A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

- Corbett, Mark A., Dudding-Byth, Tracy, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef, Field, Michael, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects

- Lill, Christina M., Liu, Tian, Blaschke, Paul, Winkelmann, Alexander, Gerdes, Lisa-Ann, Luessi, Felix, Fernadez, Oscar, Izquierdo, Guillermo, Antiguedad, Alfredo, Hoffjan, Sabine, Cournu-Rebeix, Isabelle, Gromoller, Silvana, Schjeide, Brit-Maren M., Faber, Hans, Liebsch, Maria, Meissner, Esther, Chanvillard, Coralie, Touze, Emmauel, Pico, Fernando, Corcia, Philippe, Bahlo, Melanie, Booth, David R., Broadley, Simon, Roehr, Johannes T., Brown, Matthew A., Browning, Brian L., Browning, Sharon R., Butzkueven, Helmut, Carroll, William M., Cox, Mathew B., Chapman, Caron, Clarke, Glynnis, Danoy, Patrick, Drysdale, Karen, Akkad, Denis A., Field, Judith, Foote, Simon J., Greer, Judith M., Griffiths, Lyn R., Hadler, Johanna, Jensen, Cathy J., Johnson, Laura J., Kermode, Allan G., Heard, Robert N., Kilpatrick, Trevor J., Damotte, Vincent, Lechner-Scott, Jeanette, Marriott, Mark, Mason, Deborah, Moscato, Pablo, Pender, Michael P., Perreau, Victoria M., Rubio, Justin P., Scott, Rodney J., Slee, Mark, Stankovich, Jim, Alcina, Antonio, Stewart, Graeme J., Tajouri, Lofti, Taylor, Bruce V., Wiley, James, Wilkins, Ella J., Dörner, Thomas, Steinhagen-Thiessen, Elisabeth, Baeckman, Lars, Heekeren, Hauke R., Li, Shu-Chen, Ortiz, Miguel A., Lindenberger, Ulman, Chan, Andrew, Hartung, Hans-Peter, Aktas, Orhan, Lohse, Peter, Kümpfel, Tania, Kubisch, Christian, Epplen, Joerg T., Zettl, Uwe K., Fontaine, Bertrand, Arroyo, Rafa, Vandenbroeck, Koen, Matesanz, Fuencisla, Urcelay, Elena, Bertram, Lars, Zipp, Frauke, Lopez de Lapuente, Aitzkoa

Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome

- Talseth-Palmer, Bente A., Brenne, Ingvild S., Scott, Rodney J., Ashton, Katie A., Evans, Tiffany-Jane, McPhillips, Mary, Groombridge, Claire, Suchy, Janina, Kurzawski, Grzegorz, Spigelman, Allan, Lubinski, Jan

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

- Thorwarth, Anne, Schnittert-Hüebener, Sarah, Ebert, Grit, Steininger, Anne, Böennemann, Carsten, Brockmann, Knut, Christen, Hans-Jürgen, Crock, Patricia, deZegher, Francis, Griese, Matthias, Hewitt, Jacqueline, Ivarsson, Sten, Schrumpf, Pamela, Hüebner, Christoph, Kapelari, Klaus, Plecko, Barbara, Rating, Dietz, Stoeva, Iva, Ropers, Hans-Hilger, Grüeters, Annette, Ullmann, Reinhard, Krude, Heiko, Müeller, Ines, Jyrch, Sabine, Dame, Christof, Biebermann, Heike, Kleinau, Gunnar, Katchanov, Juri, Schuelke, Markus

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

- Hynes, Kim, Tarpey, Patrick, Haan, Eric, Turner, Gillian, Christodoulou, John, Leonard, Helen, Gill, Deepak, Stratton, Michael R., Gecz, Jozef, Scheffer, Ingrid E., Dibbens, Leanne M., Bayly, Marta A., Berkovic, Samuel F., Smith, Raffaella, Al Raisi, Zahyia, Turner, Samantha J., Brown, Natasha J., Desai, Tarishi D.

Gastrointestinal polyps in McCune Albright syndrome

- Zacharin, Margaret, Bajpai, Anurag, Chow, Chung Wo, Catto-Smith, Anthony, Stratakis, Constantine, Wong, Michelle W., Scott, Rodney

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

- Southey, Melissa C., Goldgar, David E., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Dörk, Thilo, Claes, Kathleen B. M., Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Winqvist, Robert, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, JG, Schmidt, MK, Broeks, A, Hogervorst, FB, Verhoef, S, Carpenter, J, Clarke, C, Scott, Rodney J., Pylkäs, Katri, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, MK, Sawyer, EJ, Couch, Fergus, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Tischkowitz, Marc, Bojesen, S, Nielsen, SF, Flyger, H, Benitez, J, Zamora, MP, Perez, JIA, Menéndez, P, Anton-Culver, H, Neuhausen, S, Ziogas, A, Foulkes, William D., Clarke, CA, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, YD, Muranen, TA, Aittomäki, K, Blomqvist, C, Dennis, Joe, Bogdanova, NV, Antonenkova, NN, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Spurdle, AB, Michailidou, Kyriaki, van Rensburg, Elizabeth J.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

- Tan, T. Y., Aftimos, S., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Savarirayan, R., Peters, G., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A.

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

- Maupetit-Méhouas, Stéphanie, Mariot, Virginie, Shenoy, Savitha, Agbo-Kpati, Placide, Ronan, Anne, Naud-Saudreau, Catherine, Lienhardt, Anne, Silve, Caroline, Linglart, Agnès, Reynès, Christelle, Bertrand, Guylène, Feillet, Francois, Carel, Jean-Claude, Simon, Dominique, Bihan, Hélène, Gajdos, Vincent, Devouge, Eve