Conference Program

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- Laboratory Genetics and Genomics
Nanopore sequencing for robust detection of DNA methylation signatures
- Laboratory Genetics and Genomics
"Double-hit"RUNX1 Involving a Novel t(6;21)(q25;q22) Chromosome Translocation with RUNX1::ARID1B Gene Rearrangement and RUNX1 p.Trp279* truncation in Acute Myeloid Leukemia
- Prenatal Genetics
"Let me figure out how to help you:" Perspectives on preparing to parent a child with a genetic condition
Overall Evaluation (Must be completed to access certificate)
- Clinical Genetics and Therapeutics
Aqueductal Stenosis and Hydrocephalus in TUBA1A-Associated Tubulinopathy: Expanding the Genotypic and Phenotypic Spectrum
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Diversity of Brazilian Ancestry in 3 Cohorts: Challenges and Insights for Precision Medicine
- Biochemical/Metabolic and Therapeutics
Improving ataxia symptoms in patients with monoallelic DHDDS-CDG using nicotinamide precursor supplements
- Clinical Genetics and Therapeutics
Vosoritide as a targeted therapy for FGFR3-related thanatophoric dysplasia
- Clinical Genetics and Therapeutics
Case Report: Snijders Blok-Campeau Syndrome (SNIBCPS) and Chronic Pancreatitis; Expanding the Phenotype
- Clinical Genetics and Therapeutics
CHEK2 and Pediatric Cancer Predisposition
- Clinical Genetics and Therapeutics
FLNA Deficiency in a 27-Year-Old Woman: Spontaneous Pneumothoraces and Unique Lung Histopathology
- Biochemical/Metabolic and Therapeutics
GSD1 Subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis.
- Biochemical/Metabolic and Therapeutics
In Vitro Evaluation of Drug–Drug Interaction Potential of Doxecitine and Doxribtimine in Thymidine Kinase 2 Deficiency (TK2d)
- Laboratory Genetics and Genomics
KMT2A Amplification in Two Adult Patients with B-Cell Acute Lymphoblastic Leukemia
- Cancer Genetics and Therapeutics
Loss of DDI2 Triggers Autophagy through CCN1 in Cancer Cells
- Laboratory Genetics and Genomics
Machine Learning-Guided GWAS in the Taiwan Biobank Reveals Novel Height-Associated Genes with Possible Epistatic Interactions
- Laboratory Genetics and Genomics
MYH11 triplosensitivity in TAAD and 16p13.11 microduplication syndrome: a supportive case series
- Clinical Genetics and Therapeutics
Novel variations in GLI3 zinc–finger transcription factor identified in Indian patients with polydactyly and syndactyly
- Clinical Genetics and Therapeutics
PTEN and WDR19 Variants in a Neonate with Brain and Cutaneous Anomalies
- Clinical Genetics and Therapeutics
TACSTD2-Related Gelatinous Drop-like Corneal Dystrophy: An Asymmetrical Exception
- Clinical Genetics and Therapeutics
VPS50-Related Neurodevelopmental Disorder: Insights from the Fourth Reported Case
- Prenatal Genetics
Has the era of precise intrauterine treatment for congenital adrenal hyperplasia arrived?
- Biochemical/Metabolic and Therapeutics
Influence of MTHFR Polymorphisms and Folate Pathway Metabolites on Comorbidities in Down Syndrome
- Clinical Genetics and Therapeutics
10p12.1p11.21 microdeletion including WAC and ZEB1: A case report and literature review
- Clinical Genetics and Therapeutics
A 6-Year-Old Male Presenting with X-Linked Intellectual Development Disorder Due to a Unique Pathogenic Truncating Variant in IL1RAPL1
- Clinical Genetics and Therapeutics
A case of bilateral congenital hypoplastic testes leading to an unexpected diagnosis of X-linked trichothiodystrophy
- Clinical Genetics and Therapeutics
A Case of Developmental and Epileptic Encephalopathies Without Epilepsy
- Clinical Genetics and Therapeutics
A case of Neurodevelopmental-Craniofacial Syndrome with Variable Renal and Cardiac Abnormalities due to a de novo heterozygous ZMYM2 pathogenic variant.
- Biochemical/Metabolic and Therapeutics
A Case of Neuromyelitis Optica Spectrum Disorder in ARCN1-related Congenital Disorder of Glycosylation: A Rare Autoimmune Phenotype
- Clinical Genetics and Therapeutics
A Case of TBR-1 Gene Deletion Associated with Keratoconus: Cause or Coincidence?
