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
- Prenatal Genetics
A Cautionary Tale of Fetoplacental Discrepancies: The Impact of Mosaicism in Prenatal Diagnosis
- 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
- 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
- Prenatal Genetics
Diagnosis of Sheldon-Hall Syndrome on Products of Conception through Genome Sequencing
- 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
- Prenatal Genetics
Distinct Prenatal Diagnostic Pathways to Uniparental Disomy: Insights from Two Cases
- 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
- Clinical Genetics and Therapeutics
Enhanced Diagnostic Precision: A Case Study Supporting Broad Genetic Testing in the Evaluation of Skeletal Disorders
- Clinical Genetics and Therapeutics
Enhancing Copy Number Variant Analysis in Exome Sequencing with Backbone Probe Optimization
- Laboratory Genetics and Genomics
Enhancing Genetic Diagnostics: The Critical Role of Enzyme Activity Assays and RNA-Sequencing as Primary Multi-Omics Screening Tools
- Clinical Genetics and Therapeutics
Enhancing Genomic Data Accessibility with Hypothes.is Parsing Tool for Variant Annotations
- Health Services and Implementation
Enhancing Inclusivity in Public Health and Genetic Research Through Culturally and Linguistically-Tailored Genetics Education Materials
- Laboratory Genetics and Genomics
Enhancing Interoperability to Enable Broader Adoption of Artificial Intelligence in Chromosome Analysis and Karyotyping: A Pilot Evaluation
- Laboratory Genetics and Genomics
Enhancing Laboratory Efficiency: Implementation of Revvity Transcribe AI for Automated Data Entry in Newborn Screening
- Laboratory Genetics and Genomics
Enhancing the Validity of Whole-Genome Association Studies: A Privacy-Preserving HWE Quality Control Method for Large-Scale Biobank Data
- Health Services and Implementation
Enhancing Ultra-Rare Disease Diagnoses through Multi-Omics Integration and Multi-Site Collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) Cohort
- Laboratory Genetics and Genomics
ERVExplorer: A comprehensive list of experimentally confirmed endogenous retroviruses (ERVs) and their potential biological relevance
- Clinical Genetics and Therapeutics
Establishing Episignatures as a Diagnostic Tool for Diabetic Embryopathy
- Clinical Genetics and Therapeutics
Evaluating indication for testing based on cluster analysis of human phenotype ontology terms
- Clinical Genetics and Therapeutics
Evaluating the Clinical Utility of a Cross-Ancestry Integrated Risk Score for Coronary Artery Disease Prevention
- Clinical Genetics and Therapeutics
Evaluating the Role of Bevacizumab in Reducing Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Systematic Review and Meta-Analysis
- Prenatal Genetics
Evaluation of prenatal cfDNA screening for trisomies 13, 18, and 21 in California, 2022-2024
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Evaluation of Researcher Knowledge and Attitudes of Community Engagement in Genomics Research and Biobanking
- Clinical Genetics and Therapeutics
Evaluation of the Genotypic and Phenotypic Spectrum of Pediatric ABCC6 Deficiency
- Prenatal Genetics
EXAMINATION OF PRENATAL CASES REFERRED FOR UNIPARENTAL DISOMY 16: REFERRAL PATTERNS, POSITIVE ASSOCIATONS AND KEY FINDINGS
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Examining Sociodemographic Factors Associated with Genomic Research Participation: Evidence from a Pediatric Rapid Sequencing Study
- Clinical Genetics and Therapeutics
EXAMINING THE PHENOTYPIC DEPTH OF THE U03 GENOMIC RESEARCH TO ELUCIDATE THE GENETICS OF RARE DISEASE (GREGoT) DATASET
- Laboratory Genetics and Genomics
Excavator: Removing the Noise in Exome Analysis Using Machine Learning
- Clinical Genetics and Therapeutics
Exome sequencing for diagnostic investigation of 267 children from Brazilian public health system (SUS) followed by reanalysis of negative/inconclusive cases
- Clinical Genetics and Therapeutics
Exome sequencing identifies a novel WNT10A pathogenic variant in a family with non-syndromic oligodontia
- Clinical Genetics and Therapeutics
Exome Sequencing in Patients with Primary Hyperparathyroidism Identifies Pathogenic Variants after Negative Panel Testing
- Clinical Genetics and Therapeutics
Exome sequencing utilization and diagnostic rate in an adult genetics clinic
- Prenatal Genetics
Expanded Carrier Screening Detects Early Actionable Metabolic Conditions
- Prenatal Genetics
Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases in prenatal diagnosis
- Clinical Genetics and Therapeutics
Expanded Molecular Newborn Screening: Comparing Results of a 256 vs.1,518 Gene Panel
- Clinical Genetics and Therapeutics
Expanding Access to Genomic Services in Primary Care: A Retrospective Review of the Primary Care Precision Medicine (PCPM) Clinic
- Biochemical/Metabolic and Therapeutics
Expanding Clinical Spectrums in Carbamoyl Phosphate Synthetase I deficiency: A Case Series of four patients - a tertiary institution's experience.
- Cancer Genetics and Therapeutics
Expanding Germline Hereditary Cancer Gene Panel Testing by Non-Genetics Providers: 3-year Experience in Large Integrated Healthcare Delivery System
- Clinical Genetics and Therapeutics
Expanding the clinical spectrum of NR4A2-related disorder
- Laboratory Genetics and Genomics
Expanding the diagnostic toolkit using long-read RNA-sequencing
- Prenatal Genetics
Expanding the fetal phenotype of USP7-related conditions
- Clinical Genetics and Therapeutics
Expanding the genotypic and phenotypic description of an ultra-rare condition: A neonatal presentation of spondylo-ocular syndrome
- Laboratory Genetics and Genomics
Expanding the Matched Annotation from NCBI and EMBL-EBI (MANE) dataset to include MANE Select for non-coding genes
- Clinical Genetics and Therapeutics
Expanding the Phenotype of EBF3-related Disorders- A Case of Pierre Robin Sequence with Cleft Palate
- Clinical Genetics and Therapeutics
Expanding the phenotype of 16p11.2 Microduplication Syndrome: Different presentation in three family members with new clinical findings
- Clinical Genetics and Therapeutics
Expanding the phenotype of biallelic variants in the MYBPC3 gene: sudden death in a teenager with a structurally normal heart.
- Clinical Genetics and Therapeutics
Expanding the Phenotype of Dyggve-Melchior-Clausen Syndrome and Smith-McCort Dysplasia: A Rare Case of Skeletal Dysplasia
- Clinical Genetics and Therapeutics
Expanding the Phenotype of Newly Described ZBTB47-related Neurodevelopmental Disorder
- Clinical Genetics and Therapeutics
Expanding the Phenotype: A Novel Case of VPS45 Deficiency with HLH and Progressive Neurological Involvement
- Clinical Genetics and Therapeutics
Expanding the Phenotypic Spectrum of ADAMTS2 related Ehlers-Danlos Syndrome, Dermatosparaxis type
- Clinical Genetics and Therapeutics
Expanding the Phenotypic Spectrum of the Nuclear Speckleopathy SRRM2-related Neurodevelopmental Disorder
- Prenatal Genetics
Expanding the Prenatal and Postnatal Phenotype of 1q21.1 Duplication: A Case Report
- Prenatal Genetics
Expanding the Prenatal Phenotype of MYRF-Related Cardiac-Urogenital Syndrome
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Exploring Attitudes Towards a New Genetic Test: Potential Applications and Ethical Considerations of Parent-of-Origin-Aware Genomic Analysis
- Clinical Genetics and Therapeutics
Exploring Genotypic Diversity in Angelman-Like Syndromes: Clinical Implications
- Clinical Genetics and Therapeutics
Exploring Ophthalmological Diagnoses in the Undiagnosed Diseases Network: Insights and Implications
- Clinical Genetics and Therapeutics
Exploring precision medicine through genome sequencing for patients suspected of rare genetic disorders
- Education and Research Strategies
Exploring the Influence of Genetic Literacy on Research Participation Among Underrepresented Populations
- Biochemical/Metabolic and Therapeutics
Exploring the Use of Emergency Investigational New Drug Therapy in 3 Pediatric Patients with Inborn Errors of Metabolism
- Cancer Genetics and Therapeutics
Expression and Prognostic Implications of Lynch Syndrome-Related Genes in Bladder Cancer
- Clinical Genetics and Therapeutics
Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: five-year interim results from the ongoing BRIGHT51 study
- Laboratory Genetics and Genomics
Extracting HMW DNA from saliva for HiFi sequencing applications
- Laboratory Genetics and Genomics
Facilitating Machine Learning and Artificial Intelligence in Genetic Databases: An Open-Source Tool for Data Integration and Summarization
- Cancer Genetics and Therapeutics
Factors associated with precancerous colon polyps (adenomas) in Lynch syndrome patients
- Prenatal Genetics
Factors Associated with Prenatal versus Postnatal Genetic Diagnostic Testing
- Clinical Genetics and Therapeutics
Familial presentation and variability in TRPV4 Brachyolmia Type 3
- Clinical Genetics and Therapeutics
Familiar Segregation of Autosomal Dominant of 46,XY DSD With Mutation in NR5A1
- Education and Research Strategies
Family Members' Knowledge and Perspectives on Alzheimer's Disease in People with Down Syndrome
- Education and Research Strategies
Family Ties: A Detroit Community Hospital Quality Improvement Project to Improve Post-Test Genetic Counseling for Patients Tested by Non-Genetics Providers
- Clinical Genetics and Therapeutics
First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent Presentation
- Education and Research Strategies
First Report of two cases of ReNU (RENU) syndrome from Southeast Asia
- Clinical Genetics and Therapeutics
Follow the Family History: Neonatal Diagnosis of YARSopathy and Congenital CMV
- Laboratory Genetics and Genomics
Follow-up of Suspected Constitutional Chromosome Abnormalities Identified in Cancer Cytogenetic Testing
- Biochemical/Metabolic and Therapeutics
Follow-up of very attenuated form of mucopolysaccharidosis type Ⅱ detected by newborn screening.
- Laboratory Genetics and Genomics
Founder effect and endogamy result in the high prevalence of Junctional Herlitz Epidermolysis Bullosa in a community from Southern India
- Clinical Genetics and Therapeutics
Four Infants with Genetic Variants Previously Associated with Lethal Osteogenesis Imperfecta Who Survived the Neonatal Period: A Case Series
- Cancer Genetics and Therapeutics
Frequency and pathogenicity of hereditary tumor-associated pathogenic variants in the Japanese general population using ToMMo 54KJPN data
- Clinical Genetics and Therapeutics
Frequency of Rare Syndromic Diseases in a Population With Early-Onset Obesity
- Ethical Legal Social Issues (ELSI) Public Health and Policy
FROM DEFICIT TO DIFFERENCE: DEPATHOLOGIZING THE LANGUAGE OF GENETICS
- Clinical Genetics and Therapeutics
From Short Stature to Facioscapulohumeral Muscular Dystrophy-2: The Benefits and Challenge of Broad-Based Sequencing
- Laboratory Genetics and Genomics
Functional analysis of two JAG1 missense variants in Alagille syndrome
- Laboratory Genetics and Genomics
Functional screening of SMARCD1 genetic variants implicated in neurodevelopmental disorders using a novel Drosophila-based humanised rescue assay
- Laboratory Genetics and Genomics
Functional Studies in Fibroblasts Cultured from Patients with Inborn Errors of Vitamin B₁₂ Metabolism
- Clinical Genetics and Therapeutics
Further Delineation of the ACTG1-Associated Baraitser-Winter Cerebrofontofacial Syndrome Phenotype
- Clinical Genetics and Therapeutics
Gastrointestinal emergencies in Cornelia de Lange Syndrome: Clinical characteristics and outcomes from a Single-Center Study
- Clinical Genetics and Therapeutics
Gastrointestinal manifestations of Osteogenesis Imperfecta: clinical description, standardized screening development, and guideline application for early intervention in the pediatric population
- Biochemical/Metabolic and Therapeutics
GAUCHER DISEASE AND A SLC26A6 VARIANT: UNEXPECTED BONE FRAGILITY
- Clinical Genetics and Therapeutics
Gene and mutation spectrum among Iranian individuals with neuromuscular disorders: An 11-year consolidated overview
- Laboratory Genetics and Genomics
Genetic basis of dysferlinopathy, a comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients
- Cancer Genetics and Therapeutics
Genetic basis of inflammatory response in prostate cancer health disparity
- Clinical Genetics and Therapeutics
Genetic Characteristic of Thai Patients with Primary Craniosynostosis
- Laboratory Genetics and Genomics
Genetic Characterization of PYCR1-Associated De Barsy Syndrome in a Pakistani Family Through Whole Exome Trio Sequencing
- Clinical Genetics and Therapeutics
Genetic Counseling for Clinical Sequencing: Addressing Variants of Uncertain Significance in Rare Disease Diagnosis
- Clinical Genetics and Therapeutics
Genetic Diversity in Breast Cancer: Unveiling Racial Differences in Mutation Profiles
- Prenatal Genetics
Genetic Etiologies of Bilateral Renal Agenesis
- Clinical Genetics and Therapeutics
Genetic Evaluation of Short Stature: Examination of Ordering Practices and Diagnostic Yield
- Laboratory Genetics and Genomics
Genetic Findings in Over 500 Individuals Tested with a Spastic Paraplegia Gene Panel
- Biochemical/Metabolic and Therapeutics
Genetic Insights from a Large-Scale Exome Sequencing Study of Type 1 Diabetes

