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
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Folate-mediated one-carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study.
Cancer
Cheng, Ting-Yuan David TY; Makar, Karen W KW; Neuhouser, Marian L ML; Miller, Joshua W JW; Song, Xiaoling X; Brown, Elissa C EC; Beresford, Shirley A A SA; Zheng, Yingye Y; Poole, Elizabeth M EM; Galbraith, Rachel L RL; Duggan, David J DJ; Habermann, Nina N; Bailey, Lynn B LB; Maneval, David R DR; Caudill, Marie A MA; Toriola, Adetunji T AT; Green, Ralph R; Ulrich, Cornelia M CM
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: MTRR: S257T; rs2303080
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: MTRR: S257T; rs2303080
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.
Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Levine, A Joan AJ; Figueiredo, Jane C JC; Lee, Won W; Conti, David V DV; Kennedy, Kathleen K; Duggan, David J DJ; Poynter, Jenny N JN; Campbell, Peter T PT; Newcomb, Polly P; Martinez, Maria Elena ME; Hopper, John L JL; Le Marchand, Loic L; Baron, John A JA; Limburg, Paul J PJ; Ulrich, Cornelia M CM; Haile, Robert W RW
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
Bmc Medical Genetics
Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH