Author

Shavonne L. Massey

Children's Hospital of PhiladelphiaORCID 0000-0002-8496-221XUnclaimed ORCID profile · follow to get notified of new preprints

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:electronic health records· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ala SomarowthuiD· 1 shared Ethan M. GoldbergiD· 1 shared Ingo HelbigiD· 1 shared Jérôme ClatotiD· 1 shared Jillian L. McKeeiD· 1 shared Shridhar ParthasarathyiD· 1 shared Stacey R. CoheniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Ala SomarowthuORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintJun 29, 2022

The SCN1A Philadelphia variant - a gain-of-function mutation causing an early-onset epileptic encephalopathy

Jérôme Clatot, Shridhar Parthasarathy, Stacey R. Cohen…·Ingo Helbig

This paper identifies and characterizes the SCN1A p.R1636Q gain-of-function variant, showing it causes early-onset epileptic encephalopathy with distinct clinical and electrophysiological features.

1 citation

humanelectronic health records

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