in Ukraine
- Clinical Genetics and Therapeutics
Genetic Insights into Snijders Blok Campeau Syndrome: A Case Study of a Homozygous CHD3 Variant and Comorbidities
- Biochemical/Metabolic and Therapeutics
Genetic landscape of ALPL and other genes impacting alkaline phosphatase variation in the UK Biobank
- Cancer Genetics and Therapeutics
Genetic Testing for Hereditary Cancer in Mexico: Insights from a Private Hospital Cohort from 2007 to 2023
- Laboratory Genetics and Genomics
Genetic Testing for Inherited Red Blood Cell Disorders: Diagnostic Yield and Clinical Utility
- Prenatal Genetics
Genetics of Fetal Micrognathia: One Fetal Center's Experience
- Clinical Genetics and Therapeutics
Genetics of Perrault syndrome in a family with ten affected individuals
- Laboratory Genetics and Genomics
Genome Screening of Newborns: what can we find and what's next?
- Clinical Genetics and Therapeutics
Genome Sequencing (GS) as a First Test in a Genetics Clinic for Adults.
- Clinical Genetics and Therapeutics
Genome sequencing after negative exome sequencing: Results in a rare disease cohort
- Cancer Genetics and Therapeutics
Genome Sequencing Analysis of Extracellular Vesicle DNA from Pancreatic Cancer Patient-derived Cells Reveals Coding, Non-coding Signatures and Mutational Hotspots
- Laboratory Genetics and Genomics
Genome sequencing detects Transposable Element (TE) insertions in two diagnostic challenging cases
- Clinical Genetics and Therapeutics
Genome sequencing reveals a novel, homozygous in-frame deletion, c.367_375del, in CYP2U1 in twin sisters with early onset spastic paraplegia
- Laboratory Genetics and Genomics
Genomic breakpoint analysis facilitates the identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne Muscular Dystrophy
- Cancer Genetics and Therapeutics
Genomic Tumor Profiling and Identification of Germline Cancer Predisposition Variants in a Pediatric Cohort
- Laboratory Genetics and Genomics
Genomics for KIDS in ASEAN: Improving access to genomic testing through regional collaborations in Southeast Asia
- Biochemical/Metabolic and Therapeutics
Genotype Phenotype Correlations Inform Therapeutic Approach in Serine Palmitoyltransferase (SPT)-related Disorders
- Clinical Genetics and Therapeutics
Genotype-Phenotype Analysis of Interstitial Deletion of Chromosome 4q25q28.2: A Case Report 
- Biochemical/Metabolic and Therapeutics
Glucosylsphingosine and its utility for newborn screening for Gaucher disease
- Clinical Genetics and Therapeutics
GM3 synthase deficiency: case report of an atypical presentation
- Health Services and Implementation
Health Communication Needs and Preferences of Clinicians Returning Hypercholesterolemia Results
- Biochemical/Metabolic and Therapeutics
High Efficacy on Low-dose Empagliflozin Efficacy in Glycogen Storage Disease-1b Sibling Pair
- Clinical Genetics and Therapeutics
High Prevalence of Sitosterolemia in the Middle East: Insights from Genetic Prevalence Estimates
- Clinical Genetics and Therapeutics
High-throughput sequencing technologies uncover a loss-of-function variant of the GATAB2B gene in a GAND patient
- Clinical Genetics and Therapeutics
HNRNP-Related Neurodevelopmental Disorders: Expanding knowledge of known conditions and prompting novel studies into candidate genes
- Clinical Genetics and Therapeutics
How helpful are sleep studies in determining surgical need in infants with achondroplasia?
- Clinical Genetics and Therapeutics
Hunter Syndrome and Hemophilia A: A Case of Two X-Linked Syndromes Occurring in One Individual
- Clinical Genetics and Therapeutics
Hutchinson-Gilford Progeria Syndrome due to homozygous missense variant of LMNA gene
- Clinical Genetics and Therapeutics
HYALINE FIBROMATOSIS SYNDROME: MUSCULOSKELETAL MANIFESTATIONS AND BONE HEALTH
- Biochemical/Metabolic and Therapeutics
Hyperammonemia in a child with short bowel syndrome: urea cycle disorder or complication of altered gastrointestinal function?
- Education and Research Strategies
Hyperammonemia in the Acute Catabolic State
- Clinical Genetics and Therapeutics
Identification and Diagnostic Protocol for Suspected Acid Sphingomyelinase Deficiency in a Medical Genetics Service in São Paulo
- Clinical Genetics and Therapeutics
Identification of CFTR variants in Clinically Diagnosed Cystic Fibrosis Patients from Pakistan using Next Generation Sequencing
- Clinical Genetics and Therapeutics
Identification of CNKSR2 Pathogenic Variant and Detection of Strong X-chromosome Inactivation in a Female with Severe DEE-SWAS
- Clinical Genetics and Therapeutics
Identification of ZMIZ1-related Neurodevelopmental Disorder in Neonates with Atrioventricular Septal Defects: Expansion of Phenotypes and Implications for Counseling
- Laboratory Genetics and Genomics
Identification of a balanced rearrangement of 22q11.2 in a family with a history 22q11.2 microduplication and microdeletion syndromes
- Clinical Genetics and Therapeutics
Identification of a Novel Homozygous TMEM53 Variant in a Patient with Extensive Homozygosity:Classification Challenges Despite Phenotypic Consistency with Craniotubular Dysplasia
- Clinical Genetics and Therapeutics
Identification of a Novel RPS6KA3 Variant in a Female Child with Features of Coffin-Lowry Syndrome: A Case Study
- Laboratory Genetics and Genomics
Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome
- Clinical Genetics and Therapeutics
Identification of a PTH1R Gene Variant in a Family with Primary Failure of Tooth Eruption: A Case Report
- Clinical Genetics and Therapeutics
Identification of Genes and Pathways with Varied Expression Using Publicly Accessible RNA-Sequencing Data from Nasal Swabs of COVID-19 Patients
- Laboratory Genetics and Genomics
Identification of pathogenic expansions within FXN in individuals with suspected Friedreich Ataxia diagnoses
- Clinical Genetics and Therapeutics
Identification of rare genetic diseases clusters in the Colombian pacific region: clinical, molecular, and geographical characterization
- Laboratory Genetics and Genomics
Identification of rare genetic variants in keratoconus families via exome sequencing
- Cancer Genetics and Therapeutics
Identifying Disparities in Referral for Hereditary Cancer Genetic Testing in a Population Eligible for Targeted Therapy 
- Biochemical/Metabolic and Therapeutics
Identifying Metabolic Markers for the Early Differentiation of LCHAD and TFP Deficiencies: Insights from Acylcarnitine Profiling
- Clinical Genetics and Therapeutics
Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Identifying Unmet Needs: Experiences of Black and Latin-X Pregnant People Undergoing Prenatal Diagnosis for Ultrasound Identified Fetal Anomalies
- Clinical Genetics and Therapeutics
Impact and evolution of a philanthropic global network providing clinical genomic testing
- Laboratory Genetics and Genomics
Impact of Gene-Disease Relationship Curation on Patient Diagnostics and Panel Design
- Laboratory Genetics and Genomics
Impact of Gene-Disease Specific Guidelines on Variant Reclassification in a Clinical Hereditary Cancer Setting
- Biochemical/Metabolic and Therapeutics
Impact of Homocystinuria on the Brain and Nervous System
- Laboratory Genetics and Genomics
Impact of Leveraging Deep Neural Networks for Automated Metaphase Finding
- Clinical Genetics and Therapeutics
Impact of Measuring Mitochondrial DNA Heteroplasmy Rates Using Different Tissues in 103 Patients with Mitochondrial Disease
- Health Services and Implementation
Impact of Population Genomic Screening on Patient Behavior and Care: Changes in Preventive Screening Behaviors Among HBOC Positive Individuals
- Biochemical/Metabolic and Therapeutics
Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns
- Prenatal Genetics
Impact of Prenatal Trio-Exome Sequencing on Future Reproductive Decisions: A Qualitative Study
- Laboratory Genetics and Genomics
Impact of Sample Age on RNA Sequencing Metrics from FFPE Tissues Using Ion Torrent Genexus^TM Integrated Sequencer
- Laboratory Genetics and Genomics
Impact of Variant Reclassification: Insights from Greenwood Genetic Center
- Clinical Genetics and Therapeutics
Impacts of stigma on adults with thalassemia in the US: Who is impacted and what can we do?
- Laboratory Genetics and Genomics
Implementation of cfDNA Pancreatic Cancer Test in High-Risk Patients with Genetic and/or Family History of Cancer in a Clinical Setting
- Laboratory Genetics and Genomics
Implementation of pharmacogenomic DPYD-guided fluoropyrimidine dosing for cancer patients in Saskatchewan, Canada
- Laboratory Genetics and Genomics
Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA
- Clinical Genetics and Therapeutics
Implementing Genetic Testing and Counseling in a Rare Lung Diseases Clinic at a Pediatric Tertiary Care Center
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Implementing Homocysteine into First-Tier Mass Spectrometry Tests in Newborn Screening for Detection of Homocystinurias in New York State
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Implementing Next-Generation Sequencing as Part of Newborn Screening in State Public Health Laboratories: Status and Barriers
- Clinical Genetics and Therapeutics
Implementing Preemptive Pharmacogenetic Testing in Populations to Mitigate Adverse Cardiovascular Events and Identify High-Risk Individuals
- Laboratory Genetics and Genomics
Implementing Structural Variant Analysis in Codicem, a Comprehensive Clinical Variant Analysis Platform
- Health Services and Implementation
Implications and Ramifications of Using the CDC Tier 1 Genetic Screening Concept in East Asian Populations
- Cancer Genetics and Therapeutics
Implications of multiple germline variants identified by panel-based cancer genetic testing
- Prenatal Genetics
Importance of expanded prenatal carrier screening in infertile patients
- Clinical Genetics and Therapeutics
Importance of long-term follow-up in the prognosis of Mucopolysaccharidosis IV-A: A case report from southwestern of Colombia
- Laboratory Genetics and Genomics
Improved algorithms for optical genome mapping workflows in constitutional disease and oncology applications
- Health Services and Implementation
Improved breast cancer screening adherence among participants receiving a negative result from a multi-health system Population Genomics Screening program
- Laboratory Genetics and Genomics
Improved Karyotyping Efficiency with Artificial Intelligence: a Multicenter Evaluation of Peripheral Blood Karyogram
- Clinical Genetics and Therapeutics
Improvement in Refractory Bone Pain with Infliximab in an Adolescent with Camurati-Engelmann Disease
- Biochemical/Metabolic and Therapeutics
Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study
- Health Services and Implementation
Improving Access to Genetics Care through Development and Implementation of Standardized Education and Training of Advanced Practice Providers
- Biochemical/Metabolic and Therapeutics
Improving care for patients with Hyperammonemia: Use of Quality and Safety Frameworks and Creation of a Clinical Care Pathway
- Laboratory Genetics and Genomics
Improving Rare Disease Diagnosis: Performance of an Automated Pipeline for Genomic Reanalysis
- Prenatal Genetics
Incidental Detection of a 33.8Mb Maternal Xq Deletion During Prenatal Screening: A Case Presentation
- Clinical Genetics and Therapeutics
Incidental Findings in Rapid Exome and Genome Testing in Pediatric ICU: Clinical and Psychological Implications
- Clinical Genetics and Therapeutics
Incidentally Identified Twin Chimerism: A Case Series
- Clinical Genetics and Therapeutics
Incomplete Penetrance Associated With A Familial Loss of Function NAA15 Variant
- Health Services and Implementation
Incorporating Genomic Medicine to Improve Risk Stratification in Severe Hypercholesterolemia: Comparing Implementation Outcomes from Two Health Systems
- Laboratory Genetics and Genomics
Incremental yield for Genome Sequencing in individuals with inherited retinal diseases
- Biochemical/Metabolic and Therapeutics
Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase
- Clinical Genetics and Therapeutics
Inequities in Eligibility for Cystic Fibrosis Modulator Therapy Based on Pathogenic/Likely Pathogenic CFTR Gene Variants Identified Through Carrier Screening
- Cancer Genetics and Therapeutics
Influence of Preoperative Lynch Syndrome Diagnosis on Surgery in Patients with Colorectal Cancer
- Clinical Genetics and Therapeutics
Inherited SHANK1 pathogenic variant in 3-year-old male with neurodevelopmental delay, behavioral challenges, laryngomalacia and overgrowth: a case report
- Clinical Genetics and Therapeutics
Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel
- Biochemical/Metabolic and Therapeutics
Initial psychometric evaluation of the Adult Symptom Severity and Impacts Scale (PKU-SSIS) using interim data from the OPAL study
- Clinical Genetics and Therapeutics
Inpatient Genetics Service and Testing Trends: A Retrospective Multi-Institution Analysis (2021-2024)
- Cancer Genetics and Therapeutics
Integrating Germline Analysis with Tumor Sequencing: Advancing Cancer Genomics
- Biochemical/Metabolic and Therapeutics
Integrating metabolic, genetic, and demographic data for enhanced newborn screening
- Prenatal Genetics
Integrating Next-Generation Sequencing with Deep Phenotyping: Enhancing Prenatal Diagnostic Precision and Unveiling the Comprehensive Phenotypic Spectrum of Skeletal Disorders
- Clinical Genetics and Therapeutics
Integration of a Bone Marrow Failure Germline Panel into the Comprehensive Clinical Genomics Pipeline at St. Jude Children’s Research Hospital
- Clinical Genetics and Therapeutics
Interdisciplinary Variant Re-Classification: FGFR3 as an example of genotypic investigation in suspected skeletal dysplasia population
- Biochemical/Metabolic and Therapeutics
Interim Analysis of the Efficacy and Safety of Weekly Intravenous Tividenofusp Alfa in Mucopolysaccharidosis Type II: A Phase 1/2 Study
- Biochemical/Metabolic and Therapeutics
Interim Results From the APHENITY Extension Study: Sepiapterin Reduces Blood Phe With Improved Dietary Phe Tolerance in Participants With Phenylketonuria
- Biochemical/Metabolic and Therapeutics
Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes.
- Laboratory Genetics and Genomics
Introns to Insights: The Transformative Power of RNA Sequencing in the Diagnosis of Rare Genetic Disorders
- Clinical Genetics and Therapeutics
Investigating Racial Differences and Genotype-Phenotype Variation in Marfan Syndrome: A Retrospective Analysis of Genetic and Clinical Features
- Clinical Genetics and Therapeutics
Investigating Sex Differences in the Behavioral Phenotypes of Phelan-McDermid Syndrome, Tuberous Sclerosis Complex, and PTEN Hamartoma Tumor Syndrome
- Laboratory Genetics and Genomics
Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease
- Prenatal Genetics
Investigating the use of SpliceAI in Variant Reanalysis of a Cohort of Fetuses with Congenital Brain Abnormalities
- Clinical Genetics and Therapeutics
Investigation of the cooperation between Kmt2d and Tbx1 reveals shared developmental pathways in 22q11.2DS
- Clinical Genetics and Therapeutics
JOURNEY: A natural history study of limb-girdle muscular dystrophies R3–R5: baseline characteristics of study cohort
- Clinical Genetics and Therapeutics
KAT7 variants cause deficient histone acetylation in a new neurodevelopmental disorder with cerebellar anomalies
- Clinical Genetics and Therapeutics
Kleefstra Syndrome-1 Presenting with Peters Anomaly and Syndactyly: Phenotypic Expansion
