Author
The University of Texas Health Science Center at HoustonORCID 0000-0001-5126-8515Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme…·Dorothea Wand
This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.
Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov…·Christine M. Eng
The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann…·Noah D. Friedman
This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.