Author
Duke UniversityORCID 0000-0003-0586-9277Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Nataliya Di Donato, Andrew Thom, Andreas Rump…·Siddharth Banka
The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.
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.
Cole A. Deisseroth, Johannes A. Birgmeier, Ethan E. Bodle…·Gill Bejerano
ClinPhen automatically extracts and prioritizes patient phenotypes from medical records to improve genetic disease diagnosis efficiency.
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.