- Laboratory Genetics and Genomics
Lab-on-Chip Multiplexed qPCR Analysis Utilizing Melting Curve Analysis Detects Up to 144 Alleles with Sub-hour Turn-around Time
- Health Services and Implementation
Laboratory Testing of CFTR Gene in Light of Evolving Professional Guidelines and Standards for Carrier Screening– A Reference Laboratory’s Experience
- Education and Research Strategies
Lamin A/C-Related Dilated Cardiomyopathy: Patient-derived Induced Pluripotent Stem Cells to Study Mutation and Cell Type-specific Pathogenic Mechanisms of Heart Disease
- Cancer Genetics and Therapeutics
Landscape of Thai Hereditary Colorectal Cancer: Insights from 941 Cases
- Clinical Genetics and Therapeutics
Late Onset Biotinidase Deficiency Misdiagnosed as Neuromyelitis Optica: A Case Report and Review of Diagnostic Challenges
- Education and Research Strategies
Learning from Artificial intelligence: Leveraging AI to Modify a Direct-to-Consumer Genetic Testing Point of Care Tool.
- Laboratory Genetics and Genomics
Learning phenotypes from 4M+ patients with paired genotypes and phenotypes
- Clinical Genetics and Therapeutics
Let It Grow: Expanding the Phenotype of PPP3CA Mutations to Include Failure to Thrive
- Prenatal Genetics
Lethal hypophosphatasia associated with recurrent pregnancy loss: From carrier screening to preimplantation genetic testing. A case report.
- Clinical Genetics and Therapeutics
Leveraging a Genotype-First Approach in All of Us Cohort to Describe Prevalence and Phenotypic Spectrum of Rare Genetic Disorders
- Laboratory Genetics and Genomics
Leveraging dbSNP for Screening Rare and Novel Genetic Variants in Disease and Cancer Research
- Education and Research Strategies
Leveraging DNA Methylation Towards Comprehensive Rare Disease Diagnostics
- Clinical Genetics and Therapeutics
Linkage Disequilibrium Between SLC12A3 and HYDIN Pathogenic Variants in The Old Order Amish Community
- Cancer Genetics and Therapeutics
Liquid biopsy for early cancer detection in children and adults with hereditary cancer syndromes across Canada
- Laboratory Genetics and Genomics
LLM-Aided Script Development for APOE Gene Haplotype Analysis in Large-Scale Genomics
- Clinical Genetics and Therapeutics
Loeys-Dietz Syndrome: Phenotyping by Two Genotype-First Methods
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD
- Clinical Genetics and Therapeutics
Long-Read Genome Sequencing to Diagnose Rare Disease in a State-Funded Study
- Clinical Genetics and Therapeutics
Longitudinal Patterns of Antidepressant Usage in the Context of CYP2C19 Genotype Among All of Us Participants
- Laboratory Genetics and Genomics
Low-level somatic convoluted indel variants in C-terminal region of TEK revealed by deep sequencing on patients with vascular malformations
- Clinical Genetics and Therapeutics
Macroglossia and elevated lactate as initial presenting features for cardiofaciocutaneous syndrome
- Health Services and Implementation
Mainstreaming Genetics: Evaluation of a digital application to scale and spread oncologist-initiated genetic testing
- Health Services and Implementation
Mainstreaming Genomic Testing to Increase Diagnostic Accessibility for Adults with Intellectual and Developmental Disabilities
- Clinical Genetics and Therapeutics
Male non-lethal FLNA phenotypes: medical and counseling challenges
- Biochemical/Metabolic and Therapeutics
Managing BCKDK Deficiency on the Frontier:Treating BCKDK Deficiency in an Underserved Hutterite Community
- Biochemical/Metabolic and Therapeutics
March MADDness – A diagnostic dilemma with genotype/phenotype discordance
- Biochemical/Metabolic and Therapeutics
Marked phenotypic heterogeneity associated with a heterozygous pathogenic variant in the acetyl-CoA acyltransferase 2 gene.
- Prenatal Genetics
Maternal Mosaicism for TRPV4 p.R269H and Siblings with Variable Phenotypes, Including Prenatal Ultrasound Findings Associated with Lethality
- Health Services and Implementation
Maximizing Equity in Newborn Screening via Reporting Variants of Uncertain Significance (VUS)
- Clinical Genetics and Therapeutics
Medical Biases and Misconceptions Impact Rett Syndrome Diagnoses in Males
- Prenatal Genetics
Meiotic Recombination on Display Through Preimplantation Genetic Testing for Two X-Linked Disorders
- Clinical Genetics and Therapeutics
Mental Health and Quality of Life in Thoracic Aortic Disease: Evaluating the Impact of the MacNew Instrument and Support Resources
- Biochemical/Metabolic and Therapeutics
Metabolic Approach for the Development and Validation of Candidate Treatments for Phelan-McDermid Syndrome
- Laboratory Genetics and Genomics
Methylation Analysis and Karyotyping as Follow-up Tests for Females with FMR1 Premutation and Full Mutation
- Clinical Genetics and Therapeutics
Microdeletion and Microduplication of 15q11.2-q13 share a neurodevelopmental phenotype
- Biochemical/Metabolic and Therapeutics
Mitochondrial Complex II deficiency: heterozygous loss of function variant in the SDHA gene causing a severe neonatal phenotype.
- Biochemical/Metabolic and Therapeutics
Mitochondrial Copy Number in Undiagnosed and Rare Monogenic Diseases.
- Clinical Genetics and Therapeutics
Mixed and blended Phenotype of Sotos Syndrome and KBG Syndrome: Clinical Features in a Girl with Both Syndromes
- Laboratory Genetics and Genomics
Mobile Element Insertion Detection in Genome Sequencing of a Cohort of Unsolved Cases
- Clinical Genetics and Therapeutics
Molecular and clinical diagnostic outcomes of a changing workflow for hypermobility and Ehlers-Danlos syndrome referrals
- Clinical Genetics and Therapeutics
Molecular Diagnosis Actively and Immediately Changes Treatment Plan in Patients Clinically Diagnosed with Congenital or Idiopathic Spinal Deformities
- Laboratory Genetics and Genomics
Molecular diagnosis of DMD-related dystrophinopathies in patients with non-representative phenotypes by using a broad neuromuscular next generation sequencing (NGS) panel
- Cancer Genetics and Therapeutics
Molecular Docking and Molecular Dynamics Studies Reveal Secretory Proteins as Novel Targets of Temozolomide in Glioblastoma Multiforme.
- Biochemical/Metabolic and Therapeutics
Molybdenum Cofactor Deficiency: Results of Rapid S-Sulfocysteine Analysis and Genome Sequencing Still Not Rapid Enough
- Clinical Genetics and Therapeutics
Mosaic 46, XY / 47, XXY With SRY Deletion in a Female With Complete Gonadal Dysgenesis: The Second Documented Case
- Clinical Genetics and Therapeutics
Mosaic double aneuploidy: a rare case of 45,X/47,XX,+18 mosaicism and review of the literature
- Clinical Genetics and Therapeutics
Most Infants with Prenatal Osteogenesis Imperfecta Diagnosis and Poor Prognosis Survive Without Requiring Long-term Respiratory or Feeding Support
- Laboratory Genetics and Genomics
Mucopolysaccharidosis Type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes
- Cancer Genetics and Therapeutics
Multi-Gene Panel Testing Within the Context of Limited Family Structure in Single Cases of Breast Cancer
- Health Services and Implementation
Multidimensional Utility of Genomic Autopsy for Infant Mortality
- Clinical Genetics and Therapeutics
Multimodal Analysis of Language Regression Using Genome Sequencing, Neuroimaging and Neurophysiologic Findings in a Cohort of Minimal-to-Nonverbal Autistic Children
- Prenatal Genetics
Multiple Deletions In Chromosome 13 Mediated By Chromothripsis: A Case Report
- Clinical Genetics and Therapeutics
Mulvihill-Smith syndrome in a Mongolian adolescent: a case report and review of the literature
- Laboratory Genetics and Genomics
Natural Language Processing for Deep Phenotyping of Patients Receiving Genomic Testing Enables Effective Gene Prioritization in a Clinical Diagnostics Pipeline
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Navigating Uncertainty: Explorative Study of Factors Influencing Carrier Testing in Siblings of Individuals with Purine and Pyrimidine Metabolism Disorders
- Laboratory Genetics and Genomics
NEGR1 Intragenic Exonic Deletions Strengthen the Association with Neurodevelopmental Disorders
- Clinical Genetics and Therapeutics
Neurocognitive Profile of ODLURO Syndrome: Emergent Overlapping Trends Across KMT2 Disorders
- Biochemical/Metabolic and Therapeutics
Neuropsychiatric Symptom Burden of Cerebrotendinous Xanthomatosis, the Importance of Diagnosing Early, and the Impact of CDCA Treatment: A US-based Survey
- Clinical Genetics and Therapeutics
Neuropsychological Trends in Beck Fahrner Syndrome: Disrupted DNA Demethylation Machinery and Effects on Executive Function
- Clinical Genetics and Therapeutics
New Familial Variant Identified in CSDE1-Associated Neurodevelopmental Disorder
- Clinical Genetics and Therapeutics
New Insights into the Genetic Landscape of DMD Gene Mutations in Iran and the Applicability of Exon Skipping Therapies
- Clinical Genetics and Therapeutics
New Pathogenic Variant in WT1 Disorder in Previously Healthy 3-Year Old Patient
- Health Services and Implementation
Newborn Screening Follow Up in Rural Indiana: A 10-year Retrospective Review
- Biochemical/Metabolic and Therapeutics
Newborn screening predicts phenotype conversion and developmental outcome in hyperphenylalaninemia
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Newborn Sequencing: Approaches taken by programs around the globe
- Laboratory Genetics and Genomics
Newborn with Kagami–Ogata syndrome and upd(14)pat characterized by trio SNP array, Mendelian Inheritance Error and genotyping analyses
- Clinical Genetics and Therapeutics
Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis
- Clinical Genetics and Therapeutics
NFIX variants may cause a neurodevelopmental disorder without the dysmorphic features of Malan syndrome
- Clinical Genetics and Therapeutics
Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
- Prenatal Genetics
Noninvasive Detection of Twin Zygosity Using Genome-wide Linkage Disequilibrium Information
- Prenatal Genetics
Noninvasive prenatal diagnosis of facioscapulohumeral muscular dystrophy using SNP-based amplicon sequencing
- Laboratory Genetics and Genomics
Novel De Novo KAT6A Variant in a Pediatric Patient with Multisystem Involvement
- Clinical Genetics and Therapeutics
Novel bi-allelic variants in GJC2 associated Pelizaeus-Merzbacker-like disease in three patients at a single center in North India: Case series
- Clinical Genetics and Therapeutics
Novel Biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20; a case solved by multi-omics research re-analysis
- Prenatal Genetics
Novel fetal phenotype for “FRYL-related neurodevelopmental disorder with multiple anomalies
- Clinical Genetics and Therapeutics
Novel Genetic Mutation in CACNA1B Linked to Pediatric Focal Epilepsy
- Clinical Genetics and Therapeutics
Novel Inheritance Pattern of Marfan Syndrome due to FBN1 Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling
- Clinical Genetics and Therapeutics
Novel Presentation of Congenital Bile Acid Synthesis Defect-3 with Skeletal Abnormalities and Hypotonia
- Clinical Genetics and Therapeutics
Novel UBA1 Variant Associated with Attenuated X-linked SMA Phenotype
- Clinical Genetics and Therapeutics
Novel variant identified in the TET3 gene: a mother-daughter case that expands the phenotype of TET3-related disorders.
- Clinical Genetics and Therapeutics
Obesity Prevalance in DDX3X-Related Neurodevelopmental Disorder
- Biochemical/Metabolic and Therapeutics
Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States
- Laboratory Genetics and Genomics
Opportunistic screening for broad range of clinically relevant secondary findings: Outcomes of exome analysis in the Incidental Genomics RCT
- Laboratory Genetics and Genomics
Opportunities for precision medicine in hereditary disease inferred from large-scale, real-world diagnostic genetic testing results
- Clinical Genetics and Therapeutics
Optic genome mapping reveals a complex chromosome rearrangement disrupting SYT1 in an individual with a neurodevelopmental disorder
- Health Services and Implementation
Optimization of Clinical Efficiency: Evaluation of a Patient-Centered Alternative Genetics Care Provision Model for Individuals with Autism
- Cancer Genetics and Therapeutics
Optimizing FISH Results in Multiple Myeloma: Plasma Cell Selection via Flow Cytometry
- Cancer Genetics and Therapeutics
Original protocol for presumed germline pathogenic variants in cancer genome profiling tests
- Biochemical/Metabolic and Therapeutics
Outcomes of a pediatric patient with late-onset Pompe disease switching from high‑dose alglucosidase alfa to standard-dose cipaglucosidase alfa plus miglustat
- Cancer Genetics and Therapeutics
Over-Representation of PMS2CL Pseudogene Interference in PMS2 Testing in a Non-European Cohort
- Clinical Genetics and Therapeutics
Overall experience and satisfaction of genetic clinicians with electronic health records (EHR)
- Prenatal Genetics
Parental Emotional Experiences and Coping Strategies During Prenatal Sex Chromosome Aneuploidy Diagnosis
- Health Services and Implementation
Parental needs during pediatric whole genome sequencing for developmental disorders: an interview study
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Parental Perspectives on Pediatric Genomic Testing, Research, and Data Management in a Multicultural Population
- Clinical Genetics and Therapeutics
Parsing autism heterogeneity: phenotypic differences between individuals across genes of different effect sizes
- Clinical Genetics and Therapeutics
Partial de novo SOX6 duplication in a patient with macrocephaly, overgrowth and developmental regression
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Participants' Experiences with and Perspectives on Genomic Research in the University of Wisconsin Undiagnosed Disease Program
- Prenatal Genetics
Paternal expanded carrier screening after positive maternal results: perceptions and barriers to screening
- Clinical Genetics and Therapeutics
Pathogenic variant in DACH1 may cause a new neurodevelopmental syndrome with hearing loss and nephropathy
- Clinical Genetics and Therapeutics
Pathological Characteristics and Alterations in Proteomic Profiles of preclinical models Harboring Patient-Derived Point Mutation in the WDR45 Gene
- Health Services and Implementation
Pathways to Precision Cancer Care: Integrating Genetic Services into a Nationwide, Risk-Adjusted Cancer Program
- Education and Research Strategies
Patient Uptake of Genetic Counseling in the eMERGE Network: Initial Experiences Returning Polygenic and Monogenic Results using Microsoft Bookings
- Clinical Genetics and Therapeutics
PATIENT WITH A NOVEL STAG2 MATERNALLY INHERIETED MUTATION AND A NOVEL CELSR3 DENOVO VARTIANT
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Payer Perspectives of Genomic Testing: Results from a Systematic Literature Review
- Clinical Genetics and Therapeutics
Pediatric Neurologists' Decision-Making Regarding Genetic Testing for Patients with Developmental Delay/Intellectual Disability: A Nationwide Survey in Japan
- Clinical Genetics and Therapeutics
Penetrance and Phenotypic Findings of Cardiovascular Variants Identified from Biobank, Secondary, and Unanticipated Findings in an Adult Clinical Cohort
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Perceptions of Carrier Screening in Anabaptist and Jewish Populations
- Laboratory Genetics and Genomics
Performance evaluation of a PCR/Nanopore workflow for carrier screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome
