Shridhar Parthasarathy

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Katherine Crawford, Julie Xian, Katherine L. Helbig et al. · Genetics in Medicine · 2021 · 69 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins et al. · Nature Communications · 2023 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp><i>SCN1A</i></scp> gain‐of‐function mutation causing an early onset epileptic encephalopathy

Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen et al. · Epilepsia · 2022 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot et al. · The American Journal of Human Genetics · 2022 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +16