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
DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.
International Journal Of Molecular Epidemiology And Genetics
Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C
Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.
Environmental Health Perspectives
Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Nature Genetics
Shen, Jun J; Gilmore, Edward C EC; Marshall, Christine A CA; Haddadin, Mary M; Reynolds, John J JJ; Eyaid, Wafaa W; Bodell, Adria A; Barry, Brenda B; Gleason, Danielle D; Allen, Kathryn K; Ganesh, Vijay S VS; Chang, Bernard S BS; Grix, Arthur A; Hill, R Sean RS; Topcu, Meral M; Caldecott, Keith W KW; Barkovich, A James AJ; Walsh, Christopher A CA