Author
University of California, Los Angeles
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers…·Esteban C. Dell’Angelica
The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.
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.