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. Elsevier; 2008. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

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. Nature Publishing Group; 2012. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.

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. Nature Publishing Group; 2010. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

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, Deloukas, Panos, Mathew, Christopher G., 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., Bailey, Jessica N. Cooke, Christen, William G., Fingert, John, Friedman, David S., Gaasterland, Douglas, Gaasterland, Terry, Gibson, Jane, Haines, Jonathan L., Hauder, Michael A., Kang, Jae Hee, Kraft, Peter, Lee, Richard K., Lichter, Paul R., Liu, Yutao, Loomis, Stephanie J., 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, Weinreb, Robert N., Wiggs, Janey L., Janssen, Sarah F., Wollstein, Gadi, Zack, Donald J., Zhang, Kang, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden. Nature Publishing Group; 2014. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

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. Elsevier; 2008. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

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. Nature Publishing Group; 2009. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.