- Cancer Genetics and Therapeutics
Performance of Amplicon-based Next Generation Sequencing in Detection and Quantification of FLT3-ITDs as Compared to Conventional PCR-based Testing
- Prenatal Genetics
Persistent clenched hands with or without adducted thumbs, a fetal ultrasound finding in neuronopathic Gaucher disease
- Health Services and Implementation
Perspectives from an Asian population regarding reproductive carrier screening implementation
- Health Services and Implementation
Pharmacogenomic Implications of Genes on the American College of Medical Genetics Secondary Findings List
- Cancer Genetics and Therapeutics
Phenotype Prediction Using Cell-Free DNA Fragmentation as a Predictor of Clinical Severity in Neurofibromatosis Type 1 (NF1)
- Biochemical/Metabolic and Therapeutics
Phenotypic expansion of Menkes disease in a small cohort: one institution’s experience
- Clinical Genetics and Therapeutics
Phenotypic predictors of dual genetic diagnosis in people with autism
- Clinical Genetics and Therapeutics
PIK3CA-related Overgrowth Syndrome: To Exome or Not?
- Clinical Genetics and Therapeutics
Polygenic and rare variant contributions to the genetic architecture of familial hypercholesterolemia in a Mexican registry cohort
- Biochemical/Metabolic and Therapeutics
Population-Specific Structural Variation Linked to Metabolic Diseases in People of Pacific Ancestry
- Laboratory Genetics and Genomics
Post-translational processing of GAA protein associated with GAA variants may explain the clinical variability observed amongst Pompe disease patients
- Prenatal Genetics
Practical implementation of ACOG and ACMG carrier screening guidelines at a single academic medical center
- Health Services and Implementation
Practical Implications and Results of Clinical Exome and Genome Order Review at a Pediatric Academic Medical Center
- Education and Research Strategies
Preaching to the Choir: Genetics Providers Must Break Out of Their Silos to Integrate Genomics in All of Medicine
- Clinical Genetics and Therapeutics
Precision Medicine in Action: Implementation and utility of pharmacogenomic testing in a clinical setting
- Clinical Genetics and Therapeutics
Precision molecular diagnosis and treatment of vascular anomalies via ultra-deep genomic sequencing of affected tissue and a multidisciplinary care model
- Health Services and Implementation
Predicted Outcomes of Universal Genetic Counselor First Appointments in a Pediatric and General Genetics Clinic
- Clinical Genetics and Therapeutics
Predicting the Significance of Variants in Parkinson's Disease
- Clinical Genetics and Therapeutics
Prediction of tissue frataxin levels with long term administration of nomlabofusp in adults with Friedreich's ataxia using modeling and simulations
- Cancer Genetics and Therapeutics
Predictive Accuracy of Liquid Biopsy for Comprehensive Genomic Profiling of Solid Tumors
- Prenatal Genetics
Predictive Outcomes of Fetal Micrognathia: One Fetal Center's Experience
- Prenatal Genetics
Preimplantation genetic diagnosis as a strategy to prevent having a child born with Norrie disease
- Clinical Genetics and Therapeutics
Preliminary Findings from the ABCDEFG (Adult Brain Cohort – Dissecting Efficacy and Efficiency of First-line Genome-wide sequencing) Study
- Laboratory Genetics and Genomics
Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Prenatal Aneuploidy Screening and Testing Decisions: A Qualitative Study of Patient Motivations and Misconceptions in the Age of Cell-Free DNA
- Prenatal Genetics
Prenatal chromosomal microarray classification and reporting among screen positive cases in California
- Prenatal Genetics
Prenatal diagnosis of a rare immunodeficiency prompted by increased nuchal translucency
- Prenatal Genetics
Prenatal diagnosis of chromosomal abnormalities using QF-PCR and chromosomal microarray analysis at a single centre
- Prenatal Genetics
Prenatal diagnosis of Pretzel Syndrome: A case report
- Prenatal Genetics
Prenatal Diagnosis of Snijders-Blok Campeau Syndrome in a Fetus with Dandy Walker Malformation
- Prenatal Genetics
Prenatal Findings of Mevalonate Kinase Deficiency in an MVK I268T Homozygous Fetus
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Prenatal Genomic Testing and Abortion: Parental Perspectives in the Context of a Fetal Structural Anomaly
- Prenatal Genetics
Prenatal Ultrasound Diagnosis of Complex Cardiac Defects and Heterotaxy Syndrome Associated with DNAH9 Gene Pathogenic Variant
- Prenatal Genetics
Prenatal whole genome sequencing to diagnosis rare presentations of hydrops fetalis
- Clinical Genetics and Therapeutics
Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies
- Prenatal Genetics
Prenatally diagnosed 45,X/46,XY mosaicism with a male phenotype
- Prenatal Genetics
Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome with a Novel Variant
- Biochemical/Metabolic and Therapeutics
Presentation and Diagnosis of Adolescent-Onset HMBS-Related Leukoencephalopathy
- Cancer Genetics and Therapeutics
Prevalence of Germline Double Heterozygosity for Pathogenic Variants in Thai Cancer: A Study of 8,068 Patients
- Clinical Genetics and Therapeutics
Prevalence, Penetrance, and Phenotypic Expression of Cardiomyopathy-Associated Genetic Variants in a Quaternary Medical Center-based Biobank
- Laboratory Genetics and Genomics
Prognostic Factors for Pediatric Osteosarcoma
- Biochemical/Metabolic and Therapeutics
Progressive Neurological Symptoms in a 36-Year-Old Female: Clinical Challenge
- Clinical Genetics and Therapeutics
Project FIND-OUT: Outpatient Genome Sequencing in Expanded Pool of Symptomatic Infants at Risk for Genetic Neurodevelopmental Disorders Provides Earlier Diagnoses
- Laboratory Genetics and Genomics
Provenance/Identity Testing in Genome Sequencing: A Single Institution’s Experience
- Education and Research Strategies
Put It in the Tracking Database!"Using REDCap to Enhance Patient Outcome Tracking in a Tertiary Genetics Clinic
- Clinical Genetics and Therapeutics
Qualitative Interviews to Support the Development of a Patient-Reported Outcome (PRO) Measure for Glycogen Storage Disease Type Ia
- Clinical Genetics and Therapeutics
Quantitative Muscle Ultrasound as a Window into Disease Progression in Infantile-Onset Pompe Disease
- Clinical Genetics and Therapeutics
Racial Disparities of VUS Results – Pediatric Neurodevelopmental Disorders
- Clinical Genetics and Therapeutics
RAD51Related Fanconi Anemia is Commonly Associated with VACTERL: Expanding the Phenotypic Spectrum with a Fifth Reported Case<
- Clinical Genetics and Therapeutics
Radio-Tartaglia Syndrome in Males, Clinical Data Indicate a Relatively Mild Phenotype with Predominantly Psychiatric Symptoms
- Cancer Genetics and Therapeutics
Rapid detection of PML::RARA fusions in acute promyelocytic leukemia using CRISPR/Cas9-mediated nanopore sequencing with adaptive sampling
- Clinical Genetics and Therapeutics
Rapid Exome/Genome Sequencing in acute paediatric settings influences acute and long-term management of patients and their families
- Health Services and Implementation
Rapid Genome Sequencing Identifies Treatable Conditions in Non-critically Ill Hospitalized Children
- Health Services and Implementation
Rapid Genomic Testing: A Retrospective Study of Institutional Utilization and Outcomes
- Clinical Genetics and Therapeutics
Rare Adult Case of Stüve-Wiedemann Syndrome
- Clinical Genetics and Therapeutics
Rare case of Spondylo-ocular syndrome diagnosed in siblings from North India
- Prenatal Genetics
Rare Clinical Gene Variants of TUBA1A: Tubulinopathy-Related Brain Malformation Spectrum Disorder
- Ethical Legal Social Issues (ELSI) Public Health and Policy
Rare Disease Support Networks Lack Accessibility for Non-English Speaking Patients.
- Prenatal Genetics
Rate of prenatal diagnostic testing among women with genetic conditions
- Laboratory Genetics and Genomics
Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab
- Cancer Genetics and Therapeutics
Real world evidence of germline alterations in women with Breast and Ovarian cancer beyond BRCA from South Asian population
- Laboratory Genetics and Genomics
Real-World Evaluation of ExpansionHunter for Detecting STR Expansions in Whole-Exome Sequencing Data: Insights from a Clinical Diagnostic Setting
- Clinical Genetics and Therapeutics
Real-world Trofinetide Dosing for Rett Syndrome: The LOTUS Study
- Clinical Genetics and Therapeutics
Real-world Use of Trofinetide: A Survey of Dosing Strategies from US Rett Syndrome Centers of Excellence
- Clinical Genetics and Therapeutics
Real-world Use of Trofinetide: A Survey of Tolerability from US Rett syndrome Centers of Excellence
- Clinical Genetics and Therapeutics
Reanalysis of pediatric exome and genome sequencing identifies a high prevalence of actionable pharmacogenetic alleles in children
- Clinical Genetics and Therapeutics
Recurrent TRAPPC11 variant in South Dakota’s Hutterite Population
- Laboratory Genetics and Genomics
Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing
- Laboratory Genetics and Genomics
Recurrent De Novo Variant in ARPC4 Gene Associated with Neurodevelopmental Disorder: A Case Report
- Biochemical/Metabolic and Therapeutics
Reducing the False Positive for Guanidinoacetate Methyltransferase Enzyme Deficiency in Newborn by the Addition of a Second Tier UPLC-MS/MS Test
- Laboratory Genetics and Genomics
Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs. exome/genome sequencing as a first-tier test
- Laboratory Genetics and Genomics
Reflex RNA Sequencing for Enhanced Variant Classification on ES/GS Improves Patient Outcomes
- Laboratory Genetics and Genomics
Regions of Homozygosity on a Single Chromosome: Insights into Complex Diagnosis Caused by Imprinting Disorders, Recessive Disease, and Chromosomal Aberrations
- Clinical Genetics and Therapeutics
Registry and Gene Replacement Therapy for Spinal Muscular Atrophy at Referral Center of Pediatrics in Vietnam
- Clinical Genetics and Therapeutics
Research analysis of clinical exome sequence data to detect diabetes-related genetic variation
- Clinical Genetics and Therapeutics
Research re-analysis of raw genomic data leads to the first described inherited case of CLDN5 in two brothers
- Laboratory Genetics and Genomics
Resolution of newborn screening results via targeted long-read sequencing
- Biochemical/Metabolic and Therapeutics
Response to Ketone Therapy in an Unusual Case of Type 1 Multiple Acyl-CoA Dehydrogenase Deficiency
- Clinical Genetics and Therapeutics
Retrospective Characterization of Genetics Work-Up for Individuals with RASopathy Diagnosis
- Biochemical/Metabolic and Therapeutics
Retrospective Claims Analysis: Major Clinical Manifestations and Healthcare Resource Use Among Patients With Long-Chain Fatty Acid Oxidation Disorders Pre/Post-Triheptanoin Initiation
- Education and Research Strategies
Review of genomic education in the preclerkship at U.S medical school
- Clinical Genetics and Therapeutics
Risk Factors Correlating With MC4R Pathway Variants on Genetic Testing
- Health Services and Implementation
Risk Factors for Malignant Hyperthermia Crises and Subsequent Complications to Inform Model Development for Population Newborn Screening
- Laboratory Genetics and Genomics
RNA Analysis and Long Read Sequencing Identify Causative APC Complex Rearrangement in Unsolved FAP Case
- Clinical Genetics and Therapeutics
RNA and Reclassification: Assessing RNA Data in Rare Disease
- Cancer Genetics and Therapeutics
RNA-seq NGS to detect KMT2A partial tandem duplication in an AML patient with trisomy 11
- Laboratory Genetics and Genomics
Role of de novo variants in genetic disorders with new insights and clinical implications
- Cancer Genetics and Therapeutics
RUNX1::SLTM – a new fusion gene developed from t(15;21)(q22;q22) during accelerated phase in CML
- Biochemical/Metabolic and Therapeutics
Safety and Tolerability of Chenodeoxycholic Acid in Pediatric Patients With Cerebrotendinous Xanthomatosis (RESTORE): An Open-label Phase 3 Study
- Clinical Genetics and Therapeutics
Safety profile and adherence of vosoritide in young children with achondroplasia in Japan
- Clinical Genetics and Therapeutics
Safety, efficacy, and exposure-response of NNZ-2591, a synthetic analog of an IGF-1 metabolite, for Phelan-McDermid syndrome in children and adolescents
- Laboratory Genetics and Genomics
SATB2 Variants in Glass Syndrome: the Clinical Impact of Novel Variants in the context of Misleading Diagnoses.
- Biochemical/Metabolic and Therapeutics
SC4MOL Deficiency: 11^th Reported Patient with Updates in Treatment Outcomes and Review of Reported Cases
- Laboratory Genetics and Genomics
Scalable Classification of Rare Diseases Across Research Studies
- Clinical Genetics and Therapeutics
Scalable system-wide CYP2C19 pharmacogenomic testing reveals excess incidence of adverse events in metabolizers receiving inappropriate prescriptions
- Health Services and Implementation
Screening Newborns for Type 1 Diabetes Risk: The Early Check Experience
- Ethical Legal Social Issues (ELSI) Public Health and Policy
ScreenPlus Parental Attitudes on the Use of Residual Dried Blood Spots
- Prenatal Genetics
Seeking Answers, Getting Questions: Genome-wide Prenatal Cell-free DNA Screening in a Case of Multiple Congenital Anomalies
- Laboratory Genetics and Genomics
Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate
- Biochemical/Metabolic and Therapeutics
Sensorineural Hearing Loss in a Child with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Treated with Cochlear Implantation
- Laboratory Genetics and Genomics
Sequencing of a KLK15 gene variant in a large cohort of hypermobile Ehlers- Danlos syndrome patients
- Laboratory Genetics and Genomics
Shades of Grey in a Binary World: Clinician Preferences for Appearance of Uncertain Results in the Electronic Medical Record
- Clinical Genetics and Therapeutics
Short Stature and Partial Lipodystrophy along with Hypersomnolence and PCOS: Rarity and Phenotypic Expansion of SHORT Syndrome
- Cancer Genetics and Therapeutics
Should All Survivors Undergo Genetic Screening? – A Review of a Breast Cancer Survivorship Program in the Bronx, NY
- Clinical Genetics and Therapeutics
Significance of Near-Canonical Conserved Splice Region Nucleotides
- Biochemical/Metabolic and Therapeutics
Silent Risks: Sudden Cardiac Death in a Pediatric Patient with MELAS
- Prenatal Genetics
Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: first large-scale clinical validation study results
- Clinical Genetics and Therapeutics
Sleep in Angelman Syndrome: Data from the Natural History Study
- Clinical Genetics and Therapeutics
Smart Categories: LLM-Based Automatic Tagging of Categorical information in Genomic Articles Outperforms Manual Curators Yielding Improved Curation Efficiency
- Clinical Genetics and Therapeutics
Sociodemographic Factors Associated with Positive Genome Sequencing Results in Infants with Congenital Heart Disease
- Clinical Genetics and Therapeutics
Solving for PS4
- Cancer Genetics and Therapeutics
Spatial Transcriptomics Analysis and Differential Pseudotime Analysis of High-Grade Astrocytoma with Piloid Features
- Clinical Genetics and Therapeutics
Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotype
- Laboratory Genetics and Genomics
SRY Positive 46,XX: A Unique Family with Fertile Female Mother and Male Children Challenging the Dogma of Sex Determination
- Laboratory Genetics and Genomics
