Publications:

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I

Publication Date: 2020-12

Variant appearance in text: SCN1A: 2665G>A; Ala889Thr

PubMed Link: 32773773

Variant Present in the following documents:

• 41436_2020_923_MOESM3_ESM.xls, sheet 1

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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: 2665G>A; Ala889Thr

PubMed Link: 32347949

Variant Present in the following documents:

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

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: SCN1A: 2665G>A; Ala889Thr

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page