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
GREGoR: Accelerating Genomics for Rare Diseases Dawood, Moez ACMG - American College of Medical Genetics and Genomics March 18-22, 2025 Platform Session 8; O28
Genetic models and ASTN1 variant contributions to neurodevelopmental disorders via deficits in astrotactin-mediated neuronal migration  Levine, Jesse ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-3169
Genomic analyses of 317 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel autosomal recessive neurodevelopmental rare disease traits K. Saad, Ahmed ASHG - American Society of Human Genetics Annual Meeting November 5-9 Board 2041T
CSTB null disease demonstrates the exquisite dosage sensitivity of cystatin B in humans Calame, Daniel ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 Board 2019T
Generating and sharing valuable rare disease data via the GREGoR Consortium Wheeler, Marsha M. ASHG November 5-9th 2024 Board 2036T
Technical and ethical considerations and guidelines for return of RNA-seq results for rare disease research participants Ungar, Rachel ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 7083F
Investigating the genetic etiologies underlying septo-optic dysplasia (SOD) Beheshti, Shaghayegh ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 2024-A-1744-ASHG
A variety of molecular mechanisms cause copy number gains at 17p11.2 locus causing Potocki-Lupski syndrome: understanding patients with CNVs that do not include RAI1 Pande, Shruti ASHG - American Society of Human Genetics Annual Meeting November 5-9 2024-A-2882-ASHG
A multi-omics approach improves the diagnosis and understanding of inborn errors of immunity Bonner, Devon ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 3863
BiallelicUGGT1gene variants cause a congenital disorder of glycosylation: Dardas, Zain ASHG Nov 5-9, 2024 2024-A-1747-ASHG
Defining and Reducing Variant Classification Disparities Dawood, Moez Mutational Scanning Symposium May 22-24, 2024 N/A
Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine Dawood, Moez ESHG - The European Society of Human Genetics June 1-4, 2024 C29.5
Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine Dawood, Moez ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 N/A
Functional assessment of Dishevelled pathogenic variants in Robinow syndrome Sinha Roy, Rituparna ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 3962
Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program Jhangiani, Shalini ASHG - American Society of Human Genetics Annual Meeting November 5-9, 2024 N/A
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