 7.4 Mb Duplication of 6p22.1-22.3 in a Cognitively Normal Adult with a History of Multiple Congenital Anomalies
Expanding the Phenotypic Description and Allelic Heterogeneity of the KAT6B-Related Disorder
A Case Report of an Egyptian Family with Hypercholesterolemia Diagnosed with a Unique LINE-1 Insertion in the LDLR Gene
Long-term safety and sustained functional benefit in patients with DMD 4 years post-treatment with delandistrogene moxeparvovec: a Phase 1/2a study
Diagnoses Made Following Non-Diagnostic NGS testing: One UDN Clinical Site's Experience
Gene therapy base editors reshape single-molecule chromatin architecture of γ-globin promoters
Impact of genetic counseling using GUÍA on diverse families' understanding of genomic results: finding from the NYCKidSeq randomized controlled trial
Epidemiology of X-linked Adrenoleukodystrophy Beyond the Western World: a Systematic Review of the Literature
Novel Variant in DSP Associated with Lethal Acantholytic Epidermolysis Bullosa and Bradyarrhythmia
Expanding the Phenotypic Spectrum of Currarino Syndrome with Cardiac Anomalies
Serial Amnioinfusion for Fetal Angiotensin Converting Enzyme Deficiency: A Case Report
Creating Developmental Growth Curves and Milestone Charts for Infants with Sex Chromosome Trisomy Using Data from the eXtraordinarY Babies Study
A Comprehensive Investigation in the Anthropomorphic Measurements of Males with 47,XXY (Klinefelter Syndrome) from 6-18 years
A Homozygous Novel Pathogenic Variant in SYNJ1 and its Clinical Presentation
Role of CPK in Differential Diagnoses of Isolated Elevated Hepatic Transaminases to Uncover Occult Myopathies
Proof of Concept Core Biopsy Technique of Vascular Malformations for DNA and RNA Sequencing with Novel Identification of PKD1 Variant
The contribution of mosaicism to genetic diseases and presumed de novo mutations
Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Ring Chromsome Containing RAI1
Gabriele-de Vries syndrome: exploring the phenotype of a recently described genetic disorder
WGS/WES as Unique Diagnostic Tool for the Genetic Screening of Patients with Craniosynostosis
A Homozygous POU3F2 Polyproline Tract Expansion Is Associated with Severe Psychomotor Delay, Developmental and Epileptic Encephalopathy, and Ichthyosis
Polygenic risk scores improve 10-year risk prediction of coronary artery disease in individuals at borderline and intermediate clinical risk
Not All Severe Combined Immunodeficiency Patients are Created Equal and When Rapid Genetic Testing Matters
Cortical Brain Malformations in Two Siblings with Poretti Boltshauser Syndrome: A Possible Phenotype Expansion
Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis
Quantification of the Surgical Burden Associated with Achondroplasia: a Comprehensive Review of the Literature
Objectives and Design of the Acorn Study: A Non-Interventional Study Evaluating Long-term Safety in Achondroplasia Patients Treated with Vosoritide
Vosoritide Therapy in Patients With Achondroplasia: Early Experience and Practical Considerations for Clinical Practice
Kabuki syndrome and Metachromatic Leukodystrophy, dual diagnosis in a female patient: a case report
Identification of novel variants and phenotypic expansion in OGT-CDG
Broadening the Phenotype of ABL1-Associated Disorder
Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure
Unraveling the Phenotypic Consequences of Variation in the TTN Gene
Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature reivew
Somatic RUNX1 Variants in Hematologic Malignancy: Could they be germline?
Calypso: a web-based system for team-based, longitudinal genomic care
De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities
Plasma Lyso-Sphingomyelin, Biomarker for Acid Sphingomyelinase Deficiency: Correlations with Baseline Disease and Response to Olipudase Alfa Treatment in Clinical Trials
Variants in MED12 are Associated with Left Ventricular Non-Compaction and Arrhythmia
Expanding the neurodevelopmental phenotype of HIVEP2-related disorder
KDM5C-related X-Linked Intellectual Disability: A Review of Natural History and Expansion of the Phenotype
An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces
Novel Genetic Variant of Weyers Acrofacial Dysostosis with Punctate Epiphyseal Calcifications From Maternal Autoimmune Disease and Review of the Literature
VUS in RHOBTB2 Gene Detected on Rapid Whole Genome Sequencing in a Patient with Worsening Seizures and Developmental Regression
Replication of Genetic Variation Associated with COVID-19 Clinical Outcomes: The GENCOV Prospective Cohort Study
Clinical and Basic Investigations into Congenital Disorders of Glycosylation: SLC35C1-CDG the Fucose Golgi Transporter
Early-Onset Psychosis - Exploring the Psychological Phenotype of DLG4-Related Synaptopathy
Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
Complex Lymphatic Anomalies: Design of a Prospective Natural History Study
Newborn with 4 syndromes (Down, Turner, Xp11.22 duplication and 3q duplication) characterized by G-banding, FISH, microarray and optical genome mapping
Electrophysiological functional studies of an ATP1A3 variant in an individual with a relatively mild neurological phenotype reveal loss of function
Exploring the Effects of a Point Mutation in the 5' UTR of APC Found in a Family with Colon Cancer
Deciphering the Genetic and Molecular Mechanisms of Disorders of Sex Development in Senegalese Children in Sub-Saharan Africa
Loss-of-Function EGFR mutation in Bartter Syndrome with Neonatal Epithelial Autoinflammation
The impact of modulator therapies on lipids and fatty acids profiles in children and adolescents with Cystic Fibrosis.
