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
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
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
Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine Dawood, Moez ACMG - American College of Medical Genetics and Genomics March 12-16, 2024 Featured Platform Presentations: 14-Mar-2024 8:00 AM
Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 O04
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
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
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
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