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: KCTD7: 456G>A; Val152=; rs796052686

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Nature Medicine

Frésard, Laure L; Smail, Craig C; Ferraro, Nicole M NM; Teran, Nicole A NA; Li, Xin X; Smith, Kevin S KS; Bonner, Devon D; Kernohan, Kristin D KD; Marwaha, Shruti S; Zappala, Zachary Z; Balliu, Brunilda B; Davis, Joe R JR; Liu, Boxiang B; Prybol, Cameron J CJ; Kohler, Jennefer N JN; Zastrow, Diane B DB; Reuter, Chloe M CM; Fisk, Dianna G DG; Grove, Megan E ME; Davidson, Jean M JM; Hartley, Taila T; Joshi, Ruchi R; Strober, Benjamin J BJ; Utiramerur, Sowmithri S; , ; , ; Lind, Lars L; Ingelsson, Erik E; Battle, Alexis A; Bejerano, Gill G; Bernstein, Jonathan A JA; Ashley, Euan A EA; Boycott, Kym M KM; Merker, Jason D JD; Wheeler, Matthew T MT; Montgomery, Stephen B SB

Publication Date: 2019-06

Variant appearance in text: KCTD7: V152V

PubMed Link: 31160820

Variant Present in the following documents:

• Main text
• nihms-1527102.pdf

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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.

Journal Of Genetic Counseling

Zastrow, Diane B DB; Kohler, Jennefer N JN; Bonner, Devon D; Reuter, Chloe M CM; Fernandez, Liliana L; Grove, Megan E ME; Fisk, Dianna G DG; , ; Yang, Yaping Y; Eng, Christine M CM; Ward, Patricia A PA; Bick, David D; Worthey, Elizabeth A EA; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT

Publication Date: 2019-04

Variant appearance in text: KCTD7: 456G>A; Val152Val

PubMed Link: 30964584

Variant Present in the following documents:

• Main text

View BVdb publication page