| SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus |
A. Garde |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1974 |
| 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 |
| Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder |
Avinash Dharmadhikari |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
ProgNbr 463 |
| Elucidating the genetic etiology underlying septo-optic dysplasia (SOD) |
Beheshti, Shaghayegh |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-3727-ASHG |
| MECP2 copy number variants studied by multiple approaches reveal impact of genomic structure to disease variability |
Bengtsson, Jesse |
2023 American Society of Human Genetics Annual Meeting |
November 1-5 |
|
2023-A-2794-ASHG |
| Making the call: Trends among successful strategies to conclude the diagnostic odyssey for participants at the Pacific Northwest Undiagnosed Diseases Network clinical site. |
Blue, Elizabeth |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB3237 |
| Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. |
Bonner, Devon |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1922 |
| 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 |
| Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies |
Boone, Philip |
ACMG |
March 14-17, 2023 |
|
159 |
| Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases |
Bozkurt-Yozgatli, Tugce |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-3286-ASHG |
| Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport |
Calame, Daniel |
ASHG |
November 1-5, 2023 |
|
n/a |
| Most genes are predicted to be Mendelian disease genes: implications for rare and common diseases |
Chong, Jessica |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
PB4876 |
| 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 |
| 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 |
| 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 |
