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
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
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
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
ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder. Mendez, Hector Rodrigo ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-1571-ASHG
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 P474
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
A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools Wiel, Laurens ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 PB1019
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Marafi, Dana ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 090
A multiomics approach to resolving small supernumerary marker chromosomes Grochowski, Christopher M. ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2248
A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy Reuter, Chloe ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 TBD
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