- Clinical Genetics and Therapeutics
A Case Report of Meckel Gruber Syndrome: Identification of an Unreported Variant Correlating with Diagnosis
- Clinical Genetics and Therapeutics
A Case Report Using Ancestry-adjusted Genome-wide Polygenic Risk Scores with 7,000 Serum Protein Testing to Improve Intervention and Outcome
- Clinical Genetics and Therapeutics
A Case Report: Expanding the Phenotypic Spectrum of EIF5A-Related Neurodevelopmental Disorder
- Biochemical/Metabolic and Therapeutics
A Case Series and Functional Study of Two Commonly Reported Pathogenic Variants in OTC Supports a Hypomorphic Classification
- Laboratory Genetics and Genomics
A Clinical Laboratory's Approach to Curating Unexpected Variants in Pharmacogenes
- Clinical Genetics and Therapeutics
A Clinical Practice Guideline for Genetic Testing in Perinatal Demise: Enhancing Diagnosis Through Multidisciplinary Collaboration
- Cancer Genetics and Therapeutics
A Comparison of Gynecologic Cancer Risk Management in Lynch Syndrome Patients Between a Safety-Net Hospital and University Medical Center
- Laboratory Genetics and Genomics
A Complex Structural Rearrangement Resulting in Recurrent SCN1A Deletion Identified by Optical Genome Mapping
- Clinical Genetics and Therapeutics
A Comprehensive Analysis of Variations in Sexual Characteristics across OMIM
- Clinical Genetics and Therapeutics
A Comprehensive Workflow for Diagnosis and Management of Rare Bone Diseases by Integrating Deep Phenotyping and Genetic Analysis
- Clinical Genetics and Therapeutics
A Decade of Rapid Exome Sequencing at a Tertiary Care Center
- Clinical Genetics and Therapeutics
A family-based approach to cascade genetic testing in a pediatric cancer clinic: challenges in test uptake and utility
- Prenatal Genetics
A fetal diagnosis of LRP2-related Donnai-Barrow syndrome through prenatal genome sequencing
- Prenatal Genetics
A Fetus with Diamond-Blackfan Anemia and HLHS: Expanding the Cardiac Phenotype
- Biochemical/Metabolic and Therapeutics
A First In Human, Single Arm, Open Label Phase 1/2 Study Evaluating ECUR-506 in Neonatal OTC Deficiency: Initial Observations
- Clinical Genetics and Therapeutics
A Framework To Identify Individuals at Low Risk of Disease In the Population
- Biochemical/Metabolic and Therapeutics
A Ketogenic Diet Successfully Treats Refractory Epileptic Spasms in a Child with AICA-Ribosiduria
- Prenatal Genetics
A Laboratory Assessment: Diagnostic Yield of Next Generation Sequencing and Prenatal Clinical Indications
- Laboratory Genetics and Genomics
A Master in Mimicry: Expanding the Renal Phenotype of COL4A1-Related Disorders
- Prenatal Genetics
A maternal and fetal diagnosis of or susceptibility to autosomal dominant COL1A2-related disorders ascertained by prenatal cell-free DNA screening
- Clinical Genetics and Therapeutics
A Missense and Nonsense Variant Combination in COASY Resulting in Severe Prenatal Onset PCH12: Expanding the Clinical and Genetic Spectrum
- Laboratory Genetics and Genomics
A Multi-Site Study of Constitutional Ring Chromosomes from 14 Cytogenetics Laboratories in the United States
- Clinical Genetics and Therapeutics
A Multicenter Descriptive Study of 176 Neonatal-Onset Urea Cycle Disorder Patients Hospitalized in Level IV Neonatal Intensive Care Units
- Laboratory Genetics and Genomics
A multiplexing droplet digital PCR approach to obtain accurate CYP2D6 copy number in the presence of rare variants
- Clinical Genetics and Therapeutics
A New Case of Fucosidosis with a Novel Homozygous Pathogenic Variant and a 17.2 Mb Region of Homozygosity
- Cancer Genetics and Therapeutics
A Novel EP300::PATZ1 Fusion Identified in A Patient With High-Grade Neuroepithelial Tumor
- Clinical Genetics and Therapeutics
A Novel MRTFB Missense Variant, c.479T>C p.(Leu160Pro), in a School-Aged Girl With Neurodevelopmental Disorder
- Cancer Genetics and Therapeutics
A novel RUNX1::EWSR1 gene fusion in a young male acute myeloid leukemia (AML) patient: A case report
- Clinical Genetics and Therapeutics
A Novel SCN5A Variant of Unknown Significance in Brugada Syndrome: A Case for Reclassification
- Clinical Genetics and Therapeutics
A Novel Clinical Process to Expand Genetic Testing Access to Patients with Neurodevelopmental Disabilities
- Clinical Genetics and Therapeutics
A novel method for predicting Lp(a) levels from routine outpatient genomic testing identifies those at risk of cardiovascular disease
- Laboratory Genetics and Genomics
A Novel Truncating Variant in PRDM16 Causes Severe Familial Cardiomyopathy with Variable Clinical Presentations
- Clinical Genetics and Therapeutics
A novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly Skeletal (ACCES) syndrome in a family with variable expressivity
- Biochemical/Metabolic and Therapeutics
A Novel Variant and Treatment Modality in TANGO2 Deficiency
- Health Services and Implementation
