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
Genetic polymorphism in Methylenetetrahydrofolate Reductase chloride transport protein 6 (MTHFR CLCN6) gene is associated with keratinocyte skin cancer in a cohort of renal transplant recipients.
Skin Health And Disease
Griffin, L L; Ho, L L; Akhurst, R J RJ; Arron, S T ST; Boggs, J M E JME; Conlon, P P; O'Kelly, P P; Toland, A E AE; Epstein, E H EH; Balmain, A A; Bastian, B C BC; Moloney, F J FJ; Murphy, G M GM; Laing, M E ME
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.
Environmental Health Perspectives
Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y
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
Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.
Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
Genetic Epidemiology
Locke, Adam E AE; Dooley, Kenneth J KJ; Tinker, Stuart W SW; Cheong, Soo Yeon SY; Feingold, Eleanor E; Allen, Emily G EG; Freeman, Sallie B SB; Torfs, Claudine P CP; Cua, Clifford L CL; Epstein, Michael P MP; Wu, Michael C MC; Lin, Xihong X; Capone, George G; Sherman, Stephanie L SL; Bean, Lora J H LJ
Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry.
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; Poynter, Jenny N JN; Conti, David D; Duggan, David J DJ; 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
A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
Bmc Genomics
Hong, Sun Pyo SP; Ji, Seung Il SI; Rhee, Hwanseok H; Shin, Soo Kyeong SK; Hwang, Sun Young SY; Lee, Seung Hwan SH; Lee, Soong Deok SD; Oh, Heung-Bum HB; Yoo, Wangdon W; Kim, Soo-Ok SO