High-frequency actionable pathogenic exome variants in an average-risk cohort.
Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
American Journal Of Human Genetics
Chong, Jessica X JX; Burrage, Lindsay C LC; Beck, Anita E AE; Marvin, Colby T CT; McMillin, Margaret J MJ; Shively, Kathryn M KM; Harrell, Tanya M TM; Buckingham, Kati J KJ; Bacino, Carlos A CA; Jain, Mahim M; Alanay, Yasemin Y; Berry, Susan A SA; Carey, John C JC; Gibbs, Richard A RA; Lee, Brendan H BH; Krakow, Deborah D; Shendure, Jay J; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.
Oncogene
Pugh, T J TJ; Yu, W W; Yang, J J; Field, A L AL; Ambrogio, L L; Carter, S L SL; Cibulskis, K K; Giannikopoulos, P P; Kiezun, A A; Kim, J J; McKenna, A A; Nickerson, E E; Getz, G G; Hoffher, S S; Messinger, Y H YH; Dehner, L P LP; Roberts, C W M CW; Rodriguez-Galindo, C C; Williams, G M GM; Rossi, C T CT; Meyerson, M M; Hill, D A DA
Publication Date: 2014-11-06
Variant appearance in text: MYH3: 4910C>T; A1637V; rs34165480