A Pilot Study to Evaluate the Influence of a Clinician Outreach Effort for VUS Resolution in Limb-Girdle Muscular Dystrophy
- Clinical Genetics and Therapeutics
A Prolonged-Release Formula Has a Positive Impact on Morning Phenylalanine and Tyrosine Fluctuations in Patients with Classical Phenylketonuria (PKU)
- Clinical Genetics and Therapeutics
A Rare and Treatable Cause for Unexplained White Matter Lesions: Partial Biotinidase Deficiency
- Prenatal Genetics
A Rare Case of Prenatal G6PD Presenting with Hydrops and in Utero Demise
- Clinical Genetics and Therapeutics
A Rare Presentation of 1q32q42 Associated with a Complex Adverse Phenotype
- Clinical Genetics and Therapeutics
A Review of Phenotypic and Genetic Data in Craniofacial Microsomia Cases from a Multidisciplinary Craniofacial Clinic
- Health Services and Implementation
A Scoring System to Balance Genetic Counselor Work across Different Clinics
- Laboratory Genetics and Genomics
A Single-Center Reevaluation and Reanalysis of Copy Number Variants of Uncertain Significance Detected by Chromosome Microarray From Consecutive Pediatric Patients
- Laboratory Genetics and Genomics
A Tale of Two Sides: a Rare Pediatric Neuro-Oncology Case
- Laboratory Genetics and Genomics
A Virtual Registry of 9K Leigh Syndrome and Primary Mitochondrial Disease Cases Constructed through Semi-Automated Literature Mining and Expert Curation
- Biochemical/Metabolic and Therapeutics
A woman with blistering skin and abnormal CBC findings with a novel mutation resulting in aberrant splice of PPOX transcript
- Clinical Genetics and Therapeutics
Abdominal Aortic Aneurysm in Males as the Predominant Presentation of Vascular EDS in a Family With a Novel COL3A1 Variant
- Clinical Genetics and Therapeutics
Abdominal Compression Syndromes in the Ehlers-Danlos Syndrome
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Ableism and Modern Eugenics in Heritable Human Genome Editing
Abstract Reviewers
- Laboratory Genetics and Genomics
Accurate genotyping of high homology HBA and SMN genes from whole exome sequencing
- Education and Research Strategies
Achieving Consensus on a Prenatal Patient Education Resource about Spina Bifida
- Clinical Genetics and Therapeutics
ACTC1 variants result in a phenotype resembling Noonan syndrome
- Biochemical/Metabolic and Therapeutics
Acute Arrhythmias in a Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Mouse Model
- Biochemical/Metabolic and Therapeutics
Acute Mitochondrial Dysfunction in Proprionic Acidemia
- Prenatal Genetics
Additional haplotype in NIPD for Spinal muscular atrophy: triploid of a twin gestation
- Clinical Genetics and Therapeutics
Addressing Undiagnosed Diseases in a Developing Nation: The Indian Undiagnosed Diseases Program
- Health Services and Implementation
Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Adolescents' experiences and perspectives of genetic testing and its personal utility
- Biochemical/Metabolic and Therapeutics
Adult presentation of MOGS-CDG: Expanding the Clinical Spectrum
- Biochemical/Metabolic and Therapeutics
Advances in Multi-omics Diagnostics Studies of Mitochondrial Diseases in Japan
- Clinical Genetics and Therapeutics
Advancing Diagnostic Precision in Rare Genetic Disorders: Insights from the University of Wisconsin Undiagnosed Disease Program
- Health Services and Implementation
Advancing Genomic Research: Enhancing dbGaP Interoperability with FHIR APIs
- Prenatal Genetics
Advancing precision care in pregnancy through a treatable fetal findings list
- Laboratory Genetics and Genomics
Advancing Scientific Annotation: Introducing LEAP for Efficient Literature Review
- Laboratory Genetics and Genomics
AI-supported Identification of Disease-Gene Relationship Publications
- Clinical Genetics and Therapeutics
Alpha-Mannosidosis: A Case Report on Diagnostic Challenges, Enzyme Replacement Therapy, and ongoing Hematopoietic Cell Transplantation
- Clinical Genetics and Therapeutics
Alport syndrome with a Novel COL4A3 Gene Alteration presenting with recurrent vertebral artery dissections: Case report and Literature Review
- Laboratory Genetics and Genomics
An Assessment of a Novel Capillary Blood Collection System for Research Sample Collection in Adults
- Cancer Genetics and Therapeutics
An atypical and complex BCR-ABL translocation in a chronic myeloid leukemia patient and its response to TKI therapy
- Clinical Genetics and Therapeutics
An Atypical Case of Pseudohypoparathyroidism 1b due to Uniparental Hetero- and Isodisomy Detected by Genome Sequencing
- Clinical Genetics and Therapeutics
An Atypical Presentation of Werner Syndrome in a patient with a novel likely pathogenic variant in WRN: A Case Report
- Health Services and Implementation
An efficient alternative model of genetic counseling to deliver services at the Saguenay-Lac-Saint-Jean region in Quebec.
