Abstracts

Below is a list of a list of submitted GREGoR Consortium conference abstracts.

Title Lead Author Name of Professional Meeting Meeting Date(s) Submitted Program #/ID
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
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
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
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
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
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
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
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
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
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
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
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
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