Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

- Gusev, Alexander, Lee, S. Hong, Kähler, Anna K., Hultman, Christina M., Purcell, Shaun M., McCarroll, Steven A., Daly, Mark, Pasaniuc, Bogdan, Sullivan, Patrick F., Neale, Benjamin M., Wray, Naomi R., Raychaudhuri, Soumya, Trynka, Gosia, Price, Alkes L., Finucane, Hilary, Vilhjálmsson, Bjarni J., Xu, Han, Zang, Chongzhi, Ripke, Stephan, Bulik-Sullivan, Brendan, Stahl, Eli

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

- 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

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

- 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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

- Froyen, Guy, Corbett, Mark, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Vandewalle, Joke, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Jarvela, Irma, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

- Hallmayer, Joachim F., Badcock, Johanna, Hollingsworth, Kate, Corder, Elizabeth H., Dragović, Milan, Howell, Sarah, Michie, Patricia T., Rock, Daniel, Vile, David, Williams, Rachael, Jablensky, Assen, Kalaydjieva, Luba

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

- Hallmayer, J.F., Badcock, J., Dragovi, M., Howell, S., Michie, Patricia Therese, Rock, D., Vile, D., Williams, R., Jablensky, A., Kalaydjieva, L., Hollingsworth, K., Corder, E.H.

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

- Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J. P., Van Esch, H., Kleefstra, T., Hamel, B., Moraine, C., Gecz, J., Turner, Gillian, Reinhardt, R., Kalscheuer, V. M., Ropers, H. H., Lenzner, S.

Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds

- Scott, Rodney J., McPhillips, Mary, Meldrum, Cliff J., Fitzgerald, Patrick E., Adams, Kirsten, Spigelman, Allan D., du Sart, Desiree, Tucker, Kathy, Kirk, Judy, Hunter Family Cancer Service,