Disease-Causing Variants in Inherited Retinal Diseases Genes in an Ethnically Diverse Pakistani population--Experience from an Academic Medical Center
SATB2-Associated Syndrome Severity Score: Genotype/phenotype Correlations and the SATB2 Portal
Newborn Screening for Spinal Muscular Atrophy in South Florida: The Clinical Experience
Initial Evaluation of Newborn Screening for X-Linked Adrenoleukodystrophy in South Florida
Self-Reported Genetic Testing Behaviors for Physicians Treating Pediatric Patients with Seizures of Unknown Etiology
Patients' and Parents' perspectives on the use of digital tools to deliver genetic services.
Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using a Telehealth Platform
Fragmented systems of care: An overview of Canadian health system care models for hereditary cancer syndromes
Co-Designing Genetics and Genomics Educational Modules for Community Engagement
Limitations of automated approaches to utilizing the EHR to identify high-risk patients for hereditary cancer genetic testing
Inter-Center Variation in the Availability and Provision of Genetic Medicine Services in Level IV NICUs
Characterizing Research on the Diagnostic Odyssey in the United States: A Systematic Mapping Review
Implementation of an Innovative, State-based Approach to Improving Access to Genetic Services
The Digital Genetic Assistant: Effectiveness of a Novel Patient Approach to Carrier Screening
Professionals' Perspectives on the Use of Digital Tools to Support Patient Recontact in Clinical Genetics
The Clinician-reported Genetic testing Utility InDEx in the NICU (C-GUIDETM-NICU): Quantifying Genome-wide Sequencing Utility in Neonatal Critical Care
Improving identification of patients at an increased risk of cancer within a large healthcare system
Understanding Clinician needs and preferences with respect to returned NBS results.
Establishment and Evaluation of a Cancer Family History Genomics Training for Community Health Workers
A Content Evaluation of ACGME-Accredited Categorical Medical Genetics and Genomics Residency Webpages
Use of Genetic Services Among Patients with Prostate Cancer at a Safety-Net Hospital: A Mixed Methods Study
Real-World Evidence Demonstrating Why Genome Sequencing Should Be Recommended as the First-Tier Genetic Test
Health System Direct Contact of Relatives for Cascade Testing: Reach and Initial Acceptability in a Prospective Intervention Study
What are patients' perspectives on the privacy and security of digital genomic tools? A qualitative study
Genomic Medicine and Primary Care: The Alabama Genomic Health Initiative
Effectiveness of Group Genetic Counseling Session via Metaverse
Assessing the Collaborative Relationships Among Diverse Stakeholders Working to Expand Access to Genetic Services in Puerto Rico
The need for a longitudinal digital health platform to implement large scale genomic programs
Clinical Utility of all Types of Medically Relevant Secondary findings: A Systematic Evidence Review
Effects of Hurricane Maria and the COVID-19 Pandemic on Genetic Testing at a Diagnostic Reference Laboratory in Puerto Rico
Increasing Equitable Access and Uptake for Hereditary Cancer Testing in Patients with Breast Cancer
Implementation of Genetic Inpatient Consultation Services in Pediatrics: DNA (Discover New Answers) Consult Team
Patients from Historically Marginalized Backgrounds are Referred to Clinical Genetics at Lower Rates in a Large Academic Health System
Genetic Determinism Beliefs Are Associated With Decreased Genetic Testing Utilization and Increased Willingness to Participate in Genetic Research
Reasons for Pursuing Germline Genetic Testing and Family Sharing of Results Among Young Black Women With Breast Cancer
Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of Healthcare Claims Data to Inform Protocol Design
Partnering with patients to explore the psychosocial and socioeconomic impacts of hereditary cancer syndromes
Team-based Genetic Health Care: An Effective System of Care for Delivery of Cancer Genetic Services
Perspectives of Rare Disease Experts on Sequencing Newborns for Treatable Genetic Conditions
Clinical utility of genomic sequencing for hereditary cancer syndromes: an observational chart review
The Effect of Newborn Genomic Screening on Downstream Health Care Utilization and Costs: Evidence from the BabySeq Project
Customization and Implementation of a Tertiary Analysis Platform for Interpretation and Reporting of Germline Variants
Ensuring equity in the delivery of cancer genetic services: Identifying disparities along the care delivery continuum
Engaging primary care patients in population-based risk assessment for hereditary cancer genetic testing: Preliminary outcomes of point-of-care engagement efforts
SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing
Multi-dimensional and Longitudinal Impact of a Genetic Diagnosis for Infants in an Intensive Care Unit
User Experience on Direct-to-Consumer Genetics Testing from A Three-Generation Family and Insights into Future Genetics Testing
Workforce readiness for pharmacogenomics implementation and key elements for sustainment.
