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
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
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
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
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
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing Cohen, Andrea J. ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 2023-A-3728-ASHG
Driver project for advancing long-read de novo genome assembly methods in clinical research Délot, Emmanuèle ASHG Nov 1-5, 2023 2023-A-4146-ASHG
Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery Boone, Philip ASHG - American Society of Human Genetics Annual Meeting Nov 1-4, 2023 2023-A-1559-ASHG
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
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
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
VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data Du, Haowei ASHG - American Society of Human Genetics Annual Meeting 11/2/2023 PB3523
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
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
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