Sharayu Jangam

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C. Marcogliese et al. · Nature Communications · 2019 · 62 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 52 citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Rare deleterious <i>de novo</i> missense variants in <i>Rnf2/Ring2</i> are associated with a neurodevelopmental disorder with unique clinical features

Xi Luo, Kelly Schoch, Sharayu Jangam et al. · Human Molecular Genetics · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Pak-regulated cell intercalation event leading to a novel radial cell polarity is involved in positioning of the follicle stem cell niche in the<i>Drosophila</i>ovary

Stephanie Vlachos, Sharayu Jangam, Ryan Conder et al. · Development · 2014 · 18 citations · Full text

Life Sciences, Cell Biology, Developmental Biology +17