A Genome Sequencing Approach to Pharmacogenomic Profiling Across Diverse Population in a Large Health System
Continuing the continuum: Molecular and phenotypic spectrum of ACSL4 intellectual developmental disorder
Development of a Comprehensive Cardiovascular Disease Whole Genome Sequencing Test
AI-Assisted Karyotyping Improves Efficiencies at Scale in the Cytogenetics Laboratory
Validation of a Digital FISH Analysis Workflow in an Academic Reference Laboratory
SMN1 SMN2 Gene-Specific Sequencing Enhances the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing
An Unusual Recombinant Chromosome 6 Derived from a Parental Double Paracentric Inversion
Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: findings from the first real-world dataset
Recognizing the Promise and Potential Pitfalls of Genomic Medicine Through Routine Rapid Whole Genome Sequencing
Beyond genomics: using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing
Evaluating variants in a biobank population using structured evidence from prior classifications (PS1, PM5, and PVS1 criteria)
Expanding the Chopra-Amiel-Gordon Syndrome Clinical and Molecular Spectrum: Two Novel Deletions Involving ANKRD17
Application of ACMG/AMP variant classification guidelines to Alzheimer's disease-associated genetic variation
Somatic Overgrowth and Vascular Malformation: Clinical Utility of Expanded Panel
A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III
Evaluation of Monoallelic MUTYH Variants in Brazilian Patients: Potential Selection Bias
Diagnostic Yield and Copy Number Findings from 500 Clinical Genome Sequencing Cases
Population Genome Screening Identifies Previously Undiagnosed Disease: A Case Series
Optimization of the Diagnostic Aid PhenoVar for the Interpretation of Rapid Whole Genome Sequencing Data in Newborns in Intensive Care
Clinical RNA Sequencing to Clarify Variants of Uncertain Significance and Identify Missing Variants
A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome.
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism
Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders
Confirmation of complex events detected by NGS
Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer syndrome, and Lynch syndrome
SMA Carrier Screening Utilizing SNP Array Technology and Confirmatory ddPCR Reveals an Isolated SMN1 Exon 8 Deletion
Short tandem repeat expansions in the diagnosis of rare Mendelian diseases by whole genome sequencing
Evaluation of mainstream genetic testing for patients with Autosomal Dominant Polycystic Kidney Disease: early experience from the University of Chicago.
SF3B2-Related Cardiac Defects and Hirschsprung Disease without craniofacial microsomia
The nephrocyte actin and tubulin cytoskeleton networks model slit diaphragm structural defects pertaining to podocyte pathogenesis
The elephant in the shROOM: Evidence for SHROOM4 in disease remains limited and conflicting
The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Specifying the ACMG/AMP Variant Sequence Interpretation Guidelines for Congenital Myopathies
Diagnostic yield of copy number variants by exome sequencing versus chromosomal microarray
Investigating the Efficacy of Targeted NGS Panels with Rapid TAT for Pediatric Patients with Narrow Differential Diagnoses
Long-Range PCR and Nanopore Sequencing Method Resolves F8, GBA, CYP21A2, SMN1, and TNXB Variants Using a Single Streamlined Workflow
Genetic Testing and Screening for Spinal Muscular Atrophy in The Middle East
A Case of Hexasomy 15q due to a Tricentric Supernumerary Chromosome 15
Evaluating the Impact of Long Read Genomes in Rare Disease: A systematic analysis of 1000 HiFi Genomes
Exome Sequencing Analysis Reveals Enrichment of Variants in Known Autosomal Dominant Hearing Loss Genes in Patients With Presbycusis
Gene- and variant-specific calibration of in silico predictive models results in reclassification of 28% of missense VUS from ClinGen VCEPs
A four-way t(12;14;22;18) chromosome translocation in a patient with chronic lymphocytic leukemia/small lymphocytic lymphoma: a case report
Importance of Genomic Reanalysis to Uncover Medical Unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
A novel de novo microdeletion at 9q33.3, including LHX2, in a patient with developmental delay and autism spectrum disorder
ROH Pipeline Enables Analysis of Regions of Homozygosity Using Next Generation Sequencing Data
The Occurrence of Noncoding Variants, Copy Number Variants and Variants in Difficult-to-Sequence Genes in Over 10,000 Whole Exome Sequencing Tests
Retrospective review of no-call results by noninvasive prenatal screening and development of a multifactorial scoring to estimate redraw success
A Comparative Analysis of TEK Variants in Patients with Vascular Anomalies
Clinical relevance of mosaic variants detected from exome sequencing data.
Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation
Highly Scalable Pharmacogenomic Panel Testing with Hybrid Capture and Long-Read Sequencing
Potential Clinical Significance of Microdeletions involving both MYH6 and MYH7
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort
Minimizing False Negatives in NGS-based Diagnostic Testing by Optimizing Variant Filtering Strategy
Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping.
An Amplification-based, Nanopore Carrier Screening Panel Resolves Clinically-Relevant Variants in CFTR, SMN1/2, HBA1/2, HBB, and FMR1 in a Unified Workflow
Simultaneous Analysis of 50+ Different Repeat Expansions with Twist Target Enrichment and PacBio HiFi Sequencing
Mosaicism for genome wide homozygosity identified as an incidental finding in two healthy pregnant women
Validation of optical genome mapping as a laboratory-developed diagnostic test for facioscapulohumeral muscular dystrophy type 1
Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome
Genome Sequence Re-Analysis Reveals De-Novo FBXW7 Canonical Splice Variant in Newly Described Neurodevelopmental Syndrome
The recurrent 15q11.2 deletion: A single laboratory experience
Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants
Establishing normative collagen X levels in blood in individuals with achondroplasia: application to understand growth
Genetic findings from multi-gene panel for primary ciliary dyskinesia.