- Clinical Genetics and Therapeutics
An elusive diagnosis of congenital methemoglobinemia type II
- Laboratory Genetics and Genomics
An Ensemble Feature Selection and Nested Cross-Validation Approach Using miRNA Profiles for the Automated Detection of Usher Syndrome
- Ethical Legal Social Issues (ELSI) Public Health and Policy
An Imperfect System: Access to Genetic Testing and Hereditary Cancer Syndrome Care - A National Survey
- Clinical Genetics and Therapeutics
An Unusual Cause of Hexokinase 1 Deficiency
- Clinical Genetics and Therapeutics
Analysis of chromosomal abnormalities associated with early pregnancy loss
- Clinical Genetics and Therapeutics
Analysis of the Clinical and Genetic Characteristics of Twelve Skeletal Disorders in Mexican Patients
- Laboratory Genetics and Genomics
ANALYTICAL PERFORMANCE EVALUATION OF WHOLE GENOME SEQUENCING AS FIRST-LINE GENETIC TESTING FOR INTELLECTUAL DEVELOPMENT DISORDERS AND CONGENITAL MALFORMATIONS
- Clinical Genetics and Therapeutics
Analyzing the Genetic Causes of Pediatric Inherited Cardiomyopathy in Middle Eastern Patients
- Biochemical/Metabolic and Therapeutics
Anion Gap Metabolic Acidosis of Unknown Etiology
- Cancer Genetics and Therapeutics
Anticarcinogenic Plants for Oncology: Nutraceuticals Replacing Traditional Chemotherapy? An in-vitro & in-vivo Investigation with Zebrafish models of Human Breast Cancer
- Clinical Genetics and Therapeutics
Aortic root dilation is an underrecognized cardiac manifestation of Fabry disease
- Clinical Genetics and Therapeutics
Application of next-generation sequencing in the diagnosis of inherited metabolic disorders in Iran: An 11-year overview
- Prenatal Genetics
Application value of noninvasive prenatal diagnosis of recessive monogenic genetic diseases based on relative haplotype dosage changes
- Clinical Genetics and Therapeutics
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
- Clinical Genetics and Therapeutics
ase Series of Nizon-Isidor Syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through Diploid-Triploid Mosaicism
- Cancer Genetics and Therapeutics
Assessing Breast Cancer Risk: A Comparative Analysis of Ancestry-Adjusted PRS Models in Women of Ashkenazi Jewish Heritage
- Clinical Genetics and Therapeutics
Assessing Discrepancies Between Genetic Variants and Clinical Diagnosis in Marfan Syndrome through All of Us
- Health Services and Implementation
Assessing Patient Experience with Informed Consent for Genetic Testing in the Inpatient Setting
- Cancer Genetics and Therapeutics
Assessing the Clinical Relevance of BRCA1 RING Domain Variants of Uncertain Significance (VUS) with Comprehensive Computational and Functional Analyses
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Assessing the Impact of Provider-Patient Ethno-Racial and Linguistic Concordance on Knowledge and Attitudes of Underrepresented Populations towards Genetic Counseling
- Laboratory Genetics and Genomics
Assessing the Utility of Long-Read Genome Sequencing in Rare Pediatric Disorders
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Assessing the Value of Rare Disease Research: A Qualitative Study of Investigators’ Perspectives
- Health Services and Implementation
Assessment of Barriers to Breast MRI Screening in Individuals Identified as High-Risk for Breast Cancer
- Clinical Genetics and Therapeutics
Assessment of factors driving disparities in clinical uncertainty for patients seen in adult medical genetics clinics
- Biochemical/Metabolic and Therapeutics
Assessment of Gestational Age and Birthweight in Patients with Metabolic Conditions Included in CLIR
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Assessment of Inborn Errors of Metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework
- Clinical Genetics and Therapeutics
Assessment of Interpupillary Distance in a Racially/Ethnically Diverse Pediatric Sample from Electronic Health Record Data
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Atypical and Extra Sex Chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics.
- Clinical Genetics and Therapeutics
Atypical Presentation of Alexander Disease in a 4-Month-Old Infant: Emphasizing the Importance of Integrated Genetic and Biochemical Testing
- Clinical Genetics and Therapeutics
Atypical Reactions to Infantile Spasms Medications in a Child with UNC80 Deficiency
- Prenatal Genetics
Atypical Sex Chromosome Findings on Prenatal Cell-free DNA Screenings
- Laboratory Genetics and Genomics
Automated reanalysis of clinical genomic data in undiagnosed patients
- Clinical Genetics and Therapeutics
Automating Pharmacogenomic Annotation: Leveraging Schema Constrained GPT-4 for Variant-Drug Data Extraction
- Health Services and Implementation
BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education.
