Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies |
LaFlamme, Christy |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
Sat Nov 4 10:45am-11am Presenter 004 |
FOXI3 pathogenic variants cause one form of craniofacial microsomia |
Stylianos Antonarakis |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2586 |
Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3 |
Kaur, Parneet |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5. 2023 |
|
PB3233 |
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 |
Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation |
Gustafson, Jonas |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
na |