Interrogating the pathologic noncoding genome with tissue-specific multiomics
Retrospective Review of Genetic Testing and Variant Reclassification in Patients With Congenital Cataracts
The Impact of Machine Learning Algorithms in Reducing VUS for Individuals from Underrepresented Populations Compared to Well Studied Populations
Diagnostic Yield of a Custom Targeted Genotyping Panel for Carrier Screening of >2,000 Samples: The Case Against Cystic Fibrosis-Only Testing
Identification of molecular modifiers of disease in a group of systematically phenotyped patients with Cystic Fibrosis
Disease burden of DCM genes newly added to ACMG secondary findings via population genomic screening: Impact of TTN and FLNC
An Analysis of ALPL Gene Variants in Patients With Hypophosphatasia From the Global Hypophosphatasia Registry
The importance of mitochondrial disease testing in young adults with new onset sensorineural hearing loss
Two Years of Newborn Screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check
Development and validation of a clinical nanopore sequencing assay to confirm microdeletions and microduplications
RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation
Reinterpretation of Postnatal Clinical Copy Number Variants: A Practical Approach for Implementation as a Routine Laboratory Practice
Pathogenic Variants Detected in High Homology Segments of the PMS2 Gene in a Brazilian Sample.
How Does Multiomics Help Variant Reclassification?
Historical prospective study of the link between JAK2-V617F and thoracic aortic aneurysm
A universal filter enabling high throughput genomic screening
Hypertriglyceridemia: pancreatitis as a common feature of APOC2 chain-termination variants
An integrative view of COLQ-related congenital myasthenic syndrome
Implementation of Automated Pharmacogenomics Reporting for a Clinically Validated Whole Genome Sequencing Test
Conventional karyotyping meets molecular cytogenetics: Case series of joint chromosomal analysis in two reference laboratories in Colombia
Resolution of Variants of Uncertain Significance by RNA Sequencing
Validation of parent of origin detection for de novo events identified on SNP microarray in a postnatal population
Evaluation of population frequency data for mitochondrial variant interpretation
Genomics as a First-Tier Diagnostic Test for Neonates and Infants with Congenital Heart Disease: A Better Approach than Cyto-Centric Studies
Bionano NxClinical Software Enables Comprehensive Analysis and Interpretation of All Classes of Genomic Variants in Rare Disease Constitutional Testing Applications
High-resolution Analysis of Pathogenic Trinucleotide and Hexanucleotide Repeats, Copy Number Changes, SNVs and INDELs Using Flexible, Easy-to-use Fragment Sizing Instrumentation
A somatic pathogenic variant in PTPN11 in a patient with vascular malformation and hemihypertrophy
RNASeq Analysis Identifies the Pathogenicity of Inherited Synonymous Splice-Region Variant in NEB, Confirming a Diagnosis of Neonatal Nemaline Myopathy 2
An Automated Approach to Report Drafting for Newborn Genomic Sequencing in the BabySeq Project
Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients
Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance
Results of Molecuolar Genetic Autopsies in Florida
Application of Long Read Whole Genome Sequencing to elucidate the molecular etiology of a patient with diagnostic odyssey
Integrating Multiple Genetic Tests Improves the Diagnostic Rate in Genetic Diseases
The NeuroDev Study: Genetic Characterization of Neurodevelopmental Disorders in African Populations
Novel Variants in EFL1 Lead to a Potential Diagnosis of Shwachman-Diamond Syndrome 2
Laboratory Utilization Management System Assists with Familial Cytogenetic Testing: 3 Case Examples
Integration of RNA Sequencing Improves Hereditary Cancer Genetic Testing
Concordance Analysis of Monozygotic Twin Gestations with SNP Technology Identifies Discrepant Chromosome Findings
Detection of non-deletional variants in HBA1 and HBA2 genes through reproductive carrier screening and breakdown by gene, variant, and ethnicity.
Expanded Services Through Hereditary Cancer Panel Cascade Testing: Known Variants vs. Serendipity
Utility of examining 100 metaphase cells in the evaluation of low-level mosaicism
The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory
Incidental detection of chromothripsis in routine blood testing of a patient with breast cancer
MINIGENE SPLICING ASSAY CONFIRMS the PATHOGENICITY of the NON-CANONICAL SPLICE SITE VARIANT c.11+5G>A in RPE65
Investigating Independence of PS3 and PM1 Evidence Categories Using Case-Control Data in BRCA1
Validation and Real-Life Experience of a Comprehensive, Targeted Next-Generation Sequencing Panel for Hereditary Cancer Predisposition
2q11.2 Recurrent CNVs Including TMEM127 - A Collaborative Multi-Center Study to Expand Knowledge of Neurodevelopmental Phenotypes and Pheochromocytoma/Paraganglioma Syndrome Predisposition
Reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing
Missense Variants and a Mild Non-lethal Form of TARP?
Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants
Clinical Implementation of Carrier Screening and Diagnostic Testing for Spinal Muscular Atrophy using PCR/Capillary Electrophoresis assay
Updating patient results for genomic CNVs intersecting dosage sensitive genes on the ACMG secondary findings v3.1 list
Overcoming Polymer-Induced Variation in Fragile X and Huntington Disease Repeat Expansion Assays
Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population
3q28 Microdeletions Involving TP63 Are Associated with Cleft Lip/Palate in a Size- and Position-Dependent Manner
A Plot Twist: When RNA Evidence Challenges Our Expectations of DNA Results
A Comprehensive PCR/Nanopore Based Panel for CFTR Population Carrier Screening that Resolves Multiple Classes of Clinically-Relevant Variants
IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT
Partial Duplications of Haploinsufficient Genes: Always a VUS?