- Clinical Genetics and Therapeutics
Beyond Boundaries: The Continuous Spectrum in FGFR3-Related Conditions
- Clinical Genetics and Therapeutics
Beyond Height and Growth: Impact of Achondroplasia Therapy on a Cohort of Brazilian Patients
- Clinical Genetics and Therapeutics
Beyond NGS: Detailed Analysis of Sanger, MLPA and RNA Confirms Tuberous Sclerosis Complex in Clinically Diagnosed Patients
- Clinical Genetics and Therapeutics
- Health Services and Implementation
Bi-allelic RAB5IF Variants Associated with Craniofacial and Skeletal Anomalies: Further Insights into CFSMR2 Syndrome
- Clinical Genetics and Therapeutics
Biallelic Pathogenic Copy Number Variants in VPS13B Resulting in Cohen Syndrome
- Clinical Genetics and Therapeutics
Bilateral pheochromocytomas in Von Hippel-Lindau disease
- Clinical Genetics and Therapeutics
Biochemical Loss-of-Function Data for SIM1 Increases Probability of Clinical Weight Loss Response to the MC4R Agonist Setmelanotide
- Cancer Genetics and Therapeutics
Bioinformatics Analysis Reveals Genes Involved in PI3K-Akt Pathway as Novel Potential Biomarkers and Drug Targets for Acute Myeloid Leukemia (AML)
- Clinical Genetics and Therapeutics
Bioinformatics Pipeline for Comprehensive Microbial Profiling from Tissue Biopsies Using RNA-Seq
- Cancer Genetics and Therapeutics
Bioinformatics Pipeline for Somatic Variant and Mutation Signature Analysis from Tissue Biopsies Using RNA-Seq
- Cancer Genetics and Therapeutics
Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer
- Clinical Genetics and Therapeutics
Biomarkers and Therapeutic Drugs for Pregnancy Complications in patients with PCOS
- Clinical Genetics and Therapeutics
Broadening molecular and phenotype spectrum including thrombocytopenia in KAT6A-associated condition
- Laboratory Genetics and Genomics
BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes
- Biochemical/Metabolic and Therapeutics
California's Experience with Guanidinoacetate Methyltransferase Enzyme Newborn Screening on the First 100,000 Samples
- Biochemical/Metabolic and Therapeutics
Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency
- Biochemical/Metabolic and Therapeutics
Carnitine palmitoyltransferase-2 deficiency in a 4-year-old boy presenting with autism spectrum disorder: continuing to uncover links between autism and carnitine
- Clinical Genetics and Therapeutics
Cartilage-Hair Hypoplasia: Expanding the Association of Severe Prenatal Skeletal Findings
- Clinical Genetics and Therapeutics
Case Report of Pediatric Onset CSF1R-Related Disorder
- Clinical Genetics and Therapeutics
Case report: Lymphedema, large spinal cyst, and myelopathy in a pediatric patient: Autosomal Dominant Lymphedema-Distichiasis Syndrome (LDS)
- Prenatal Genetics
Case report: Incidental Diagnosis of Mulchandani-Bhoj-Conlin Syndrome by Prenatal Microarray
- Clinical Genetics and Therapeutics
Case Study of Yp11.31 Deletion in XXY Phenotypic Female
- Clinical Genetics and Therapeutics
Central Precocious puberty in KBG syndrome with a pathogenic variant in ANKRD11
- Clinical Genetics and Therapeutics
Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: Expanding the Phenotype
- Laboratory Genetics and Genomics
Challenges in Microarray Analysis and Interpretation of Incidental Findings on the X Chromosome
- Biochemical/Metabolic and Therapeutics
Challenges in Newborn Screening for Mucopolysaccharidosis Type I: A Case Study
- Prenatal Genetics
Challenges of genetic counseling in prenatal setting: follow up of a child born after conspicuous result for Pallister Killian Syndrome
- Clinical Genetics and Therapeutics
CHARACTERISTIC NEURAL TUBE DEFECTS AND OVERLAP IN OEIS COMPLEX AND LUMBAR SYNDROME
- Cancer Genetics and Therapeutics
Characterization of RPS20-related colorectal cancer predisposition: a case series from a multigene panel testing cohort
- Clinical Genetics and Therapeutics
Characterization of 297 NICU Patients with Congenital Anomalies Evaluated with Genome Sequencing
- Clinical Genetics and Therapeutics
Characterization of a Balanced Translocation Disrupting SOX9: Implications for Campomelic Dysplasia
- Education and Research Strategies
Characterizing a Cohort of Parkinson's Disease Patients and Controls in a Peripheral Biomarker Development Study
- Clinical Genetics and Therapeutics
Characterizing the impact of race, ethnicity, and genotype on heart failure outcomes in nonischemic cardiomyopathy
- Clinical Genetics and Therapeutics
Characterizing the Phenotypic and Imaging heterogeneity of SCA27B: Insights from a Retrospective Analysis
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Chatbot-assisted Informed Consent in Genomics Research
- Clinical Genetics and Therapeutics
Chromosomal Rearrangements Resulting in Beckwith-Wiedemann Syndrome and Beyond
- Laboratory Genetics and Genomics
Chromosome Breakage Analysis (CBA) is a Powerful Functional Assay for Classification of Novel Variants in Fanconi Anemia Genes.
- Prenatal Genetics
Circulating Cell-Free DNA in the Diagnosis of Hydatidiform Mole and Digynic Nonmolar Triploidy
- Laboratory Genetics and Genomics
Classification of c.293-7C>G in the CYP21A2 gene: Contributor to Congenital Adrenal Hyperplasia or Simply a Passenger Variant?
- Laboratory Genetics and Genomics
Classification of nontruncating variants in the PKD1 gene based on the large internal database
- Clinical Genetics and Therapeutics
Cleidocranial Dysplasia (CCD): a genetic tale of time where bones bend and knowledge expands.
