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 |
Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3 |
Kaur, Parneet |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5. 2023 |
|
PB3233 |
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 |
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders |
Liu, Pengfei |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
434 |
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode |
Marafi, Dana |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
ProgNbr 090 |
Expanding the range of WNT signaling syndromes: a promoter variant in WNT9B is a candidate in a case with Femoral Facial syndrome. |
Marvin, Colby |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB4755 |
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 |
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 |
Identification of TUBGCP2 and CAMSAP1 as novel neuronal migration disorder associated genes |
Mitani, Tadahiro |
65th Annual Meeting of the Japanese Society of Child Neurology |
May 25-27, 2023 |
|
NA |
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal |
Moez Dawood |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
ProgNbr 147 |
New approaches to increase rare disease diagnoses in GREGoR |
Montgomery, Stephen |
Genomics of Rare Disease |
March 23-26, 2023 |
|
Not available |
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia |
Munderloh, Chloe |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
3051 |
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing |
Patterson, Karynne |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
TBD |
Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. |
Rai, Archana |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB1568 |