Author
University of California, Los AngelesORCID 0000-0001-9081-9711Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Felix Marbach, Georgi Stoyanov, Florian Erger…·Elizabeth L. Fieg
The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.
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.
James Holt, Camille L. Birch, Donna M. Brown…·Elizabeth A. Worthey
The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.