| 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 |
| 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 |
| 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 |
| TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion |
Hadia Hijazi |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1981 |
| Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia |
Munderloh, Chloe |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
3051 |
| 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 |
| Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females |
Miller, Danny |
ACMG - American College of Medical Genetics and Genomics |
March 14-18, 2023 |
|
P672 |
| Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort |
Groopman, Emily |
ACMG - American College of Medical Genetics and Genomics |
March 14-18 |
|
P474 |
| 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 |
| 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 |
