| A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy |
Reuter, Chloe |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
TBD |
| Clinical exome sequencing efficacy and phenotypic expansions in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) |
Rivera-Munoz, Andres |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-1625-ASHG |
| Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O |
Roni Zemet Lazar |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1771 |
| 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 |
| Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge |
Sarah L. Stenton |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
ProgNbr 052 |
| 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 |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia |
Stylianos Antonarakis |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2586 |
| Exome technology innovations advancing personalized medicine |
Walker, Kimberly |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2988 |
| A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools |
Wiel, Laurens |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB1019 |
| 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 |
