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
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
Identification of an emphysema-associated genetic variant near TGFB2 with regulatory effects in lung fibroblasts.
Elife
Parker, Margaret M MM; Hao, Yuan Y; Guo, Feng F; Pham, Betty B; Chase, Robert R; Platig, John J; Cho, Michael H MH; Hersh, Craig P CP; Thannickal, Victor J VJ; Crapo, James J; Washko, George G; Randell, Scott H SH; Silverman, Edwin K EK; San José Estépar, Raúl R; Zhou, Xiaobo X; Castaldi, Peter J PJ
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Common coding variant in SERPINA1 increases the risk for large artery stroke.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Malik, Rainer R; Dau, Therese T; Gonik, Maria M; Sivakumar, Anirudh A; Deredge, Daniel J DJ; Edeleva, Evgeniia V EV; Götzfried, Jessica J; van der Laan, Sander W SW; Pasterkamp, Gerard G; Beaufort, Nathalie N; Seixas, Susana S; Bevan, Steve S; Lincz, Lisa F LF; Holliday, Elizabeth G EG; Burgess, Annette I AI; Rannikmäe, Kristiina K; Minnerup, Jens J; Kriebel, Jennifer J; Waldenberger, Melanie M; Müller-Nurasyid, Martina M; Lichtner, Peter P; Saleheen, Danish D; , ; Rothwell, Peter M PM; Levi, Christopher C; Attia, John J; Sudlow, Cathie L M CL; Braun, Dieter D; Markus, Hugh S HS; Wintrode, Patrick L PL; Berger, Klaus K; Jenne, Dieter E DE; Dichgans, Martin M
Connecting genetic risk to disease end points through the human blood plasma proteome.
Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
Thorax
Jackson, Victoria E VE; Ntalla, Ioanna I; Sayers, Ian I; Morris, Richard R; Whincup, Peter P; Casas, Juan-Pablo JP; Amuzu, Antoinette A; Choi, Minkyoung M; Dale, Caroline C; Kumari, Meena M; Engmann, Jorgen J; Kalsheker, Noor N; Chappell, Sally S; Guetta-Baranes, Tamar T; McKeever, Tricia M TM; Palmer, Colin N A CN; Tavendale, Roger R; Holloway, John W JW; Sayer, Avan A AA; Dennison, Elaine M EM; Cooper, Cyrus C; Bafadhel, Mona M; Barker, Bethan B; Brightling, Chris C; Bolton, Charlotte E CE; John, Michelle E ME; Parker, Stuart G SG; Moffat, Miriam F MF; Wardlaw, Andrew J AJ; Connolly, Martin J MJ; Porteous, David J DJ; Smith, Blair H BH; Padmanabhan, Sandosh S; Hocking, Lynne L; Stirrups, Kathleen E KE; Deloukas, Panos P; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD; Wain, Louise V LV
Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.
European Journal Of Human Genetics : Ejhg
Jiao, Hong H; Arner, Peter P; Gerdhem, Paul P; Strawbridge, Rona J RJ; Näslund, Erik E; Thorell, Anders A; Hamsten, Anders A; Kere, Juha J; Dahlman, Ingrid I
A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach.
Plos Genetics
Traylor, Matthew M; Mäkelä, Kari-Matti KM; Kilarski, Laura L LL; Holliday, Elizabeth G EG; Devan, William J WJ; Nalls, Mike A MA; Wiggins, Kerri L KL; Zhao, Wei W; Cheng, Yu-Ching YC; Achterberg, Sefanja S; Malik, Rainer R; Sudlow, Cathie C; Bevan, Steve S; Raitoharju, Emma E; , ; Oksala, Niku N; Thijs, Vincent V; Lemmens, Robin R; Lindgren, Arne A; Slowik, Agnieszka A; Maguire, Jane M JM; Walters, Matthew M; Algra, Ale A; Sharma, Pankaj P; Attia, John R JR; Boncoraglio, Giorgio B GB; Rothwell, Peter M PM; de Bakker, Paul I W PI; Bis, Joshua C JC; Saleheen, Danish D; Kittner, Steven J SJ; Mitchell, Braxton D BD; Rosand, Jonathan J; Meschia, James F JF; Levi, Christopher C; Dichgans, Martin M; Lehtimäki, Terho T; Lewis, Cathryn M CM; Markus, Hugh S HS
Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.
American Journal Of Respiratory And Critical Care Medicine
Castaldi, Peter J PJ; Cho, Michael H MH; San José Estépar, Raúl R; McDonald, Merry-Lynn N ML; Laird, Nan N; Beaty, Terri H TH; Washko, George G; Crapo, James D JD; Silverman, Edwin K EK; ,
Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.
Bmc Medical Genetics
Haq, Imran I; Chappell, Sally S; Johnson, Simon R SR; Lotya, Juzer J; Daly, Leslie L; Morgan, Kevin K; Guetta-Baranes, Tamar T; Roca, Josep J; Rabinovich, Roberto R; Millar, Ann B AB; Donnelly, Seamas C SC; Keatings, Vera V; MacNee, William W; Stolk, Jan J; Hiemstra, Pieter S PS; Miniati, Massimo M; Monti, Simonetta S; O'Connor, Clare M CM; Kalsheker, Noor N