Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
- Creator: Springelkamp, Henriët , Höhn, René , Luo, Xiaoyan , Deloukas, Panos , Duncanson, Audrey , Jankowski, Janusz , Markus, Hugh S. , Mathew, Christopher G. , Palmer, Colin N. A. , Plomin, Robert , Rautanen, Anna , Sawcer, Stephen J. , Trembath, Richard C. , Ramdas, Wishal D. , Viswanathan, Ananth C. , Wood, Nicholas W. , Spencer, Chris C. A. , Band, Gavin , Bellenguez, Céline , Freeman, Colin , Hellenthal, Garrett , Giannoulatou, Eleni , Pirinen, Matti , Pearson, Richard , Vithana, Eranga , Strange, Amy , Su, Zhan , Vukcevic, Damjan , Donnelly, Peter , Langford, Cordelia , Hunt, Sarah E. , Edkins, Sarah , Gwilliam, Rhian , Blackburn, Hannah , Bumpstead, Suzannah J. , Nongpiur, Monisha E. , Droniv, Serge , Gillman, Matthew , Gray, Emma , Hammond, Naomi , Jayakumar, Alagurevathi , McCann, Owen T. , Liddle, Jennifer , Potter, Simon C. , Ravindrarajah, Alagurevathi , Rocketts, Michelle , Montgomery, Grant W. , Waller, Matthew , Weston, Paul , Widaa, Sara , Whittaker, Pamela , Barroso, Ines , Blackwell, Jenefer M. , Brown , Matthew A. , Corvin, Aiden , Xu, Liang , Spencer , Chris C. A. , Spector, Timothy D. , Mirshahi, Alireza , Saw, Seang-Mei , Vingerling, Johannes R. , Teo, Yik-Ying , Haines, Jonathan L. , Wolfs, Roger C. W. , Lemij, Hans G. , Tai, E-Shyong , Mountain, Jenny E. , Jansonius, Nomdo M. , Jonas, Jost B. , Hammond, CJ , Gharahkhani, Puya , Lu, Yi , Amin, Najaf , Mishra, Aniket , Karssen, Lennart C. , Sim, Kar-seng , van Leeuwen, Elisabeth M. , Iglesias, Adriana I. , Verhoeven, Virginie J. M. , Hauser, Michael A. , Loon, Seng-Chee , Despriet, Dominiek D. G. , Nag, Abhishek , Venturini, Cristina , Hysi, Pirro G. , Sanfilippo, Paul G. , Schillert, Arne , Kang, Jae H. , Landers, John , Jonasson, Fridbert , Cree, Angela J. , van Koolwijk, Leonieke M. E. , Rivadeneira, Fernando , Souzeau, Emmanuelle , Jonsson, Vesteinn , Khor, Chiea-Cheun , Menon, Geeta , Mitchell, Paul , Wang, Jie Jin , Rochtchina, Elena , Attia, John , Scott, Rodney , Holliday, Elizabeth G. , Wong, Tien-Yin , Baird, Paul N. , Xie, Jing , Loomis, Stephanie J. , Inouye, Michael , Viswanathan, Ananth , Sim, Xueling , Weinreb, Robert N. , de Jong, Paulus T. V. M. , Oostra, Ben A. , Uitterlinden, André G. , Hofman, Albert , Ennis, Sarah , Thorsteinsdottir, Unnu , Bailey, Jessica N. Cooke , Burdon, Kathryn , Allingham, R. Band , Brilliant, Murray H. , Budenz, Donald L. , Christen, William G. , Fingert, John , Friedman, David S. , Gaasterland, Douglas , Gaasterland, Terry , Gibson, Jane , Hauder, Michael A. , Kang, Jae Hee , Kraft, Peter , Lee, Richard K. , Lichter, Paul R. , Liu, Yutao , Moroi, Sayoko E. , Pasquale, Louis R. , Thorleifsson, Gudmar , Pericak-Vance, Margaret A. , Realini, Anthony , Richards, Julia E. , Schuman, Joel S. , Scott, William K. , Singh, Kuldev , Sit, Arthur J. , Vollrath, Douglas , Wiggs, Janey L. , Janssen, Sarah F. , Wollstein, Gadi , Zack, Donald J. , Zhang, Kang , Bramon, Elvira , Brown, Matthew A. , Casas, Juan P.
