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
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
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia Munderloh, Chloe ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 3051
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
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
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
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
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
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
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
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
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
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
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 2023 Not available
NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy Dardas, Zain ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-4057-ASHG
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing Cohen, Andrea J. ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 2023-A-3728-ASHG
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