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.

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.

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

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

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

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

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

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.

Variable phenotypic expression in HNPCC and the search for modifier genes

- Scott, Rodney J.