Analysis of challenging products of conception cases with optical genome mapping: a preliminary study
SNP FASST3, an adaptive algorithmic approach for accurate mosaic detection of CNV and LOH spanning technologies
GATEways to improved test utilization: Opening doors and building bridges
Improving DNA sequencing from dried blood spots for multi-tiered newborn screening
A Case Series of 17 Patients with VEXAS Syndrome due to UBA1 Met41 Variants
Initial Experience from a Single Laboratory on Custom Hereditary Cancer Panel Orders
PGT-M for Hereditary Cancer Conditions: A 12-year Testing Experience at a Single Reference Laboratory
Preimplantation Genetic Diagnosis for Facioscapulohumeral muscular dystrophy
Two Distinct Rearrangements in One Family within the Duchenne Muscular Dystrophy Gene
Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF
DEVELOPMENT OF AN EDUCATIONAL FORUM FOR CLINICAL BIOINFORMATICIANS TO SHARE BEST PRACTICES
Population-Based Incidence Estimates of Classical Homocystinuria Using the Genome Aggregation Database (gnomAD)
Sequence and copy number variant detection in autosomal recessive conditions utilizing tiered-testing approach
Anonymous is Synonymous: Utilizing De-identified Genetic and Clinical Information to Evaluate Diagnostic Prioritization Algorithms
Genetic Test Stewardship for Clinical Exome Sequencing: Review of Critical Care Orders at Texas Children's Hospital
Optimized whole genome screening: the impact of variant calling accuracy improvements on curation burden
Importance Of Parental Segregation Studies and its Role in Variant Classification
Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population
Efficient allelic tagging in human induced pluripotent stem cells using CRISPR
Identification of a Novel, Deep-Intronic Alteration in KDM6A: How a Multi-Omics Approach Ended a 10+ Year Diagnostic Odyssey.
Getting it Right on the First Test: Machine Learning Plus Genome-wide Methylation Profiling Resolves Equivocal Cases of Beckwith-Wiedemann Syndrome
Expanding The Genetic and Phenotypic Spectrum of Cohesinopathies in a Single Center
Detecting Short Tandem Repeat Expansions: Three-year Experience with Clinical Whole Genome Sequencing (cWGS) for a Rare and Undiagnosed Population
Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy
Molecular Diagnosis of Prader-Willi and Angelman Syndromes using Methylation-Specific MLPA
Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: insertion in CLCN1 gene causing Myotonia Congenita
Gene Panels for Skeletal Dysplasia and Epilepsy: Maximizing Clinical Utility through Careful Design, Regular Review, and Clinician-Laboratory Collaboration
Gene variant spectrum in patients with familial exudative vitreoretinopathy
Genetic counseling assistants in the laboratory: scope of work and career ladder at ARUP laboratories
Multiple mitochondrial DNA deletions in patients with myopathy
Exon-level copy number variations identified by whole genome sequencing in previously undiagnosed patients with rare hereditary diseases
Four Cases of Mosaic Triploidy Identified by Trio Exome Sequencing
Dual Diagnosis of Maple Syrup Urine Disease 1B and 6q14.1 Deletion in an Individual with Neurodevelopmental and Metabolic Phenotypes
Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis
Leveraging extensive datasets to better classify SMARCA4 variants
Identification of NF1-associated Tumor Mutations in Plasma cfDNA and its Clinical Application
Improved Efficiency of G-band Chromosome Analysis via Deep Neural Network Workflow
Evaluating Technical and Analytical Validity of the Illumina Infinium Global Diversity Array with Cytogenetics (GDACyto) for Clinical Testing
Assessing the Performance of Automated HPO Term Extraction for Deep Phenotyping of Patients Receiving WES/WGS in a Clinical Diagnostic Laboratory
HiFi reads provide accurate detection of variants and DNA methylation in challenging regions of the genome
Genetic Ancestry analysis using 46 AIM-InDel in three population groups of Colombia: Amerindian, African-descent and European-admix populations
A 3.9 Mb Triplication Within 11p14.1p13 Containing ELP4 and PAX6 In a Patient With Congenital Nystagmus and Mild Speech Delay
Novel Molecular Mechanism in Malan Syndrome Uncovered through Detailed Genome Sequencing Reanalysis, Exon-level Array and RNA-seq
A Lab Developed FISH Test for Bladder Cancer and Pancreaticobiliary Cancer
Genetic landscape of donor-derived hematological malignancies and donor-derived clonal abnormalities of uncertain significance after sex mismatched allogeneic stem cell transplantation
Prenatal Cytogenetic Test Review Adds Value to Clinical Care - Illustrated by Example Cases
Trends in Prenatal Genetic Diagnosis for Congenital Diaphragmatic Hernia: A 20-Year Single Center Retrospective Review
Prenatal Genetic Screening and Diagnostic Testing Before and After the Height of the Covid-19 Pandemic in The Bronx NY
Fetal Genome Sequencing for Multiple Congenital Anomalies Identifies a Likely Pathogenic Variant in the CHD2 Gene: A Case Report
Impact of NIPS Outside of Scope Reporting on Fetal and Maternal Cytogenetic Testing
Fetal Asparagine Synthetase Deficiency Diagnosed by Carrier Screening in the Workup of Fetal Growth Restriction
Deciphering the Clinical Relevance of PIEZO1 Variants Detected by Prenatal Exome Sequencing in Nonimmune Hydrops Fetalis
Clinically Significant Parental Diagnosis as an incidental Finding from Prenatal Genetic Testing
Two Cases of Prenatally Diagnosed Cri-du-Chat Syndrome and Associated MRI Findings
Prenatal Presentation of Baraitser-Winter Syndrome: A New Lymphatic Multiple Congenital Anomaly Syndrome
Specialization in Prental Genetic Counseling: Defining the Role of Fetal Therapy Genetic Counselors
Prenatal diagnosis of sideroblastic anemia with immunodeficiency, fevers, and developmental delay in a fetus with severe growth restriction and cardiomegaly.
