Publications:

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 2839G>A; Val947Met

PubMed Link: 32347949

Variant Present in the following documents:

• Main text
• jamanetwopen-3-e203812-s001.pdf

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Frontiers In Neurology

Demos, Michelle M; Guella, Ilaria I; DeGuzman, Conrado C; McKenzie, Marna B MB; Buerki, Sarah E SE; Evans, Daniel M DM; Toyota, Eric B EB; Boelman, Cyrus C; Huh, Linda L LL; Datta, Anita A; Michoulas, Aspasia A; Selby, Kathryn K; Bjornson, Bruce H BH; Horvath, Gabriella G; Lopez-Rangel, Elena E; van Karnebeek, Clara D M CDM; Salvarinova, Ramona R; Slade, Erin E; Eydoux, Patrice P; Adam, Shelin S; Van Allen, Margot I MI; Nelson, Tanya N TN; Bolbocean, Corneliu C; Connolly, Mary B MB; Farrer, Matthew J MJ

Publication Date: 2019

Variant appearance in text: SCN1A: 2839G>A

PubMed Link: 31164858

Variant Present in the following documents:

• Main text

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