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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 Sort ascending Program #/ID
Whole exome sequencing and metabolomics screening of a Kobberling Familial Partial Lipodystrophy cohort identifies new candidate genes and dysregulated pathways Marvin, Colby T ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 not available yet
Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2 Gordon, William ASHG - American Society of Human Genetics Annual Meeting Nov. 1-5 2024-A-3856-ASHG
Variants in FGF20 underlie a novel breast malformation Buckingham, Kati ASHG - American Society of Human Genetics Annual Meeting Nov. 1-5 2024-A-1792-ASHG
Prediction at scale of lumping and splitting decisions to define monogenic gene-disease entities Khanam, Shirin ASHG - American Society of Human Genetics Annual Meeting November 5-9 2987
Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields Chong, Jessica ASHG - American Society of Human Genetics Annual Meeting November 5-9 #4030
Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratory Devaney, Joseph ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 #3876
Investigating the genetic and phenotypic landscape of ectodermal dysplasia Munderloh, Chloe ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2001
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
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
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
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
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
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
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
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