Murky Waters: Discrepant Preimplantation Genetic Testing - Aneuploidy, Non-Invasive Prenatal Testing, and Prenatal Diagnostic Testing for Mosaic Trisomy 21
Prenatal Diagnosis of 6pter-p24 Deletion Syndrome in a Fetus Associated with Multiple Posterior Fossa Anomalies and an Unexpected Microarray Result
Application of Prenatal Exome Sequencing in fetuses with Multiple Congenital Sonographic Abnormalities: A Report of Three Cases
A Multiplexed Targeted PCR and Single Nucleotide Extension assay for the 14 Most Common Thanatophoric Dysplasia I and II Mutations
Prenatal diagnosis of anopthalmia with de novo variant in SOX2
Congenital anemias in nonimmune hydrops fetalis diagnosed by exome sequencing
Cell-based Noninvasive Prenatal Screening for a Comprehensive Fetal Genome Profiling for Pathogenic Submicroscopic CNVs in Circulating Trophoblasts from Maternal Blood
Utility of Negative Fetal Exome Sequencing in Diagnosing Chondrodysplasia Punctata Associated with Maternal Systemic Lupus Erythematosus: A Case Report
Prenatal Detection of a Novel Pathogenic Missense Variant in COL11A1 Leads to a Familial Diagnosis of Stickler Syndrome Type II
Rates of Unbalanced Chromosome Rearrangements Associated with Pericentric and Paracentric Inversions: Analysis of Molecular Chromosome Results in Blastocyst-Stage Embryos Samples
Fetal Placental Discordance as an Explanation for False Negative SNP-based NIPT
Targeted application of genome-wide cell-free DNA (GWcfDNA) non-invasive prenatal screening (NIPS)
NIPS dilemma in the context of consanguinity; considerations for counseling
Prenatal Diagnosis of a RNU4ATAC-Related Disorder Detected by Whole Genome Sequencing Not Seen by Exome Sequencing on the Initial Proband.
First Case of a FBXW11-Related Disorder Diagnosed via Prenatal Whole Exome Sequencing
Diagnosis of Thrombocytopenia Absent Radius (TAR) Syndrome After Abnormal First Trimester Ultrasound: A Case Report
A novel, iteratively designed and highly multiplexed droplet digital PCR assay for non-invasive prenatal screening
Early Performance Analysis for 22q11.2 Deletion Syndrome Detection Using a Whole-Genome Sequencing-Based Noninvasive Prenatal Screen
Case Report: Prenatal Diagnostic Challenges in Familial Mediterranean Fever
Fetal SPTA1-related hemolytic anemia presenting in the mid-trimester with ascites
Effectiveness of expanded prenatal carrier screening and prenatal ultrasound in identifying congenital disorders among consanguineous couples
Novel Prenatal Phenotype of Biallelic mutations in SLC5A6; expanding the phenotypic spectrum
#NUM!
Social determinants of health and genetic testing in intrauterine fetal demise
Development of a Hemolysis Index for Vanadis cfDNA NIPT Sample Acceptance
Maternal implications of Triple X syndrome detected after abnormal NIPT and inconclusive expanded carrier screening. A case-report.
Prenatal diagnosis of 7q, Xq/Yq deletion mosaicism in an alobar holoprosencephaly fetus: A case report and review of the literature
Single center experience using single-gene-NIPT to evaluate fetal risk of autosomal recessive conditions
Identification of a pathogenic variant in NSDHL in a patient with congenital high airway obstruction (CHAOS) syndrome
Prenatal Diagnosis of Alkuraya-Kučinskas Syndrome by Exome Sequencing
Molecular findings of a placental mass in association with neonatal mosaic trisomy 21: teratoma versus monozygotic acardiac amorphous twin
Whole-exome sequencing on product of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami Clinical Site
Transcriptome sequencing increases yield of Mendelian disease diagnosis.
Can Computational Tools Generate Greater Than ACMG Supporting Evidence? A Circularity-Free Analysis Using ATM, CHEK2, and Breast Cancer Case-Control Data
Creation of a ClinGen Standard Operating Procedure to Guide Gene- and Disease- Specific Refinements of the ACMG/AMP Criteria
Comparison of droplet digital PCR and multiplex ligation-dependent probe amplification in identifying CFHR3-CFHR1 deleted region
A Generalized Model to Describe Sequence Feature Annotation
Genomewide longitudinal DNA methylation profiling of pregnant women and its association with preterm birth outcomes
Early Results from a Multiomics Cohort: Unique RIPK1 Fusions Identified in Two Individuals with Irritable Bowel Disease
Estimating predispositional breast cancer risk in genic regions using population sequencing data
The Brotman Baty Institute Clinical Variant Database (BBI-CVD)
Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support Pediatric Variant Classification Workflows
Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis
Resolving clinically relevant short read deficient homologous sequences using a novel CRISPR-CAS mediated targeted long read sequencing method
NSD2 duplication results in distinct phenotype and DNA methylation signature
Hybridization-Based Target Enrichment with Illumina Complete Long-Read Assay
Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders
Accelerating novel gene discovery utilizing a constraint-based method on exome sequencing data of 23,670 patients
A database of high allele frequency variants from exome sequencing data of 20,455 patients enriched with Asian population
Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT
A Community Based Participatory Research Pilot Project to increase Awareness of Cancer-Related Genetic Counseling and Testing through Communication Asset Mapping
Next-Generation Health Technology Assessments: Rapid Evidence Assessments Provide Timely Data-driven Guidance on Genetic and Genomic Tests
Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines
The accuracy of variant-specific literature search results using LitVar2.
