Perisynaptic matrix gene variants underlie DystoniaGeneNet endophenotypes in isolated focal dystonia
Aloysius Domingo, Dongren Yao, Nyah Kshatriya, Kotchaphorn Mangkalaphiban, Giovanni Battistella, Lena C. O’Flynn, Bailey Reese, Madison Hincher, Rachita Yadav, Nutan Sharma, Laura Williams, Conor Fearon, Owen Killian, Richard B. Reilly, Michael Hutchinson, , Laurie J. Ozelius
This paper uses a deep learning model to identify genetic variants associated with isolated focal dystonia by leveraging neuroimaging endophenotypes.
medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine