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
Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins Zain Dardas ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2303
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
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2988
FOXI3 pathogenic variants cause one form of craniofacial microsomia Stylianos Antonarakis ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2586
ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease Scott Barish ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1895
Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge Sarah L. Stenton ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 052
Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms Ruizhi (Vince) Duan ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1898
Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O Roni Zemet Lazar ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1771
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
A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy Reuter, Chloe ASHG - American Society of Human Genetics Annual Meeting Nov 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
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
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia Munderloh, Chloe ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 3051
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 2023 Not available
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
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