Predicting variant classification by modeling the effects of functional and case study data in RUNX1 variants of uncertain significance
Automated Identification and Indexing of Genes and Variants using Bidirectional Encoder Representation from Transformers
VariantMatcher a tool to enable connections amongst individuals with interest in a specific variant
Novel variant in RAG2, identified through data mining, is linked to rare forms of primary immunodeficiencies
Whole-transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis patients reveals infections with α-, β- and γ-HPVs.
Long-read Sequencing Reveals a Novel Pathogenic Variant in IKBKG with Associated Skewed X-inactivation in Affected Females
Batch ClinVar Submission Support in ClinGen's Variant Curation Interface (VCI)
Designing an Untargeted Metabolomics Assay to Detect Biomarkers for Inborn Errors of Metabolism in the Clinical Laboratory
Uptake of Cascade Testing in Families With Ovarian Cancer: Genetic Risk Analysis in Ovarian Cancer (GRACE) Study
Perspectives of Genetics Healthcare Professionals on Direct-to-Consumer Genetic Testing Practice Recommendations
Color Vision Deficiency: A Case Report and Call to Action for Screening and Education
'I would have had no idea': families' experiences with a new U.S. health system-mediated direct contact program
Implementing Community Engagement to Refine Education and Consent Materials for Newborn Genomic Sequencing Research
Disseminating Genetics Policy Information on Social Media
ACMG ACT Sheets and Algorithms: Update Process, Development, and Utilization
'Estamos Perdidos [We are Lost]': Exploring Genetic Testing Decision Making Pathways for Latinx Populations
Are We Doing Enough: The Successes and Challenges of Developing a DEI Committee
Play Activity and Schooling Pattern in Children with Down Syndrome in Resource Constrained Settings
Equity Challenge: Examining how to Improve Genetic Telehealth for Patients in Detroit Metro Area
State of Play: The Current Landscape of Newborn Screening for Pompe Disease in the United States
A Pilot Mentorship Program for the Career Advancement of Underrepresented Individuals in Laboratory Genomics at Mayo Clinic
Connecting People to Genetic Services - Work of the Regional Genetics Networks
Comparing Genetics Policies in State Medicaid Programs in 2022 versus 2021
Interpreting for Genetics: Reaching Underserved Populations
Six Years of Community and Student Engagement with Family Health History in a Baltimore Public Market
UNC EDGE Genomics: A New Undergraduate Training Program to Increase Inclusion in the Genomics Workforce
Adolescents' State Anxiety and Decisional Regret One Week After Learning Carrier Results for Autosomal Recessive Disorders
Assessing Human Genetics' Training in Ecuadorian Medical Schools
Gauging Medical Student Comfort in the Delivery of Difficult News in the Context of Genetics
The Impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency on the Family (Audio)
MEXICAN CLINICAL AND MOLECULAR REGISTRY OF MUCOPOLYSACCHARIDOSIS TYPE VII (Audio)
Recurrent Somatic Copy Number Alterations and Their Association with Gene Expression Levels on Cancer Genes in Ovarian Serous Cystadenocarcinoma (Audio)
Creation of the Ontario Hereditary Cancer Research Network (OHCRN) (Audio)
Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives (Video)
Spectrum of Genetic Alterations for Hereditary Paraganglioma-Pheochromocytoma Syndrome Testing: Eight-Year Experience from a Single Diagnostic Laboratory (Audio)
ATM and PALB2 Variant Curation Guidelines Progress Update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel (Audio)
Comprehensive Functional Analysis of CHEK2 Variants: A Novel Approach to Classify Hereditary Cancer Syndrome Variants of Uncertain Significance (Audio)
The ClinGen ENIGMA BRCA1/2 Expert Panel: a dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2 (Audio)
Diagnostic dilemma in a pediatric high grade brain tumor with the ETV6-NTRK3 gene fusion (Audio)
BRCA1 Germline Variant Driving a Case of Colon Cancer (Audio)
Identification of PALB2 variants and associated cancers in a large, unselected healthcare population (Audio)
What's Trending: Comparing Variant of Uncertain Significance (VUS) Rates in Cancer Predisposition Genes Over Time in Black and White Individuals (Audio)
Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods (Audio)
Kidney Features in Patients with a Molecular Diagnosis of Birt-Hogg-Dubé Syndrome: A Case Series (Audio)
Biallelic Variations in ATP13A2 Manifesting with a Complicated Motor Neuron Disease Phenotype (Audio)
Molecular Basis of Adducted Thumbs Syndrome in the Old Order Amish Community (Audio)
Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program (Audio)
Whole-Genome Sequencing in the NICU: Improving Healthcare through Precision Medicine (Audio)
Cherubism in Two Generations of an African American Family (Audio)
Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations (Audio)
A Truncating Variant in RFX7 Causing Developmental Delay and Intellectual Disability. (Audio)
Nutritional Markers Of Histamine Intolerance in Ehlers-Danlos Syndromes (Audio)
Comprehensive Newborn Hearing Screening in Generation Genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome) (Audio)
The ClinGen Pharmacogenomics Working Group: Developing a Framework for Gene-Drug Response Clinical Validity (Audio)
Never Two Late: A Dual Diagnosis of Noonan Syndrome and Hypophosphatasia in an Adolescent Patient with Unusual Presentation. (Audio)
Phenotypic and genotypic spectrum of Arthrogryposis Multiplex Congenita using Next Generation Sequencing: Experience from a tertiary care centre in India (Audio)