StarPhase: Leveraging Long-Read Sequencing to Update Pharmacogenomic Benchmarks
- Clinical Genetics and Therapeutics
Streamlining Drug Repurposing: Optimizing Candidate Prioritization and Evaluating Candidates in Polycystic Kidney Disease and SETBP1-Associated Disorders
- Clinical Genetics and Therapeutics
Studying the role of the DIP2C gene in humans and zebrafish
- Biochemical/Metabolic and Therapeutics
Subgroup Analysis by Phenoytpe in a Phase III, Randomized, Placebo-Controlled Crossover Trial with Levacetylleucine (IB1001) for Niemann-Pick Disease Type-C
- Laboratory Genetics and Genomics
Survey results reveal barriers and solutions to the use of functional data in variant interpretation
- Clinical Genetics and Therapeutics
Systematic Literature Review of GLA Variants Uncovers Additional Fabry Disease-Causing Variants
- Laboratory Genetics and Genomics
Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients.
- Clinical Genetics and Therapeutics
Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research
- Biochemical/Metabolic and Therapeutics
Targeting KV10.1 Channels in Breast Cancer: The Role of Ion Channel Genetics in In Silico Electrophysiological Mechanisms and Drug Discovery
- Laboratory Genetics and Genomics
Ten Years of Experience with an Iterative, Points-based Variant Classification Framework
Test Peer Review 2025
- Clinical Genetics and Therapeutics
Testing concordance of pathogenicity predictions from orthogonal machine learning algorithms and signal to noise analysis
- Laboratory Genetics and Genomics
Testing Indications and Diagnostic Yield of Clinical Exome Sequencing in a US Midwestern Patient Cohort
- Cancer Genetics and Therapeutics
Testing of t(4;14) in Multiple Myeloma: How to Do It
- Clinical Genetics and Therapeutics
Tetrasomy 9p in a patient affected with dilated cardiomyopathy: incidental finding or extended phenotype?
- Clinical Genetics and Therapeutics
The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel
- Biochemical/Metabolic and Therapeutics
The Assessment of the Treatment and Management Landscape of Phenylketonuria survey study: Findings from 19 clinics in the United States
- Clinical Genetics and Therapeutics
The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar
- Clinical Genetics and Therapeutics
The clinical spectrum of the Fetal Fentanyl Syndrome in 23 cases
- Laboratory Genetics and Genomics
The clinical utility of genome sequencing in the molecular diagnosis of genes related to inborn errors of metabolism
- Clinical Genetics and Therapeutics
The Clinical Utility of Next-Generation Sequencing (NGS)-Based Genetic Testing in Pediatric Polycystic Kidney Disease
- Laboratory Genetics and Genomics
The collection and use of patient sex, gender, race, ethnicity, and ancestry data among US-based clinical genomics laboratories
- Cancer Genetics and Therapeutics
The Effect of Patient Uncertainty in Family History on Genetic Testing Recommendations for Hereditary Cancer Syndromes
- Laboratory Genetics and Genomics
The Evolving Genetic Landscape of Phelan-McDermid Syndrome and Implications for Diagnostics
- Cancer Genetics and Therapeutics
The Expression Profile of SLC22A1 genes in Hepatocellular Carcinoma and Its Association with Clinical Outcomes
- Cancer Genetics and Therapeutics
The Expression Profile of SLC22A6 and SLC22A8 genes in Kidney Renal clear Cell Carcinoma and Their Association with Clinical Outcomes
- Clinical Genetics and Therapeutics
The eXtraordinarY Babies Study: Evolving Parental Perspectives and Priorities While Raising a Child Prenatally Diagnosed with Sex Chromosome Trisomy
- Clinical Genetics and Therapeutics
The eXtraordinarY Baby Study: Natural History of Infants Identified with XXYY in the Prenatal Period
- Education and Research Strategies
The First Online Genetic Assistant Training Program: Curriculum, Student Demographics and Outcomes
- Health Services and Implementation
The Genetic Testing USAGE (Utility Survey in an Adult Genetics Environment) Study
- Health Services and Implementation
The Genetics Update: Protocol for a Mixed Methods Randomized Controlled Trial Evaluating a Digital Platform to Deliver Updated Genomic Results
- Health Services and Implementation
The Health Economics of Lynch Syndrome Screening in Colorectal Cancer: When Genetic Testing is Cost-saving in a Middle-Income Country
- Ethical Legal Social Issues (ELSI) Public Health and Policy
The impact of consanguinity on birth outcomes: implications for healthcare and genetic counseling practices in the United States
- Cancer Genetics and Therapeutics
The Impact of Discrepant Payor Policies from One Lab Benefits Manager on Patient Access to Genetic Testing
- Laboratory Genetics and Genomics
The Impact of Gene-Specific Guidelines on Variant Reassessment: Perspectives from a Hereditary Cancer Clinic
- Ethical Legal Social Issues (ELSI) Public Health and Policy
The Impact of Patient Race and Polygenic Risk Scores on Genetic Counselors' Risk Assessment and Management in Breast Cancer Vignettes
- Clinical Genetics and Therapeutics
The Importance of Karyotyping in an Age of Sequencing: A Rare Cause of Campomelic Dysplasia
- Health Services and Implementation
The Initial Four-Year Experience of an Adult Genomic Health Clinic (GHC)
- Biochemical/Metabolic and Therapeutics
The Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Disease Monitoring Program: An Evaluation of Initial Findings
- Ethical Legal Social Issues (ELSI) Public Health and Policy
The Perception of Disability in Prenatal Genetic Screening and Counseling: An Ethical Analysis of Current Practice
- Laboratory Genetics and Genomics
The Phenotypic Effects of Loss-of-Function Variants in WDR45
- Laboratory Genetics and Genomics
The power of multi-omics in confirming the pathogenicity of a DDX11 variant causing Warsaw syndrome
- Clinical Genetics and Therapeutics
The Role of Large Language Models in Medical Genetics
- Laboratory Genetics and Genomics
The role of PACS2 and pacs2 in ocular development
- Prenatal Genetics
The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis
- Biochemical/Metabolic and Therapeutics
The unexpected and novel mitochondrial phenotype of the ex vivo patient-derived cellular model for SYNGAP1 encephalopathy.
- Prenatal Genetics
The use of postpartum long-acting reversible contraceptives among women with genetic conditions
- Laboratory Genetics and Genomics
The utility of runs of homozygosity in the identification of pathogenic variants in individuals with rare diseases
- Clinical Genetics and Therapeutics
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: a systematic review and meta-analysis
- Clinical Genetics and Therapeutics
Thirty-Year Odyssey to Dual Diagnoses: Value of Longitudinal Genetics Follow-Up
- Biochemical/Metabolic and Therapeutics
Three Year Safety Experience in Children Treated with Govorestat for Classic Galactosemia
- Biochemical/Metabolic and Therapeutics
Title: Outcomes of Liver Transplantation in Glycogen Storage Disease Type Ib
- Biochemical/Metabolic and Therapeutics
TMEM70 Deficiency: Neurodevelopment, Natural History, and Emerging Symptoms from Neonate to Childhood
- Clinical Genetics and Therapeutics
Transformative Care Through Genome Sequencing: Insights from the First 100 Patients in the CincyKidsSeq Study
- Biochemical/Metabolic and Therapeutics
Treatment of BOLA3-Associated Multiple Mitochondrial Dysfunctions Syndrome 2 with a Mitochondrial Cocktail
- Biochemical/Metabolic and Therapeutics
TRIT1-associated combined oxidative phosphorylation deficiency-35: Two cases from opposite ends of the epilepsy spectrum
- Clinical Genetics and Therapeutics
Truncating Variants in APOB Are Not VUS When Screening for Familial Hypercholesterolemia
- Clinical Genetics and Therapeutics
TWIST related disorders in two Mongolian adolescents: case reports and review of the literature
- Clinical Genetics and Therapeutics
Two Copies, One Condition? Understanding APOE Allele State in over 14,000 Symptomatic Patients
- Biochemical/Metabolic and Therapeutics
Two de novo intronic mutations of GLS gene leading to Glutaminase Deficiency/ Autosomal Recessive Developmental and Epileptic Encephalopathy 71 (AR-DEE71)
- Clinical Genetics and Therapeutics
UGT1A4*3 ultrarapid metabolizer genotype: A case report
- Laboratory Genetics and Genomics
Unbalanced three-way translocation identified in a patient with developmental delay using chromosomal microarray analysis and karyotyping
- Laboratory Genetics and Genomics
Uncovering Disease-Associated SVA Insertions Missed by Routine Clinical Testing
- Laboratory Genetics and Genomics
Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts
- Laboratory Genetics and Genomics
UNDERSTANDING PRENATAL CHROMOSOMAL ABNORMALITIES; IMPORTANCE OF BOTH CHROMOSOMAL AND MICROARRAY ABERRATIONS
- Clinical Genetics and Therapeutics
Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene
- Clinical Genetics and Therapeutics
Undiganosed rare genetic diseases when managing neuropsychiatric symptoms: A systematic review of case literature
- Laboratory Genetics and Genomics
Uniparental Isodisomy of Chromosome 8 in a One-Year-Old Boy: A Rare Case Report
- Clinical Genetics and Therapeutics
Unique Case of Mosaic 8q21.1-q24.3 deletion and duplications Linked to Langer-Giedion and Cornelia de Lange Syndromes Presenting with Recurrent Fractures
- Laboratory Genetics and Genomics
Unique Case Report of Very Low Mosaic Down Syndrome as case referred as a case of Recurrant Pregnancy Loss
- Health Services and Implementation
Unique outcomes from curated genome sequencing for newborn screening: Challenging results from the Early Check project
- Clinical Genetics and Therapeutics
Unmasking Turner Syndrome in a Patient with Long QT Syndrome: A Case Report and Review of Clinical Implications
- Clinical Genetics and Therapeutics
Unpacking Genotype-Phenotype Correlation in DNM1 Encephalopathy: Two unusually mild cases with variants in the GTPase and proline-rich domains
- Laboratory Genetics and Genomics
Unraveling a Novel DMP1 Variant: Expanding Diagnostic Horizons in Hypophosphatemic Osteomalacia
- Biochemical/Metabolic and Therapeutics
Untargeted proteomics greatly aides the functional diagnosis of mitochondrial aminoacyl-tRNA synthetases (ARS2s)
- Laboratory Genetics and Genomics
Unveiling a Dual Diagnosis: The Role of Exome Reanalysis in Evolving Pediatric Phenotypes
- Biochemical/Metabolic and Therapeutics
Unveiling Psychopathology in Congenital Disorders of Glycosylation: A Comprehensive Study Using Patient Records, Questionnaires, and Literature Review.
- Clinical Genetics and Therapeutics
Unveiling the Multifaceted Role of Desmin: From Nuclear Localization to Transcript Fate in Skeletal Muscle Cells
- Biochemical/Metabolic and Therapeutics
Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia
- Clinical Genetics and Therapeutics
Updating Gene-Disease Classifications and Inheritance Patterns for Porphyric Disease Entities to Improve Diagnostic Accuracy and Patient Management
- Prenatal Genetics
Uptake and Impact of Genetic and Genomic Testing and Clinical Evaluation Following a Perinatal Demise in an Academic Center
- Prenatal Genetics
Use of Aspirin Prophylaxis in Pregnant Patients with Genetic Conditions
- Prenatal Genetics
Use of cell-free DNA for prenatal diagnosis of single gene disorders: experience of a single tertiary care center
- Biochemical/Metabolic and Therapeutics
Use of Cholic Acid in Smith-Lemli-Opitz Syndrome (SLOS): Real-World Patient Outcomes
- Health Services and Implementation
Use of Exome Sequencing as a First-Line Test in a Reference Center for Rare Diseases in Northeastern Brazil.
- Biochemical/Metabolic and Therapeutics
Use of ketogenic diet in MOGS-CDG: a case study
- Laboratory Genetics and Genomics
Use of Polygenic Risk Scores to Assess the Contribution of Common Genetic Variation in Primary Immunodeficiency Disorders
- Biochemical/Metabolic and Therapeutics
Use of Tadalafil in MEGDEL Syndrome
- Laboratory Genetics and Genomics
Using Functional Data for VUS Reclassification in Cancer Predisposition Genes
- Laboratory Genetics and Genomics
Using the single-cell transcriptome to facilitate molecular diagnosis of retinal dystrophy -- a case report
- Education and Research Strategies
Utilization of a REDCap GeneResultTool for Returning HFE Pathogenic Results
- Clinical Genetics and Therapeutics
Utilization of pharmacogenomics in a child and adolescent autism spectrum disorder depression and anxiety program: A retrospective study
- Clinical Genetics and Therapeutics
Utilization of predictive modeling to maximize benefits of genetic testing for patients with chronic kidney disease
- Education and Research Strategies
Utilizing long-read sequencing technologies to enable discovery of disease genes associated with complex neurological phenotypes
- Prenatal Genetics
Utilizing MyCode and population-based genomics screening to detect genetic variants for cardiovascular disease in women of reproductive age
- Clinical Genetics and Therapeutics
Validating array genotype data in the Million Veteran Program (MVP) for actionable, clinically significant rare variants
- Laboratory Genetics and Genomics
Validating Fetal RNA Sequencing to Improve Classification of Splicing Variants in Prenatal Diagnosis
- Laboratory Genetics and Genomics
Validation and Implementation of Emedgene Variant Interpretation and Reporting Software for Clinical Genomic Testing
- Biochemical/Metabolic and Therapeutics
Validation of a Multiplex LC-MS/MS Assay for Newborn Screening for MPS II, IVA, VI, and VII in Dried Blood Spots
- Laboratory Genetics and Genomics
Vanishing copy number gains: causative chromosomal changes or unstable findings of unknown consequence?
- Prenatal Genetics
Variability of Phenotypic and Prenatal Ultrasound Findings of Muenke Syndrome: a Case Report
- Clinical Genetics and Therapeutics
Variant classification is negatively impacted by the absence of biochemical data in published patient reports
- Biochemical/Metabolic and Therapeutics
Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel
- Laboratory Genetics and Genomics
Variant Interpretation of High-Penetrance Breast Cancer Genes in Underrepresented Populations: A Review of ACMG Guideline Adherence and Hypothetical Data
- Laboratory Genetics and Genomics
VariantMatcher and the variant-level matching network to facilitate variant classification and disease gene discovery.
- Clinical Genetics and Therapeutics
Variants in RPAP3 are associated with Normal-Pressure Glaucoma
- Education and Research Strategies
VEPerform: A Web Resource for Evaluating the Performance of Variant Effect Predictors
- Prenatal Genetics
Verification of a Software and Amplification-Based Nanopore Sequencing Solution to Characterize Complex Variants in 11 Challenging, High-Frequency Carrier Genes
- Cancer Genetics and Therapeutics
Very Low Penetrance of Loss-of-function Variants in PMS2 for All Lynch Syndrome Relevant Cancers In Large US Biobanks
- Laboratory Genetics and Genomics
What are you missing? A review of the utility of characterization studies as part of chromosomal microarray analysis
- Health Services and Implementation
What Comes Next?: Follow Through Care for Infants with Rare Genetic Conditions
- Prenatal Genetics
Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening
- Laboratory Genetics and Genomics
Whole genome sequencing of 55 exome negative trios identifies putative rare pathogenic noncoding variants in infants with congenital anomalies

