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
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
Driver project for advancing long-read de novo genome assembly methods in clinical research Délot, Emmanuèle ASHG Nov 1-5, 2023 2023-A-4146-ASHG
Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport Calame, Daniel ASHG November 1-5, 2023 n/a
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 2023 Not available
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies Boone, Philip ACMG March 14-17, 2023 159
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
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
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
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
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing Patterson, Karynne ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 TBD
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
Data sharing in the GREGoR Consortium to support rare genetic disease research. Heavner, Ben ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 not available
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
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
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
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