| 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 |
| A multiomics approach to resolving small supernumerary marker chromosomes |
Grochowski, Christopher M. |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2248 |
| 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 |
| Complex genetic architecture underlying craniofacial microsomia |
Gogate, Nikhita |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
3787 |
| Genome reference impacts RNA-seq interpretation and rare disease diagnosis |
Goddard, Pagé and Ungar, Rachel |
ASHG - American Society of Human Genetics Annual Meeting |
Oct 25-29, 2022 |
|
ProgNbr 553 |
| Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder |
F. G. Frost |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1810 |
| Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits |
Duan, Ruizhi |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB4786 |
| VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data |
Du, Haowei |
ASHG - American Society of Human Genetics Annual Meeting |
11/2/2023 |
|
PB3523 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
