Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

- Francis, David I., Stark, Zornitza, Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Scheffer, Ingrid E., Hackett, Anna, Ayres, S, Lunke, S, Kalitsis, P, Wall, M, Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A.

Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives

- Cullen, Melissa B. R., Meiser, Bettina, Barlow-Stewart, Kristine, Green, Melissa, Appelbaum, Paul S., Carr, Vaughan J., Cairns, Murray J., Lebowitz, M. S., Kaur, Rajneesh

Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study

- Vetsch, Janine, Wakefield, Claire E., Downie, Peter, Egan, Karen, Ellis, Sarah, Emery, Jon, Fardell, Joanna, Foreman, Tali, Gabriel, Melissa, Girgis, Afaf, Graham, Kerrie, Johnston, Karen, Tucker, Katherine M., Jones, Janelle, Lockwood, L, Maguire, A, McLoone, J, Mechinaud, F, Molloy, S, Moore, L, Osborn, M, Skeen, J, Tapp, H, McCarthy, Maria, Till, T, Truscott, J, Turpin, K, Wakefield, C, Williamson, J, Yallop, K, Signorelli, Christina, Walwyn, Thomas, Alvaro, Frank, Cohn, Richard J., Cohn, Richard, Corbett, Rob

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

- Jansen, Sandra, Hoischen, Alexander, Van Bon, Bregje W., Claahsen-Van Der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Coe, Bradley P., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marlos, Stevens, Servi J.C., Stumpel, Connie T., Vansenne, Fleur, Carvill, Gemma L., Vinci, Mirella, Van De Vorst, Maartje, Vries, Petra D., Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E.L.M., Eichler, Evan E., Van Esch, Hilde, De Vries, Bert B.A., Bosch, Danielle G.M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A.

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

- Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L., Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef

8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome

- Talseth-Palmer, Bente A., Scott, Rodney J., Vasen, Hans F. A., Wijnen, Juul T.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

- Jensen, Lars R., Chen, Wei, van Esch, Hilde, Chelly, Jamel, de Brouwer , Arjan P. M., Hackett, Anna, van der Haar , Sigrun, Henn, Wolfram, Gecz, Jozef, Riess, Olaf, Bonin, Michael, Reinhardt, Richard, Moser, Bettina, Ropers, Hans-Hilger, Kuss, Andreas W., Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M., Meloni, Ilaria, Raynaud, Martine

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

- Hackett, Anna, Tarpey, Patrick S., Tolmie, John, Yates, John R. W., Turner, Gillian, WIlson, Meredith, Futreal, Andrew P., Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F. Lucy, Stratton, Micahel R., Licata, Andrea, Schwartz, Charles E., Abidi, Fatima E., Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E.

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

- 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

MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer

- Reeves, Stuart G., Meldrum, Cliff, Groombridge, Claire, Spigelman, Allan D., Suchy, Janina, Kurzawski, Grzegorz, Lubinski, Jan, McElduff, Patrick, Scott, Rodney J.

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

- Frints, Suzanna Gerarda Maria, Lenzner, Steffen, Turner, Gillian, Bauters, Mareike, Jensen, Lars Riff, Van Esch, Hilde, des Portes, Vincent, Moog, Ute, Macville, Merryn Victor Erik, van Roozendaal, Kees, Schrander-Stumpel, Constance Theresia Rimbertha Maria

Variable phenotypic expression in HNPCC and the search for modifier genes

- Scott, Rodney J.

Epistatic interaction between the monoamine oxidase A and serotonin transporter genes in anorexia nervosa

- Urwin, R. E., Nunn, Kenneth P.