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
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
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
Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies LaFlamme, Christy ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 Sat Nov 4 10:45am-11am Presenter 004
FOXI3 pathogenic variants cause one form of craniofacial microsomia Stylianos Antonarakis ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2586
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
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
Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort Andy Rivera ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1888
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