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
BiallelicUGGT1gene variants cause a congenital disorder of glycosylation: Dardas, Zain ASHG Nov 5-9, 2024 2024-A-1747-ASHG
Defining and Reducing Variant Classification Disparities Dawood, Moez Mutational Scanning Symposium May 22-24, 2024 N/A
Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine Dawood, Moez ESHG - The European Society of Human Genetics June 1-4, 2024 C29.5
Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine Dawood, Moez ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 N/A
Functional assessment of Dishevelled pathogenic variants in Robinow syndrome Sinha Roy, Rituparna ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 3962
Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program Jhangiani, Shalini ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 N/A
Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. Rai, Archana ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 NA
Elucidating the role of de novo structural variations in a Mendelian disease cohort consisting of 169 families Jamsandekar, Minal ASHG - American Society of Human Genetics Annual Meeting Nov 5-9, 2024 N/A
De novo variants in GTF2H1 underlie variable syndromic developmental delay Patterson, Karynne ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 N/A
Investigating the role of the GABA transporter Solute carrier 6 member 1 (SLC6A1) in Mendelian disease traits Gogate, Nikhita ASHG - American Society of Human Genetics Annual Meeting November 5-6, 2024 2023
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
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