Below is a list of a list of submitted GREGoR Consortium conference abstracts.
Title | Lead Author | Name of Professional Meeting | Meeting Date(s) | Submitted Sort ascending | Program #/ID |
---|---|---|---|---|---|
Multi-omics framework for diagnosing NAXE deficiency | Gogate, Nikhita | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | Omics Technologies Poster Thursday Session | |
Multi-omic data and rare disease research in the GREGoR Consortium | Heavner, Benjamin D. | ASHG - American Society of Human Genetics Annual Meeting | November 8, 2024 | N/A | |
GREGoR: Advancing Rare Disease Research | Heavner, Benjamin D. | ASHG - American Society of Human Genetics Annual Meeting | November 2, 2023 | N/A | |
Generating and sharing valuable rare disease data via the GREGoR Consortium | Wheeler, M | ASHG - American Society of Human Genetics Annual Meeting | November 5-9, 2024 | Board 2036T | |
Data sharing in the GREGoR Consortium to support rare genetic disease research | Heavner, Benjamin D. | ASHG - American Society of Human Genetics Annual Meeting | November 1-5, 2023 | PB4711 | |
Sharing valuable rare disease and multiomic data through the GREGoR Consortium | Wheeler, Marsha | ASHG - American Society of Human Genetics Annual Meeting | October 14th-18th | Platform presentation | |
A multi-omic diagnostic framework leveraging long-read sequencing for unsolved rare disease | Munderloh, Chloe | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | Session 27 | |
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 |