- Laboratory Genetics and Genomics
ClinGen Curation of ClinVar: Improving a Critical Community Resource
- Clinical Genetics and Therapeutics
Clinical and Molecular Investigation of 89 Brazilian patients with Cornelia de Lange syndrome
- Clinical Genetics and Therapeutics
Clinical and personal utility of population screening for neurodevelopmental psychiatric copy number variants and sex chromosome aneuploidies in 580 adults
- Biochemical/Metabolic and Therapeutics
Clinical Characterization of Classical Homocystinuria due to Cystathionine-beta Synthase Deficiency: Results from the ACAPPELLA Study
- Laboratory Genetics and Genomics
Clinical Exome Sequencing Efficacy and Phenotypic Expansions involving Congenital Anomalies of Kidney and Urinary Tract (CAKUT)
- Laboratory Genetics and Genomics
Clinical Exome Sequencing Towards Molecular Diagnosis: Insights and Outcomes from 822 Pediatric Cases
- Laboratory Genetics and Genomics
Clinical features and molecular findings of a rare case of LGMDR18
- Clinical Genetics and Therapeutics
Clinical Genome Sequencing in the Neurodevelopmental Clinic: A Single Center Experience
- Health Services and Implementation
Clinical Genomic Screening Informed Consent Concepts and Strategies: A Rapid Scoping Review
- Laboratory Genetics and Genomics
Clinical Impact of RNA Sequencing on VUS Resolution in a Diverse Rare Disease Cohort of Over 100,000 Patients
- Clinical Genetics and Therapeutics
Clinical outcomes for patients enrolled in the MPS VII disease monitoring program (DMP)
- Clinical Genetics and Therapeutics
Clinical outcomes of MYBPC3 variant carriers in a diverse cohort of patients with hypertrophic cardiomyopathy
- Clinical Genetics and Therapeutics
Clinical practice guidelines for the diagnosis, management, and surveillance of people with LMNB1 related autosomal dominant leukodystrophy
A Consensus-Based Approach
- Clinical Genetics and Therapeutics
Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry
- Clinical Genetics and Therapeutics
Clinical Responses to Off-Label Use of Phenylbutyrate for STXBP1 and SLC6A1
- Laboratory Genetics and Genomics
Clinical significance of mRNA nonstop decay in rare disease diagnosis
- Clinical Genetics and Therapeutics
Clinical Spectrum of Autosomal Recessive Spliceosomal Gene CWC27 Variants
- Clinical Genetics and Therapeutics
Clinical Symptom Severity Correlates with Communicative Functioning Difficulties in Cornelia de Lange Syndrome
- Clinical Genetics and Therapeutics
Clinical Utility and Diagnostic Yield of Comprehensive Genetic Testing in Adults with Intellectual and Developmental Disabilities: A Single-Center Experience
- Biochemical/Metabolic and Therapeutics
Clinical Utility in Hospital-Wide Use of GDF15 as a Biomarker for Mitochondrial DNA Encoded Primary Mitochondrial Disorders
- Laboratory Genetics and Genomics
Clinical Utility of Exome and Genome Sequencing in an Adult Cohort Referred for Suspicion of Underlying Rare Disease
- Clinical Genetics and Therapeutics
Clinical Validation of Droplet Digital Polymerase Chain Reaction (ddPCR) for SMN1 and SMN2 Copy Number Determination in Newborn Screening
- Laboratory Genetics and Genomics
Clinician Survey on VUS Reporting in Panel Genetic Testing
- Clinical Genetics and Therapeutics
ClinVar-based reanalysis in the UDN cohort
- Clinical Genetics and Therapeutics
Closing the loop: biochemical analysis and the VUS dilemma
- Cancer Genetics and Therapeutics
Co-existing t(9;14)(q33;q32)/IGH Rearrangement is a Risk Factor for Lymphoid Blast Phase Transformation of Chronic Myeloid Leukemia
- Health Services and Implementation
Comparing automated vs. ACMG/AMP-based variant interpretation for the CDC Tier 1 conditions in a clinicogenomic cohort from US-based health systems
- Education and Research Strategies
Comparison of Electronic Health Record Condition Codes and Personal Health History Survey Data in the All of Us Research Program
- Health Services and Implementation
Comparison of high polygenic risk score for hypercholesterolemia and Familial Hypercholesterolemia risk in the eMERGE IV study
- Laboratory Genetics and Genomics
Comparison of prenatal cell-free DNA screen positive for monosomy X with diagnostic maternal and fetal cytogenetic studies: a single-center study
- Biochemical/Metabolic and Therapeutics
Comparison of treatment efficacy of very long chain acyl-CoA (VLCAD) deficiency with an AAV9.hVLCAD vector, synthetic VLCAD mRNA, and triheptanoin
- Clinical Genetics and Therapeutics
Complex mosaicism for up to three marker chromosomes causing partial trisomy for portions of 1p and 10p-10q: a case
