Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience |
Groopman, Emily |
ACMG - American College of Medical Genetics and Genomics |
March 14-18 |
|
O04 |
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females |
Miller, Danny |
ACMG - American College of Medical Genetics and Genomics |
March 14-18, 2023 |
|
P672 |
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort |
Groopman, Emily |
ACMG - American College of Medical Genetics and Genomics |
March 14-18 |
|
P474 |
Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine |
Dawood, Moez |
ACMG - American College of Medical Genetics and Genomics |
March 12-16, 2024 |
|
Featured Platform Presentations: 14-Mar-2024 8:00 AM |
Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins |
Zain Dardas |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2303 |
Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort |
Andy Rivera |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1888 |
NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy |
Dardas, Zain |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-4057-ASHG |
ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease |
Scott Barish |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1895 |
Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery |
Boone, Philip |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-4, 2023 |
|
2023-A-1559-ASHG |
Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms |
Ruizhi (Vince) Duan |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1898 |
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing |
Patterson, Karynne |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
TBD |
Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration |
Daniel Calame |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1920 |
Data sharing in the GREGoR Consortium to support rare genetic disease research. |
Heavner, Ben |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
not available |
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing |
Cohen, Andrea J. |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
2023-A-3728-ASHG |
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal |
Moez Dawood |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
ProgNbr 147 |