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
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
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
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2988
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders Liu, Pengfei ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 434
The Multiple de novo Copy Number Variant (MdnCNV) phenomenon: peri-zygotic DNA mutational signatures and multilocus pathogenic variations Haowei Du ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2703
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion Hadia Hijazi ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1981
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus A. Garde ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1974
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal Moez Dawood ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 147
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
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
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
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
FOXI3 pathogenic variants cause one form of craniofacial microsomia Stylianos Antonarakis ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2586
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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