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
Transcriptome-Wide Association Studies and Integration Analysis of mRNA Expression Profiles Identify Candidate Genes and Pathways Associated With Ankylosing Spondylitis.
Frontiers In Immunology
Feng, Ruoyang R; Lu, Mengnan M; Liu, Lin L; Xu, Ke K; Xu, Peng P
Target Genes of Autism Risk Loci in Brain Frontal Cortex.
Frontiers In Genetics
Sun, Yan Y; Yao, Xueming X; March, Michael E ME; Meng, Xinyi X; Li, Junyi J; Wei, Zhi Z; Sleiman, Patrick M A PMA; Hakonarson, Hakon H; Xia, Qianghua Q; Li, Jin J
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.
Npj Genomic Medicine
Robinson, Philip C PC; Leo, Paul J PJ; Pointon, Jennifer J JJ; Harris, Jessica J; Cremin, Katie K; Bradbury, Linda A LA; Stebbings, Simon S; Harrison, Andrew A AA; , ; , ; , ; , ; , ; , ; Duncan, Emma L EL; Evans, David M DM; Wordsworth, Paul B PB; Brown, Matthew A MA
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
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Nature Biotechnology
Denny, Joshua C JC; Bastarache, Lisa L; Ritchie, Marylyn D MD; Carroll, Robert J RJ; Zink, Raquel R; Mosley, Jonathan D JD; Field, Julie R JR; Pulley, Jill M JM; Ramirez, Andrea H AH; Bowton, Erica E; Basford, Melissa A MA; Carrell, David S DS; Peissig, Peggy L PL; Kho, Abel N AN; Pacheco, Jennifer A JA; Rasmussen, Luke V LV; Crosslin, David R DR; Crane, Paul K PK; Pathak, Jyotishman J; Bielinski, Suzette J SJ; Pendergrass, Sarah A SA; Xu, Hua H; Hindorff, Lucia A LA; Li, Rongling R; Manolio, Teri A TA; Chute, Christopher G CG; Chisholm, Rex L RL; Larson, Eric B EB; Jarvik, Gail P GP; Brilliant, Murray H MH; McCarty, Catherine A CA; Kullo, Iftikhar J IJ; Haines, Jonathan L JL; Crawford, Dana C DC; Masys, Daniel R DR; Roden, Dan M DM
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
Nature Genetics
Evans, David M DM; Spencer, Chris C A CC; Pointon, Jennifer J JJ; Su, Zhan Z; Harvey, David D; Kochan, Grazyna G; Oppermann, Udo U; Opperman, Udo U; Dilthey, Alexander A; Pirinen, Matti M; Stone, Millicent A MA; Appleton, Louise L; Moutsianas, Loukas L; Moutsianis, Loukas L; Leslie, Stephen S; Wordsworth, Tom T; Kenna, Tony J TJ; Karaderi, Tugce T; Thomas, Gethin P GP; Ward, Michael M MM; Weisman, Michael H MH; Farrar, Claire C; Bradbury, Linda A LA; Danoy, Patrick P; Inman, Robert D RD; Maksymowych, Walter W; Gladman, Dafna D; Rahman, Proton P; , ; Morgan, Ann A; Marzo-Ortega, Helena H; Bowness, Paul P; Gaffney, Karl K; Gaston, J S Hill JS; Smith, Malcolm M; Bruges-Armas, Jacome J; Couto, Ana-Rita AR; Sorrentino, Rosa R; Paladini, Fabiana F; Ferreira, Manuel A MA; Xu, Huji H; Liu, Yu Y; Jiang, Lei L; Lopez-Larrea, Carlos C; Díaz-Peña, Roberto R; López-Vázquez, Antonio A; Zayats, Tetyana T; Band, Gavin G; Bellenguez, Céline C; Blackburn, Hannah H; Blackwell, Jenefer M JM; Bramon, Elvira E; Bumpstead, Suzannah J SJ; Casas, Juan P JP; Corvin, Aiden A; Craddock, Nicholas N; Deloukas, Panos P; Dronov, Serge S; Duncanson, Audrey A; Edkins, Sarah S; Freeman, Colin C; Gillman, Matthew M; Gray, Emma E; Gwilliam, Rhian R; Hammond, Naomi N; Hunt, Sarah E SE; Jankowski, Janusz J; Jayakumar, Alagurevathi A; Langford, Cordelia C; Liddle, Jennifer J; Markus, Hugh S HS; Mathew, Christopher G CG; McCann, Owen T OT; McCarthy, Mark I MI; Palmer, Colin N A CN; Peltonen, Leena L; Plomin, Robert R; Potter, Simon C SC; Rautanen, Anna A; Ravindrarajah, Radhi R; Ricketts, Michelle M; Samani, Nilesh N; Sawcer, Stephen J SJ; Strange, Amy A; Trembath, Richard C RC; Viswanathan, Ananth C AC; Waller, Matthew M; Weston, Paul P; Whittaker, Pamela P; Widaa, Sara S; Wood, Nicholas W NW; McVean, Gilean G; Reveille, John D JD; Wordsworth, B Paul BP; Brown, Matthew A MA; Donnelly, Peter P; , ; ,
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Gastroenterology
Anderson, Carl A CA; Massey, Dunecan C O DC; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Fisher, Sheila A SA; Gwilliam, Rhian R; Jacob, Jemima J; Nimmo, Elaine R ER; Drummond, Hazel H; Lees, Charlie W CW; Onnie, Clive M CM; Hanson, Catherine C; Blaszczyk, Katarzyna K; Ravindrarajah, Radhi R; Hunt, Sarah S; Varma, Dhiraj D; Hammond, Naomi N; Lewis, Gregory G; Attlesey, Heather H; Watkins, Nick N; Ouwehand, Willem W; Strachan, David D; McArdle, Wendy W; Lewis, Cathryn M CM; , ; Lobo, Alan A; Sanderson, Jeremy J; Jewell, Derek P DP; Deloukas, Panos P; Mansfield, John C JC; Mathew, Christopher G CG; Satsangi, Jack J; Parkes, Miles M