Publications:

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine

van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J

Publication Date: 2021-09-16

Variant appearance in text: EGFR: 350A>G

PubMed Link: 34531397

Variant Present in the following documents:

• 41525_2021_238_MOESM1_ESM.pdf

View BVdb publication page

Integrative annotation and knowledge discovery of kinase post-translational modifications and cancer-associated mutations through federated protein ontologies and resources.

Scientific Reports

Huang, Liang-Chin LC; Ross, Karen E KE; Baffi, Timothy R TR; Drabkin, Harold H; Kochut, Krzysztof J KJ; Ruan, Zheng Z; D'Eustachio, Peter P; McSkimming, Daniel D; Arighi, Cecilia C; Chen, Chuming C; Natale, Darren A DA; Smith, Cynthia C; Gaudet, Pascale P; Newton, Alexandra C AC; Wu, Cathy C; Kannan, Natarajan N

Publication Date: 2018-04-25

Variant appearance in text: EGFR: Y117C

PubMed Link: 29695735

Variant Present in the following documents:

• 41598_2018_24457_MOESM1_ESM.pdf

View BVdb publication page

Significant Improvement in Detecting BRAF, KRAS, and EGFR Mutations Using Next-Generation Sequencing as Compared with FDA-Cleared Kits.

Molecular Diagnosis & Therapy

Ma, Wanlong W; Brodie, Steven S; Agersborg, Sally S; Funari, Vincent A VA; Albitar, Maher M

Publication Date: 2017-10

Variant appearance in text: EGFR: 350A>G; Tyr117Cys

PubMed Link: 28639239

Variant Present in the following documents:

• Main text
• 40291_2017_Article_290.pdf

View BVdb publication page