A novel TGFBR1 splice-site variant identified in a family with Loeys-Dietz syndrome and variable aortic phenotypes (Audio)
Case Report: PHACE-Like Syndrome With TMEM260 Compound Heterozygous Variants (Audio)
SINO Syndrome Associated with Heterozygous KIDINS220 Variants: A More Severe Presentation and Maternal Mosaicism (Audio)
Characteristics and Genetic Testing of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy (HIE) (Audio)
XLH Molecular Diagnoses and the PHEX Gene Variant Landscape: Sponsored Hypophosphatemia Gene Panel Testing Findings from 2019 versus 2022 (Audio)
Survival in Eteplirsen-treated vs Duchenne Muscular Dystrophy Natural History Patients: An Indirect Treatment Comparison Using Real-world Data (Audio)
Case Report: NFIA-related Disorder Caused by Inherited Missense Mutations Leading to Variable Presentations Among Family Members (Audio)
Two New Cases of 9q21.13 Microdeletion Syndrome and Review of the Literature (Audio)
Heterozygous variant of TGFB3 in a patient with an atypical phenotype of Loeys-Dietz Syndrome (Audio)
Beyond SMN1: review of genotype-phenotype correlation in individuals with >=4 SMN2 copy numbers (Video)
Incorporating Regulatory Information Improves Interpretation of Noncoding Variants (Audio)
A rare case of Ferguson-Bonni Neurodevelopmental syndrome with cleft palate (Audio)
Clinical burden and health behaviors associated with genomic screening for homozygous HFE C282Y variants in an unselected health care system (Audio)
Expanding the Phenotypic Description and Allelic Heterogeneity of the KAT6B-Related Disorder (Audio)
WGS/WES as Unique Diagnostic Tool for the Genetic Screening of Patients with Craniosynostosis (Audio)
SATB2-Associated Syndrome Severity Score: Genotype/phenotype Correlations and the SATB2 Portal (Audio)
Project GIVE: Expanding Genetic Testing to Underserved Areas in the Rio Grande Valley Using a Telehealth Platform (Audio)
Inter-Center Variation in the Availability and Provision of Genetic Medicine Services in Level IV NICUs (Audio)
Use of Genetic Services Among Patients with Prostate Cancer at a Safety-Net Hospital: A Mixed Methods Study (Audio)
Increasing Equitable Access and Uptake for Hereditary Cancer Testing in Patients with Breast Cancer (Audio)
Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of Healthcare Claims Data to Inform Protocol Design (Audio)
A Genome Sequencing Approach to Pharmacogenomic Profiling Across Diverse Population in a Large Health System (Audio)
A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III (Audio)
Highly Scalable Pharmacogenomic Panel Testing with Hybrid Capture and Long-Read Sequencing (Audio)
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort (Audio)
The Impact of Machine Learning Algorithms in Reducing VUS for Individuals from Underrepresented Populations Compared to Well Studied Populations (Audio)
Resolution of Variants of Uncertain Significance by RNA Sequencing (Audio)
High-resolution Analysis of Pathogenic Trinucleotide and Hexanucleotide Repeats, Copy Number Changes, SNVs and INDELs Using Flexible, Easy-to-use Fragment Sizing Instrumentation (Audio)
The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory (Video)
Validation and Real-Life Experience of a Comprehensive, Targeted Next-Generation Sequencing Panel for Hereditary Cancer Predisposition (Audio)
IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT (Audio)
A Case Series of 17 Patients with VEXAS Syndrome due to UBA1 Met41 Variants (Audio)
DEVELOPMENT OF AN EDUCATIONAL FORUM FOR CLINICAL BIOINFORMATICIANS TO SHARE BEST PRACTICES (Audio)
Population-Based Incidence Estimates of Classical Homocystinuria Using the Genome Aggregation Database (gnomAD) (Audio)
Efficient allelic tagging in human induced pluripotent stem cells using CRISPR (Audio)
Detecting Short Tandem Repeat Expansions: Three-year Experience with Clinical Whole Genome Sequencing (cWGS) for a Rare and Undiagnosed Population (Audio)
Improved Efficiency of G-band Chromosome Analysis via Deep Neural Network Workflow (Audio)
Trends in Prenatal Genetic Diagnosis for Congenital Diaphragmatic Hernia: A 20-Year Single Center Retrospective Review (Audio)
Deciphering the Clinical Relevance of PIEZO1 Variants Detected by Prenatal Exome Sequencing in Nonimmune Hydrops Fetalis (Audio)
Clinically Significant Parental Diagnosis as an incidental Finding from Prenatal Genetic Testing (Audio)
Cell-based Noninvasive Prenatal Screening for a Comprehensive Fetal Genome Profiling for Pathogenic Submicroscopic CNVs in Circulating Trophoblasts from Maternal Blood (Audio)
Fetal SPTA1-related hemolytic anemia presenting in the mid-trimester with ascites (Audio)
Effectiveness of expanded prenatal carrier screening and prenatal ultrasound in identifying congenital disorders among consanguineous couples (Audio)
Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support Pediatric Variant Classification Workflows (Audio)
Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT (Audio)
Next-Generation Health Technology Assessments: Rapid Evidence Assessments Provide Timely Data-driven Guidance on Genetic and Genomic Tests (Audio)
Automated Identification and Indexing of Genes and Variants using Bidirectional Encoder Representation from Transformers (Audio)
Novel variant in RAG2, identified through data mining, is linked to rare forms of primary immunodeficiencies (Audio)
Six Years of Community and Student Engagement with Family Health History in a Baltimore Public Market (Audio)
2023 ACMG Abstract Search
2023 Abstract Supplement Link
ACMG Annual Meeting 2023 Abstract Supplement

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