- Resource Type: journal article
- Date: 2014
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke
- Creator: Bellenguez, Céline , Bevan, Steve , Band, Gavin , Syme, Paul D. , Malik, Rainer , Pera, Joanna , Norrving, Bo , Lemmens, Robin , Freeman, Colin , Schanz, Renata , James, Tom , Poole, Deborah , Gschwendtner, Andreas , Murphy, Lee , Segal, Helen , Cortellini, Lynelle , Cheng, Yu-Ching , Woo, Daniel , Nalls, Michael A. , Müller-Myhsok, Bertram , Meisinger, Christa , Seedorf, Udo , Ross-Adams, Helen , Spencer, Chris C. A. , Boonen, Steven , Wloch-Kopec, Dorota , Valant, Valerie , Slark, Julia , Furie, Karen , Delavaran, Hossein , Langford, Cordelia , Deloukas, Panos , Edkins, Sarah , Hunt, Sarah , Burgess, Annette I. , Gray, Emma , Dronov, Serge , Peltonen, Leena , Gretarsdottir, Solveig , Thorleifsson, Gudmar , Thorsteinsdottir, Unnur , Stefansson, Kari , Boncoraglio, Giorgio B. , Parati, Eugenio A. , Attia, John , Pirinen, Matti , Holliday, Elizabeth , Levi, Chris , Franzosi, Maria-Grazia , Goel, Anuj , Helgadottir, Anna , Blackwell, Jenefer M. , Bramon, Elvira , Brown, Matthew A. , Casas, Juan P. , Corvin, Aiden , Jackson, Caroline A. , Duncanson, Audrey , Jankowski, Janusz , Mathew, Christopher G. , Palmer, Colin N. A. , Plomin, Robert , Rautanen, Anna , Sawcer, Stephen J. , Trembath, Richard C. , Viswanathan, Ananth C. , Wood, Nicholas W. , Traylor, Matthew , Worrall, Bradford B. , Kittner, Steven J. , Mitchell, Braxton D. , Kissela, Brett , Meschia, James F. , Thijs, Vincent , Lindgren, Arne , Macleod, Mary Joan , Slowik, Agnieszka , Walters, Matthew , Strange, Amy , Rosand, Jonathan , Sharma, Pankaj , Farrall, Martin , Sudlow, Cathie L. M. , Rothwell, Peter M. , Dichgans, Martin , Donnelly, Peter , Markus, Hugh S. , Su, Zhan
- Resource Type: journal article
- Date: 2012
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
- Creator: Rujirabanjerd, Sinitdhorn , Nelson, John , Futreal, P. Andrew , Stratton, Michael R. , Gecz, Jozef , Tarpey, Patrick S. , Hackett, Anna , Edkins, Sarah , Raymond, F. Lucy , Schwartz, Charles E. , Turner, Gillian , Iwase, Shigeki , Shi, Yang
- Resource Type: journal article
- Date: 2010
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Creator: Tarpey, Patrick S. , Smith, Raffaella , Stephens, Phil , Blow, Matt , Greenman, Chris , Xue, Yali , Tyler-Smith, Chris , Thompson, Deborah , Gray, Kristian , Andrews, Jenny , Barthorpe, Syd , Buck, Gemma , Pleasance, Erin , Hackett, Anna , Whibley, Annabel , Edkins, Sarah , Hardy, Claire , O'Meara, Sarah , Latimer, Calli , Dicks, Ed , Menzies, Andrew
- Resource Type: journal article
- Date: 2009
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- Creator: Molinari, Florence , Foulquier, François , Matthijs, Gert , Gecz, Jozef , Munnich, Arnold , Colleaux, Laurence , Tarpey, Patrick S. , Morelle, Willy , Boissel, Sarah , Teague, Jon , Edkins, Sarah , Futreal, P. Andrew , Stratton, Michael R. , Turner, Gillian
- Resource Type: journal article
- Date: 2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
- Creator: Gilfillan, Gregor D. , Selmer, Kaja K. , Sjøholm, Hans , Server, Andres , Samuelsson, Lena , Christianson, Arnold , Tarpey, Patrick , Whibley, Annabel , Stratton, Michael R. , Futreal, P. Andrew , Teague, Jon , Edkins, Sarah , Roxrud, Ingrid , Gecz, Jozef , Turner, Gillian , Raymond, F. Lucy , Schwartz, Charles , Stevenson, Roger E. , Undlien, Dag E. , Strømme, Petter , Smith, Raffaella , Kyllerman, Mårten , Eiklid, Kristin , Kroken, Mette , Mattingsdal, Morten , Egeland, Thore , Stenmark, Harald
- Resource Type: journal article
- Date: 2008