Publication: Functional screening of SMARCD1 genetic variants . . .

In March 2024, Dr J Kramer was awarded an Innovation grant which supported a graduate student, which led to the successful development of a Drosophila assay to assess variants in the SMARCD1 gene that are potentially associated with a neurodevelopmental disorder (NDD).

The results of this work was presented as a poster at the 2025 Annual Clinical Genetics Meeting of the American College of Medical Genetics and Genomics (ACMG). 

The poster abstract was published in the journal Genetics in Medicine Open. https://doi.org/10.1016/j.gimo.2025.103013.

Abby Edison presenting at ACMG (American College of Medical Genetics and Genomics), March 2025, Los Angeles