JW Marriott Los Angeles LA LIVE Olympic III | 8:00 AM - 4:00 PM
ACMG Board of Directors Meeting (Closed Meeting)
Los Angeles Convention Centre 508 | 8:00 AM - 6:00 PM
ACMG Office
Los Angeles Convention Centre 507 | 8:00 AM - 7:30 PM
Speaker Check-In and Ready Room

- Laboratory Genetics and Genomics
Los Angeles Convention Centre 409 AB | 10:00 AM - 1:00 PM
Genomic Explorations: A Journey Through Cytogenetics

Los Angeles Convention Centre 519 | 12:00 PM - 7:00 PM
Lactation Room
Los Angeles Convention Centre 516 | 12:00 PM - 7:00 PM
Prayer and Meditation Room
Los Angeles Convention Centre 509 A | 12:00 PM - 5:00 PM
Press Room
Los Angeles Convention Centre 517 | 12:00 PM - 7:00 PM
Quiet Room
Los Angeles Convention Centre West Lobby | 12:00 PM - 7:00 PM
Registration Open

- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 403 B | 1:30 PM - 3:30 PM
Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine
- Health Services and Implementation
Los Angeles Convention Centre 408 A | 1:30 PM - 3:30 PM
Cultivating the Genetic Workforce: The Pipeline Approach
- ELSI Public Health and Policy
Los Angeles Convention Centre 408 B | 1:30 PM - 3:30 PM
Rare Disease Advisory Councils – State Advocacy for the Rare Disease Community

- Laboratory Genetics and Genomics
Los Angeles Convention Centre 409 AB | 2:00 PM - 5:00 PM
Genomic Explorations: A Journey Through Molecular Genetics

Los Angeles Convention Centre 403 A | 3:30 PM - 4:00 PM
Moderator / Co-Moderator Orientation 1

