Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Genomic characterization of intrinsic and acquired resistance to cetuximab in colorectal cancer patients.
Scientific Reports
Bray, Steven M SM; Lee, Jeeyun J; Kim, Seung Tae ST; Hur, Joon Young JY; Ebert, Philip J PJ; Calley, John N JN; Wulur, Isabella H IH; Gopalappa, Thejaswini T; Wong, Swee Seong SS; Qian, Hui-Rong HR; Ting, Jason C JC; Liu, Jiangang J; Willard, Melinda D MD; Novosiadly, Ruslan D RD; Park, Young Suk YS; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Aggarwal, Amit A; Kim, Hee Cheol HC; Reinhard, Christoph C
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyƶ, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02
Variant appearance in text: KRT16: R418C; rs56259134
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: KRT16: R418C; rs56259134
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
The British Journal Of Dermatology
Wilson, N J NJ; O'Toole, E A EA; Milstone, L M LM; Hansen, C D CD; Shepherd, A A AA; Al-Asadi, E E; Schwartz, M E ME; McLean, W H I WH; Sprecher, E E; Smith, F J D FJ