Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
- Creator: 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
- Resource Type: journal article
- Date: 2014
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
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: 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
- Resource Type: journal article
- Date: 2008
Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit
- Creator: 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
- Resource Type: journal article
- Date: 2005
Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit
- Creator: 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.
- Resource Type: journal article
- Date: 2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
- Creator: 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.
- Resource Type: journal article
- Date: 2005
Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
- Creator: 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,
- Resource Type: journal article
- Date: 2001