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
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2988
ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder. Mendez, Hector Rodrigo ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-1571-ASHG
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
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
Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. Bonner, Devon ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1922
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
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
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
Genome reference impacts RNA-seq interpretation and rare disease diagnosis Goddard, Pagé and Ungar, Rachel ASHG - American Society of Human Genetics Annual Meeting Oct 25-29, 2022 ProgNbr 553
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
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
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
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
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
Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder F. G. Frost ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1810
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