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 |
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 |
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 |
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia |
Munderloh, Chloe |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
3051 |
Complex genetic architecture underlying craniofacial microsomia |
Gogate, Nikhita |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
3787 |
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 |
ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder. |
Mendez, Hector Rodrigo |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-1571-ASHG |
Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications |
Grochowski, Christopher |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-3165-ASHG |
BCM-GREGoR: A rare disease program to solve the unsolved with novel methods and analytical approaches |
Jhangiani, Shalini |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
N/A |
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 |
Driver project for advancing long-read de novo genome assembly methods in clinical research |
Délot, Emmanuèle |
ASHG |
Nov 1-5, 2023 |
|
2023-A-4146-ASHG |
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 |
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 |
Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms |
Khanam, Shirin |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
PB3269 |
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 |