- Clinical Genetics and Therapeutics
Comprehensive Phenotypic Spectrum of MED13L Syndrome: Insights from Literature and the National Brain Gene Registry
- Prenatal Genetics
Comprehensive prenatal cfDNA screening for chromosome conditions, microdeletions and monogenic conditions: validation and clinical experience in a low-risk population
- Laboratory Genetics and Genomics
Conflicting Genotype-Phenotype Data on ITSN1 as a Candidate Gene for Neurodevelopmental Disorders
- Laboratory Genetics and Genomics
Congenital Heart Disease-associated Coding and Non-Coding Mutations alter TBX5-DNA Binding Affinity
- Clinical Genetics and Therapeutics
Congenital knee and hip dislocations with brain malformation in an infant with a supernumerary chromosome +der(9)t(5;9)
- Laboratory Genetics and Genomics
Congenital Myopathy and Split-Foot Malformation: A Unique Case Without Mesoaxial Polydactyly
- Cancer Genetics and Therapeutics
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome
- Prenatal Genetics
Consideration of intravenous immunoglobulin to prenatally mitigate the development of chondrodysplasia punctata in children born to mothers with autoimmune disease
- Clinical Genetics and Therapeutics
Considerations and Challenges in Genetic Testing for Hypermobile Ehlers-Danlos Syndrome (hEDS): A Multidisciplinary Overview
- Laboratory Genetics and Genomics
Considerations of Variant Interpretation in Galactosemia: Challenges of Creating ACMG Specifications for GALT
- Clinical Genetics and Therapeutics
Consistent Genetic Loci Across Different Case Definitions of Kidney Stone Disease: GWAS Findings from the UK Biobank 500K Cohort
- Clinical Genetics and Therapeutics
Continued Clinical Improvements in Adults with Acid Sphingomyelinase Deficiency after 3-5 Years of Olipudase Alfa Treatment: Final ASCEND Trial Results
- Laboratory Genetics and Genomics
Copy number gains in RBFOX1: rare population variants or incompletely penetrant CNVs? Case reports and review of the literature
- Clinical Genetics and Therapeutics
Correlation of mitochondrial DNA content in muscle with genetic diagnosis
- Prenatal Genetics
Counseling and management of a maternal diagnosis of mosaic trisomy 8 ascertained through prenatal cell-free DNA screening
- Clinical Genetics and Therapeutics
CRISPR-Mediated Base Editing of the Irish Infantile Tay-Sachs Mutation
- Health Services and Implementation
Customized "Clinical Interpretive Reports"of Genomic Sequencing Results for Non-Genetics Providers in Safety-Net Neonatal Intensive Care Units: Development and Implementation
- Laboratory Genetics and Genomics
Cytogenetic Profiles of Clinically Diagnosed Down Syndrome (DS) Cohort Reported at a Single Centered Accredited Laboratory in Sri Lanka
- Laboratory Genetics and Genomics
Cytomictical chimerism in a phenotypically normal 46,XY woman
- Cancer Genetics and Therapeutics
Data Model and Portal Development Supporting Centralization of Genetic Information in a Provincial Research Network
- Cancer Genetics and Therapeutics
Deciphering the structural complexities of pediatric low grade gliomas
- Clinical Genetics and Therapeutics
Decoding Ambiguity: Evaluating the Psychological Harms and Utility of Returning Cancer Variants of Uncertain Significance
- Clinical Genetics and Therapeutics
Decoding Mosaicism: Unraveling the Mystery of PTCH1 Variants in a Novel Neurocutaneous Syndrome
- Health Services and Implementation
Decreasing disparities in inherited cancer syndromes through a systems approach, the At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system
- Clinical Genetics and Therapeutics
Deep Phenotyping of CTCF-Related Disorder
- Clinical Genetics and Therapeutics
Deep Phenotyping of thirty-one cases of Aicardi-Goutières syndrome
- Clinical Genetics and Therapeutics
Defect Detect: Evaluating Diagnostic Rates of Genetic Testing in Infants with Congenital Heart Defects
- Prenatal Genetics
Defining and measuring the value of genetic testing: Developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE) for prenatal care
- Clinical Genetics and Therapeutics
Deletions of the 19q13.11 region involving SCN1B are risk factors for febrile seizures
- Clinical Genetics and Therapeutics
Design of the ACCEL study: A Prospective Clinical Assessment Study in Children with Hypochondroplasia
- Laboratory Genetics and Genomics
Detection of mosaic Prader-Willi syndrome in a buccal sample by CMA and WES
- Clinical Genetics and Therapeutics
Detection of PTEN Hamartoma Tumor Syndrome (PHTS) and Related Conditions with macrocephaly and lipomas using Electronic Health Record (EHR)Triage.
