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
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
Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder Avinash Dharmadhikari ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 463
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Marafi, Dana ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 090
A multiomics approach to resolving small supernumerary marker chromosomes Grochowski, Christopher M. ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2248
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
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