Los Angeles Convention Centre 403 B | 4:00 PM - 6:00 PM
Adult Genetics SIG Forum
JW Marriott Los Angeles LA LIVE Gold Ballroom 2 | 4:00 PM - 5:30 PM
Bridging Neurology and Genetics in Mitochondrial Disease: A TK2d Case Study
(This activity is supported by UCB)
JW Marriott Los Angeles LA LIVE Gold Ballroom 1 | 4:00 PM - 5:30 PM
Challenging No More: Simultaneously Tackling CMRGs and Methylation
(This activity is supported by Oxford Nanopore Technologies Inc)
JW Marriott Los Angeles LA LIVE Gold Ballroom 4 | 4:00 PM - 5:30 PM
Clinical Diagnosis of a Genetic Disease - What's Unseen?
(This activity is supported by Rhythm Pharmaceuticals, Inc)
JW Marriott Los Angeles LA LIVE Gold Ballroom 3 | 4:00 PM - 5:30 PM
Navigating Generalized Arterial Calcification of Infancy: Prenatal and Postnatal Diagnosis
(This activity is supported by Inozyme)
Los Angeles Convention Centre 408 A | 4:00 PM - 6:00 PM
Public Health SIG Forum

JW Marriott Los Angeles LA LIVE Olympic III | 5:00 PM - 6:30 PM
ACMG Committee Chairs (Closed Meeting)
Los Angeles Convention Centre 408 B | 5:00 PM - 6:00 PM
Medical Directors SIG Forum

JW Marriott Los Angeles LA LIVE Atrium III | 6:00 PM - 9:00 PM
AAP Council on Genetics Executive Committee Meeting (Ancillary)
JW Marriott Los Angeles LA LIVE Plaza I-III | 6:00 PM - 7:30 PM
Fellow/Residents/Trainees/Student Reception

JW Marriott Los Angeles LA LIVE Gold Ballroom 2 | 6:15 PM - 7:45 PM
Advancements in Rett Syndrome (RTT) Care: Caregiver and Expert Panel Discussion
(This activity is supported by Acadia Pharmaceuticals Inc)
JW Marriott Los Angeles LA LIVE Gold Ballroom 3 | 6:15 PM - 7:45 PM
Newborn Screening for Metachromatic Leukodystrophy: Clinical Implementation and Ethical Considerations
(This activity is supported by Orchard Therapeutics North America)
JW Marriott Los Angeles LA LIVE Gold Ballroom 4 | 6:15 PM - 7:45 PM
Perspectives from HCPs and a patient - Discovering a Treatment Approach for Certain Adults with Late-Onset Pompe Disease
(This activity is supported by Amicus Therapeutics)
JW Marriott Los Angeles LA LIVE Gold Ballroom 1 | 6:15 PM - 7:45 PM
PKU and Blood Phe: How Low is Low Enough?
(This activity is supported by BioMarin Pharmaceutical, Inc)

JW Marriott Los Angeles LA LIVE Georgia I | 7:15 PM - 10:00 PM
Lab QA Biochemical Genetics Subcommittee (Closed Meeting)
JW Marriott Los Angeles LA LIVE Georgia II | 7:15 PM - 10:00 PM
Lab QA Cytogenetics Subcommittee (Closed Meeting)
JW Marriott Los Angeles LA LIVE Atrium I | 7:15 PM - 10:00 PM
Lab QA Molecular Genetics Subcommittee (Closed Meeting)

7:30 PM - 9:00 PM
ACMG Program Committee Dinner (by invitation only)

Los Angeles Convention Centre 508 | 6:30 AM - 6:00 PM
ACMG Office
Los Angeles Convention Centre West Lobby | 6:30 AM - 6:00 PM
Registration Open
Los Angeles Convention Centre 507 | 6:30 AM - 5:00 PM
Speaker Check-In and Ready Room

Los Angeles Convention Centre 504 | 7:00 AM - 8:30 AM
ACMG Lab QA Full Committee Meeting
Los Angeles Convention Centre 510 | 7:00 AM - 8:00 AM
ACMG Program, Education, CCP, Chairs Meeting (Closed Meeting)

Los Angeles Convention Centre 506 | 7:30 AM - 9:30 AM
ACMG Advocacy and Government Affairs Committee

JW Marriott Los Angeles LA LIVE Gold Ballroom 1 | 8:00 AM - 9:30 AM
A Deeper Look into Achondroplasia
(This activity is supported by BioMarin Pharmaceutical, Inc)
Los Angeles Convention Centre 505 | 8:00 AM - 9:30 AM
ACMG International Outreach and Engagement Committee
- Research Methods & Resources
Los Angeles Convention Centre 501 ABC | 8:00 AM - 9:30 AM
Early Genetics Trainee and Faculty Forum - Clinical Genetics - Where Are We Headed?
JW Marriott Los Angeles LA LIVE Gold Ballroom 4 | 8:00 AM - 9:30 AM
GSD1a From Today to Tomorrow: Navigating Today's Challenges & Looking Ahead into the Gene Therapy Pipeline
(This activity is supported by Ultragenyx)
Los Angeles Convention Centre 519 | 8:00 AM - 7:00 PM
Lactation Room
Los Angeles Convention Centre 403 A | 8:00 AM - 8:30 AM
Moderator / Co-Moderator Orientation 2
JW Marriott Los Angeles LA LIVE Gold Ballroom 3 | 8:00 AM - 9:30 AM
Navigating CTX and SLOS: From Clinical Clues to Tailored Therapies
(This activity is supported by Mirum Pharmaceuticals)
Los Angeles Convention Centre 516 | 8:00 AM - 7:00 PM
Prayer and Meditation Room
Los Angeles Convention Centre 517 | 8:00 AM - 6:00 PM
Quiet Room
JW Marriott Los Angeles LA LIVE Gold Ballroom 2 | 8:00 AM - 9:30 AM
The Integral Role of Genetic Clinicians: Exploring Diagnosis and Management of Neuromuscular Diseases
(This activity is supported by Sarepta Therapeutics, Inc)

Los Angeles Convention Centre 513 | 8:30 AM - 9:30 AM
ACMG Secondary Findings Maintenance Workgroup

- Health Services and Implementation
Los Angeles Convention Centre West Exhibit Hall B | 10:00 AM - 12:00 PM
2025 ACMG Foundation Awards and Presidential Plenary Session- Genetics in the Media – Entertainment, Public Education, Controversies and Ethical Dilemmas

Los Angeles Convention Centre 510 | 12:00 PM - 1:15 PM
ACMG Economics of Genetics Services Committee
Los Angeles Convention Centre 506 | 12:00 PM - 1:15 PM
ACMG Professional Practice and Guidelines Committee
Los Angeles Convention Centre 513 | 12:00 PM - 1:15 PM
ACMG Workforce Development and Optimization Committee
Los Angeles Convention Centre 514 | 12:00 PM - 1:15 PM
ClinGen Actionability Working Groups Meeting
Los Angeles Convention Centre 504 | 12:00 PM - 1:30 PM
Education and Professional Development Committee
Los Angeles Convention Centre 509 A | 12:00 PM - 5:00 PM
Press Room

Los Angeles Convention Centre 511 BC | 12:15 PM - 1:15 PM
AAP Council on Genetics Annual Business Meeting and Lunch (Ancillary)
Los Angeles Convention Centre 403 B | 12:15 PM - 1:15 PM
ACMG Foundation Corporate Partner Insights Session - Illumina Inc: Getting the Most Out of Your Genome
Los Angeles Convention Centre 403 A | 12:15 PM - 1:15 PM
ACMG Foundation Corporate Partner Insights Session - MyOme: Unlocking Genomics: Advancing Rare Disease Diagnostics
Los Angeles Convention Centre 408 A | 12:15 PM - 1:15 PM
ACMG Foundation Corporate Partner Insights Session - Natera: Precision Medicine across Oncology, Renal Genetics and Reproductive Health
Los Angeles Convention Centre 408 B | 12:15 PM - 1:15 PM
ACMG Foundation Corporate Partner Insights Session - PTC Therapeutics Inc: Unlocking Potential: Innovative Advances in PKU Treatment
- Cancer Genetics and Therapeutics
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre West Exhibit Hall B | 12:15 PM - 1:15 PM
Platform Session A (non-accredited)

- Laboratory Genetics and Genomics
Los Angeles Convention Centre Petree Hall C | 1:30 PM - 3:00 PM
Evolution of Cytogenomic Technology: Real-World Applications of Optical Genome Mapping in the Laboratory
- Health Services and Implementation
Los Angeles Convention Centre 501 ABC | 1:30 PM - 3:00 PM
Genetics in Some Arabic Countries: A Journey of Discoveries, Advances, and Struggles
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre Petree Hall D | 1:30 PM - 3:00 PM
Looking Ahead: Advances in Ophthalmic Genetics
- Biochemical/Metabolic and Therapeutics
Los Angeles Convention Centre 502 AB | 1:30 PM - 3:00 PM
Perspectives on Off-Label Use of Therapeutics in Rare Diseases
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 515 AB | 1:30 PM - 3:00 PM
The Future of Genetics in Reproductive Medicine: Filling in the Gaps Beyond Aneuploidy and Carrier Screening

Los Angeles Convention Centre West Hall Foyer | 3:00 PM - 3:30 PM
Refreshment Break

- Clinical Genetics and Therapeutics
Los Angeles Convention Centre Petree Hall C | 3:30 PM - 5:00 PM
Diagnostic Dilemmas from the Undiagnosed Diseases Network
- ELSI Public Health and Policy
Los Angeles Convention Centre Petree Hall D | 3:30 PM - 5:00 PM
Navigating the Current Landscape in Prenatal Genetics – Coverage, Politics and Laboratory Practice
- Cancer Genetics and Therapeutics
Los Angeles Convention Centre 502 AB | 3:30 PM - 5:00 PM
Shifting the Paradigm to Consider Inherited Cancer Risks on a Continuum Rather than Binary

Los Angeles Convention Centre West Exhibit Hall A | 5:00 PM - 7:00 PM
Opening Reception and Exhibits

Los Angeles Convention Centre Learning Lounge | 6:00 PM - 6:30 PM
GENEius Challenge Semi-Final Round 1

JW Marriott Los Angeles LA LIVE Atrium III | 7:30 PM - 9:00 PM
GIM Editorial Board Meeting

Los Angeles Convention Centre 508 | 7:00 AM - 6:00 PM
ACMG Office
Los Angeles Convention Centre 519 | 7:00 AM - 6:00 PM
Lactation Room
Los Angeles Convention Centre 516 | 7:00 AM - 6:00 PM
Prayer and Meditation Room
Los Angeles Convention Centre 509 A | 7:00 AM - 6:00 PM
Press Room
Los Angeles Convention Centre 517 | 7:00 AM - 6:00 PM
Quiet Room
Los Angeles Convention Centre 507 | 7:00 AM - 6:00 PM
Speaker Check-In and Ready Room

Los Angeles Convention Centre West Lobby | 7:30 AM - 6:00 PM
Registration Open

- Clinical Genetics and Therapeutics
Los Angeles Convention Centre West Exhibit Hall B | 8:00 AM - 9:00 AM
Featured Platform Presentations

- ELSI Public Health and Policy
- Health Services and Implementation
Los Angeles Convention Centre West Exhibit Hall B | 9:00 AM - 10:00 AM
Ted-Style Talks: Ethical Considerations in Genetics: Balancing Medical Care and Patient Needs in a Culturally Sensitive Way

Los Angeles Convention Centre West Exhibit Hall A | 10:00 AM - 10:30 AM
Refreshment Break

Los Angeles Convention Centre West Exhibit Hall A | 10:15 AM - 11:30 AM
Speed Mentoring

Los Angeles Convention Centre Learning Lounge | 10:30 AM - 11:00 AM
Cracking the Codes: How CPT codes and RVUs Affect Reimbursement and Credit for the Work You Do
Los Angeles Convention Centre West Exhibit Hall A | 10:30 AM - 11:30 AM
Poster Presentations Odd Numbers

Los Angeles Convention Centre Exhibit Theater 1 | 10:45 AM - 11:15 AM
The Future of Clinical Diagnostics: Leveraging AI and Empirical Genomics Evidence for Precision Medicine
Los Angeles Convention Centre Exhibit Theater 2 | 10:45 AM - 11:15 AM
Using the Applied Biosystems™ CytoScan™ HD Accel - Duke's Experience and Case Study Review

Los Angeles Convention Centre 506 | 11:00 AM - 1:00 PM
ACMG Ethical, Legal and Social Issues Committee
JW Marriott Los Angeles LA LIVE Atrium I | 11:00 AM - 1:00 PM
ACMG Foundation Board of Directors Meeting (Closed Meeting)
Los Angeles Convention Centre 512 | 11:00 AM - 1:00 PM
ACMG Therapeutics Committee
Los Angeles Convention Centre 504 | 11:00 AM - 12:00 PM
ClinGen Metabolism Workgroup
Los Angeles Convention Centre West Exhibit Hall A | 11:00 AM - 1:00 PM
Food Truck Concession Lunch