- Laboratory Genetics and Genomics
Detection of Chromosomal Mosaicism - The importance of Karyotyping and FISH
- Clinical Genetics and Therapeutics
Detection of Copy Number Variants by Chromosome Microarray Verses Exome Sequencing at a Single Clinic over an Eight Year Period
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Developing a Press Release Guide for Ethical, Legal, and Social Issues of Genomic Research
- Health Services and Implementation
Developing an Actionability Framework for Population Genomic Screening
- Biochemical/Metabolic and Therapeutics
Development and Validation of a Quantitative Ultra-Performance Liquid Chromatography Quadrupole Time-of-Flight (UPLC-QTof) Method for Urine Organic Acid Analysis
- Laboratory Genetics and Genomics
Development of TAF1 genotyping assay for X-linked dystonia-parkinsonism-associated haplotype detection
- Clinical Genetics and Therapeutics
Development of a Clinical Global Impressions (CGI) Scale for Individuals with Kabuki Syndrome
- Clinical Genetics and Therapeutics
Development of a Precision Neurotherapeutics Program at Columbia
- Prenatal Genetics
Development of a Predefined Gene List for Childhood Onset Secondary Findings via Fetal Exome Sequencing
- Prenatal Genetics
Development of a prenatal genetics program at the southeast of Mexico
- Biochemical/Metabolic and Therapeutics
Development of a Radiographic Vertebral Disease Severity Score for Evaluation of Disease Progression in Alkaptonuria
- Education and Research Strategies
Development of an Educational Resource on Genetic Testing for Autism for Healthcare Providers and the Autistic Community
- Clinical Genetics and Therapeutics
Diagnostic utility of exome sequencing in patients with suspected mitochondrial disease: A Single-center Experience
- Clinical Genetics and Therapeutics
Diagnostic value of repeat expansion disorders detected in genome sequencing data
- Clinical Genetics and Therapeutics
Diagnostic Yield and Clinical Decision-Making in Hereditary Connective Tissue Disorders: Insights from an Adult Genetics Clinic
- Laboratory Genetics and Genomics
Diagnostic Yield of Autism Spectrum Disorder Patients from Hong Kong Using Genome Sequencing with Extensive Comorbidity Characterizations
- Clinical Genetics and Therapeutics
Diagnostic Yield of Exome Sequencing in Adults with Rare Disease: An Eight-Year Retrospective Study
- Clinical Genetics and Therapeutics
Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: a retrospective review of 118 cases at a single institution
- Clinical Genetics and Therapeutics
Diagnostic Yield of Ultra-rapid Whole Genome Sequencing in the NICU: A Retrospective Review of 324 Cases at a Single Institution
- Biochemical/Metabolic and Therapeutics
Dimethylglycine Dehydrogenase Deficiency in Siblings with Skeletal and Neurodevelopmental Manifestations
- Prenatal Genetics
Discordant Cell-Free DNA Screening and Ultrasound Results Aid Prenatal Diagnosis of Androgen Insensitivity Syndrome
- Clinical Genetics and Therapeutics
Discovery of Rare Disease variants specific to populations using genomic data from diverse populations in All of Us
- Laboratory Genetics and Genomics
Discrepant Genetic Laboratory Results in the Prenatal Setting: A Case Study
- Biochemical/Metabolic and Therapeutics
Discriminating Guanidinoacetate Methyltransferase Enzyme Deficiency false positives TPN babies by using the Arginine/GUAC ratio
- Clinical Genetics and Therapeutics
Disease characteristics and tissue frataxin concentrations in adults with Friedreich's ataxia participating in nomlabofusp interventional studies
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Disparities in Access and Outcomes for Hospitalized California Patients with Huntington’s Disease (HD).
- Clinical Genetics and Therapeutics
Disparities in Clinical Genetic Testing of Patients with Vascular Malformations: A Single Site Experience
- Clinical Genetics and Therapeutics
Disparities in Variants of Unknown Significance Identification in Underrepresented Populations Undergoing Outpatient Genetic Testing at UMass Memorial Healthcare
- Clinical Genetics and Therapeutics
Distinct Pathways: Exploring Rare Clinical and Genetic Presentations in Breast Cancer Associated Hereditary Cancer Syndromes
- Education and Research Strategies
Distinction in Genetics in the Preclerkship: a Pathway to Enhance Medical Students Exposure to Clinical Genetics.
- Clinical Genetics and Therapeutics
Does sponsored genetic testing for pediatric epilepsy expand access?
- Clinical Genetics and Therapeutics
Dual diagnosis in a patient with mosaic Trisomy 22 and a de novo frameshift variant in ASXL3
- Clinical Genetics and Therapeutics
Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency
- Biochemical/Metabolic and Therapeutics
Durable Fracture Rate Reduction in Patients with OI with Setrusumab Treatment: 14-Month Data from Phase 2 of the Orbit Study
- Clinical Genetics and Therapeutics
Early Diagnosis and Clinical Phenotype of GAND Syndrome
- Clinical Genetics and Therapeutics
Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome: A Systematic Review and Meta-Analysis
- Clinical Genetics and Therapeutics
Effect of Methylfolate, Pyridoxal-5′-phosphate, and Methylcobalamin Supplementation on Homocysteine and Low-Density Lipoprotein Cholesterol Levels
- Clinical Genetics and Therapeutics
Effects of Early Androgen Therapy on Infant Temperment in Males with 47,XXY
- Laboratory Genetics and Genomics
Empowering Clinicians to Resolve VUS: Presenting VUS Clarification Outcomes
- Laboratory Genetics and Genomics
Empowering Geneticists to Do Genomic Reanalysis Routinely
- Clinical Genetics and Therapeutics
Endocrinopathies in TAOK1-Related Neurodevelopmental Disorders: An Expanded Case Series on the Evolution of Symptoms in Adolescents and Young Adults
- Cancer Genetics and Therapeutics
Engaging the Nurse Navigator to Increase Genetic Testing Rate for Metastatic Prostate Cancer Patients
- Clinical Genetics and Therapeutics
Enhanced Access to Genome Sequencing and the Era of Multiple Genetic Diagnoses: Advantages and Limitations