Truncated ASXL3 Alters Chromatin Accessibility and Epigenetic Landscape in Bainbridge-Ropers Syndrome Suggesting a Gain-of-Function Etiology
Nofar Mor, Inna Shomer, Shaul Raviv, Noga Budick-Harmelin, Tanya Matzevitch, Shalhevet Azriel, Joseph G. Gleeson, Yoach Rais, Rebecca Haffner, Shifra Ben‐Dor, Omri Nayshool, Sharon Avkin-Nachum, Adi Yahalom, Efrat Glick‐Saar, Gali Heimer, , Dan Dominissini
Patient-derived neuronal models and mouse models reveal that truncated ASXL3 drive epigenetic dysregulation through a gain-of-function mechanism.
medRxiv · Aug 5, 2026 · PreprintGenetic & Genomic Medicine