Los Angeles Convention Centre Learning Lounge | 11:15 AM - 11:45 AM
The PEARL Trial: PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders

Los Angeles Convention Centre Exhibit Theater 1 | 11:20 AM - 11:50 AM
Revolutionizing Complex Variant Characterization: A Nanopore Sequencing Based Single Workflow Kit For 11 Hard to Decipher Carrier Screening Associated Genes
Los Angeles Convention Centre Exhibit Theater 2 | 11:20 AM - 11:50 AM
Smith-Limli-Opitz Syndrome (SLOS): Overview and Treatment Options

Los Angeles Convention Centre 504 | 11:30 AM - 1:00 PM
ACMG Continuing Certification Program Committee Meeting

Los Angeles Convention Centre 408 AB | 11:45 AM - 1:00 PM
Early Career Genetic Mentor Luncheon

Los Angeles Convention Centre Exhibit Theater 2 | 11:55 AM - 12:25 PM
Excavator: Removing the Noise in Exome Analysis Using Machine Learning
Los Angeles Convention Centre Exhibit Theater 1 | 11:55 AM - 12:25 PM
Maximizing the Diagnostic Impact of Exome Sequencing – A Case Series Review

Los Angeles Convention Centre 513 | 12:00 PM - 1:00 PM
GIM OPEN Editorial Board Meeting
- Laboratory Genetics and Genomics
- Prenatal Genetics
Los Angeles Convention Centre Petree Hall C | 12:00 PM - 1:00 PM
Platform Session B (non-accredited)
- Clinical Genetics and Therapeutics
- Laboratory Genetics and Genomics
Los Angeles Convention Centre Petree Hall D | 12:00 PM - 1:00 PM
Platform Session C (non-accredited)
Los Angeles Convention Centre Learning Lounge | 12:00 PM - 12:30 PM
Rapid Fire Poster Session

Los Angeles Convention Centre Exhibit Theater 1 | 12:30 PM - 1:00 PM
Third Generation Sequencing: Clinical Cases Solved Using Short and Long Read Genome Sequencing
Los Angeles Convention Centre Exhibit Theater 2 | 12:30 PM - 1:00 PM
Why AI Matters in Today's Clinical Genomics: Accelerating Testing with Fabric GEM, a Cutting-Edge and Clinically Proven AI Tool

Los Angeles Convention Centre Learning Lounge | 12:45 PM - 1:15 PM
LDT and Other Updates

- Biochemical/Metabolic and Therapeutics
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre Petree Hall C | 1:30 PM - 3:00 PM
Platform Session 1: Clinical and Biochemical Genetics and Therapeutics
- Clinical Genetics and Therapeutics
- Laboratory Genetics and Genomics
Los Angeles Convention Centre Petree Hall D | 1:30 PM - 3:00 PM
Platform Session 2: Clinical Genetics and Therapeutics
- Cancer Genetics and Therapeutics
Los Angeles Convention Centre 502 AB | 1:30 PM - 3:00 PM
Platform Session 3: Cancer Genetics and Therapeutics
- Clinical Genetics and Therapeutics
- Health Services and Implementation
- Prenatal Genetics
Los Angeles Convention Centre 501 ABC | 1:30 PM - 3:00 PM
Platform Session 4: Prenatal and Newborn Genetics
- Laboratory Genetics and Genomics
Los Angeles Convention Centre 515 AB | 1:30 PM - 3:30 PM
The ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification

Los Angeles Convention Centre West Exhibit Hall A | 3:00 PM - 3:45 PM
Refreshment Break

Los Angeles Convention Centre Learning Lounge | 3:15 PM - 3:45 PM
GENEius Challenge Semi-Final Round 2

- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 502 AB | 4:00 PM - 5:00 PM
Cardinal Signs
- Laboratory Genetics and Genomics
Los Angeles Convention Centre Petree Hall D | 4:00 PM - 5:00 PM
Challenges in Variant Science: Experiences from the Perspective of the Variant Scientist
Los Angeles Convention Centre 501 ABC | 4:00 PM - 6:00 PM
Corporate Partner Roundtable Meeting (by invitation only)
- Prenatal Genetics
Los Angeles Convention Centre Petree Hall C | 4:00 PM - 5:00 PM
Leveraging Digital Technology to Advance Patient Care in Prenatal Genetics
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 515 AB | 4:00 PM - 5:00 PM
Real-World Outcomes of Emerging Therapeutics: What's Happening After the Accelerated FDA Approval?

- Cancer Genetics and Therapeutics
Los Angeles Convention Centre Petree Hall C | 5:10 PM - 6:10 PM
Advances in Genetic Predisposition to Childhood Leukemia
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 502 AB | 5:10 PM - 6:10 PM
Emerging Therapeutics: Known and Expected Challenges of this New Era
- Biochemical/Metabolic and Therapeutics
Los Angeles Convention Centre 515 AB | 5:10 PM - 6:10 PM
Fetal Fentanyl Syndrome - A Teratogen Induced Embryopathy Masquerading as a Metabolic Disease
- Health Services and Implementation
Los Angeles Convention Centre Petree Hall D | 5:10 PM - 6:10 PM
Identifying Common Issues and Solutions for Clinical Genetics Centers: Discussions in the Medical Director's SIG

Los Angeles Convention Centre 501 ABC | 6:15 PM - 7:00 PM
ACMG Membership Business Meeting

JW Marriott Los Angeles LA LIVE The Mixing Room | 7:30 PM - 9:00 PM
ACMG Foundation VIP Donor Recognition Reception

Los Angeles Convention Centre 508 | 7:00 AM - 6:00 PM
ACMG Office
Los Angeles Convention Centre 519 | 7:00 AM - 6:00 PM
Lactation Room
Los Angeles Convention Centre 516 | 7:00 AM - 6:00 PM
Prayer and Meditation Room
Los Angeles Convention Centre 509 A | 7:00 AM - 6:00 PM
Press Room
Los Angeles Convention Centre 517 | 7:00 AM - 6:00 PM
Quiet Room
Los Angeles Convention Centre 507 | 7:00 AM - 6:00 PM
Speaker Check-In and Ready Room

Los Angeles Convention Centre West Lobby | 7:30 AM - 6:00 PM
Registration Open

- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 502 AB | 8:00 AM - 9:30 AM
New Advancements and Trends in Cardiogenomics
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre Petree Hall D | 8:00 AM - 9:30 AM
The Future for Monogenic Neurodevelopmental Disorders: Lessons from Angelman Syndrome and Brain Plasticity
- ELSI Public Health and Policy
Los Angeles Convention Centre 515 AB | 8:00 AM - 9:30 AM
Use of Sex and Gender Identifiers in Clinical and Laboratory Genetics and Genomics (An ELSI and DEI Co-sponsored Session)

Los Angeles Convention Centre West Exhibit Hall A | 9:30 AM - 10:00 AM
Refreshment Break

Los Angeles Convention Centre West Exhibit Hall A | 10:00 AM - 10:30 AM
Day of Caring Bike Presentation

Los Angeles Convention Centre Learning Lounge | 10:30 AM - 11:00 AM
How To Get Your Content Published
Los Angeles Convention Centre West Exhibit Hall A | 10:30 AM - 11:30 AM
Poster Presentations Even Numbers
Los Angeles Convention Centre West Exhibit Hall A | 10:30 AM - 11:45 AM
Speed Mentoring

Los Angeles Convention Centre Exhibit Theater 2 | 10:45 AM - 11:15 AM
FDA Approves First Treatment for Niemann-Pick Disease, Type C (NPC)
Los Angeles Convention Centre Exhibit Theater 1 | 10:45 AM - 11:15 AM
Genomics Unleashed: Informatics Integration at the Heart of Healthcare

Los Angeles Convention Centre West Exhibit Hall A | 11:00 AM - 1:00 PM
Food Truck Concession Lunch

Los Angeles Convention Centre Learning Lounge | 11:15 AM - 11:45 AM
ABMGG Continuing Certification Program - Mini-Review and What's New!

Los Angeles Convention Centre Exhibit Theater 2 | 11:20 AM - 11:50 AM
Streamlining Genomic Complexity with SOPHiA DDM™ and Alamut™ Visual Plus
Los Angeles Convention Centre Exhibit Theater 1 | 11:20 AM - 11:50 AM
Using a Genomics Copilot for Implementing Universal Hereditary Cancer Testing

JW Marriott Los Angeles LA LIVE Atrium I | 11:30 AM - 1:00 PM
ACMG Board of Directors - Meeting 2 (Closed Meeting)
Los Angeles Convention Centre 505 | 11:30 AM - 1:00 PM
ACMG/AAP Workgroup on Ethics of Pediatrics Genetics Testing

Los Angeles Convention Centre Exhibit Theater 2 | 11:55 AM - 12:25 PM
The Future of Genomic Testing: How Pacbio is Transforming the Clinical Testing Laboratory
Los Angeles Convention Centre Exhibit Theater 1 | 11:55 AM - 12:25 PM
Understanding the Diagnosis and Management in Patients with X-Linked Hypophosphatemia

Los Angeles Convention Centre Learning Lounge | 12:00 PM - 12:30 PM
GENEius Challenge Semi-Final Round 3

Los Angeles Convention Centre Exhibit Theater 2 | 12:30 PM - 1:00 PM
Constellation: The Next Generation of Whole Genome Sequencing (WGS)
Los Angeles Convention Centre Exhibit Theater 1 | 12:30 PM - 1:00 PM
Insights into the Unmet Needs in MPS II

Los Angeles Convention Centre 408 AB | 1:30 PM - 3:00 PM
2025 Student Workshop: Pathways to Careers within Medical Genetics and Genomics
- Prenatal Genetics
Los Angeles Convention Centre West Exhibit Hall B | 1:30 PM - 3:00 PM
Current Debates in Reproductive Genetics: CNV Reporting in Cell Free Fetal DNA Screening and Genome Sequencing for All
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 515 AB | 1:30 PM - 3:00 PM
N of 1 ASO Therapies: The How-Tos of Implementation
- Biochemical/Metabolic and Therapeutics
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre Petree Hall C | 1:30 PM - 3:00 PM
Platform Session 5: Neurodevelopmental and Biochemical Genetics
- Clinical Genetics and Therapeutics
- Laboratory Genetics and Genomics
- Prenatal Genetics
Los Angeles Convention Centre Petree Hall D | 1:30 PM - 3:00 PM
Platform Session 6: Laboratory Genetics
- Ethical Legal Social Issues (ELSI) Public Health and Policy
- Clinical Genetics and Therapeutics
- Health Services and Implementation
Los Angeles Convention Centre 502 AB | 1:30 PM - 3:00 PM
Platform Session 7: Genetic Data, Health Services, and ELSI
- Education and Research Strategies
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 501 ABC | 1:30 PM - 3:00 PM
Platform Session 8: Genomic Medicine and Education

Los Angeles Convention Centre West Hall Foyer | 3:00 PM - 3:30 PM
Refreshment Break

- Laboratory Genetics and Genomics
Los Angeles Convention Centre Petree Hall D | 3:30 PM - 5:00 PM
Advances in the Clinical and Laboratory Approaches to Repeat Expansion Disorders
- Biochemical/Metabolic and Therapeutics
Los Angeles Convention Centre Petree Hall C | 3:30 PM - 5:00 PM
Current Practice and Future Prospects for Autologous Ex Vivo Gene Treatment and HSCT in Lysosomal Storage Disease
- Health Services and Implementation
Los Angeles Convention Centre 502 AB | 3:30 PM - 5:00 PM
Genetic Counselor Forum: Sexual and Reproductive Health Counseling for Individuals with Intellectual Disability
- Cancer Genetics and Therapeutics
Los Angeles Convention Centre 515 AB | 3:30 PM - 5:00 PM
Importance of Paired Germline and Tumor Testing in Cancer Patients from Understudied Populations

- Clinical Genetics and Therapeutics
- Prenatal Genetics
Los Angeles Convention Centre 502 AB | 5:30 PM - 7:00 PM
Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)
- Laboratory Genetics and Genomics
Los Angeles Convention Centre 515 AB | 5:30 PM - 7:00 PM
Laboratory Diagnostic Challenges: Constitutional and Neoplastic Cases in Molecular, Cytogenomic, and Biochemical Genetics Specialties
- Cancer Genetics and Therapeutics
- Clinical Genetics and Therapeutics
Los Angeles Convention Centre 501 ABC | 5:30 PM - 7:00 PM
Medical Diagnostic Challenges (Adult and Cancer)

Los Angeles Convention Centre 519 | 7:00 AM - 12:30 PM
Lactation Room
Los Angeles Convention Centre 516 | 7:00 AM - 12:30 PM
Prayer and Meditation Room
Los Angeles Convention Centre 517 | 7:00 AM - 12:30 PM
Quiet Room
Los Angeles Convention Centre 507 | 7:00 AM - 12:30 PM
Speaker Check-In and Ready Room