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
Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration Daniel Calame ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1920
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
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
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females Miller, Danny ACMG - American College of Medical Genetics and Genomics March 14-18, 2023 P672
Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation Gustafson, Jonas ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 na
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
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
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
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia Munderloh, Chloe ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 3051
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
Identification of TUBGCP2 and CAMSAP1 as novel neuronal migration disorder associated genes Mitani, Tadahiro 65th Annual Meeting of the Japanese Society of Child Neurology May 25-27, 2023 NA
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
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
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
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