Author
National Institutes of HealthORCID 0000-0001-7023-7271Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Thomas Minten, Sarah Bick, Sophia M. Adelson…·Dominique C. Pichard
The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.
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.