NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

by Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R.P, Rahman, Nazneen
Published 2003

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

by Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O'Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T., Selicorni, Angelo, Temple, Karen I., Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Published 2014

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism

by Oldridge, Derek A., Wood, Andrew C., Weichert-Leahey, Nina, Crimmins, Ian, Sussman, Robyn, Winter, Cynthia, McDaniel, Lee D., Diamond, Maura, Hart, Lori S., Zhu, Shizhen, Durbin, Adam D., Anders, Lars, Tian, Lifeng, Zhang, Shile, Wei, Jun S., Khan, Javed, Bramlett, Kelli, Rahman, Nazneen, Capasso, Mario, Iolascon, Achille, Gerhard, Daniela S., Guidry Auvil, Jaime M., Hakonarson, Hakon, Diskin, Sharon J., Thomas Look, A., Maris, John M., Abraham, Brian Joseph, Young, Richard A.
Published 2017

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

by Prokunina-Olsson, Ludmila, Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H., Hillemanns, Peter, Couch, Fergus J., Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W.R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K., Van 't Veer, Laura J., Braaf, Linde M., Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C., Hopper, John L., Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L., Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I., Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J., Tollenaar, Robert A.E.M, Hooning, Maartje J., Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L., Arias, José Ignacio, Zamora, M. Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G., Group, AOCS Study, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A., Caligo, Maria A., Godwin, Andrew K., Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L., Domchek, Susan M., Loman, Niklas, Karlsson, Per, Askmalm, Marie Stenmark, Melin, Beatrice, von Wachenfeldt, Anna, Hogervorst, Frans B. L., Verheus, Martijn, Rookus, Matti A., Seynaeve, Caroline, Oldenburg, Rogier A., Ligtenberg, Marjolijn J., Ausems, Margreet G.E.M, Aalfs, Cora M., Gille, Hans J.P, Wijnen, Juul T., Gómez García, Encarna B., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Evans, D. Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D.P, Offit, Kenneth, Chenevix-Trench, Georgia, Easton, Douglas F.
Published 2012

Common germline polymorphisms associated with breast cancer-specific survival

by Pirie, Ailith, Guo, Qi, Kraft, Peter, Canisius, Sander, Eccles, Diana M., Rahman, Nazneen, Nevanlinna, Heli, Chen, Constance, Khan, Sofia, Tyrer, Jonathan, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Lush, Michael, Dunning, Alison M., Shah, Mitul, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Lambrechts, Dieter, Weltens, Caroline, Leunen, Karin, van Ongeval, Chantal, Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Blomqvist, Carl, Aittomäki, Kristiina, Fagerholm, Rainer, Muranen, Taru A., Olsen, Janet E., Hallberg, Emily, Vachon, Celine, Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Broeks, Annegien, Cornelissen, Sten, Haiman, Christopher A., Henderson, Brian E., Schumacher, Frederick, Le Marchand, Loic, Hopper, John L., Tsimiklis, Helen, Apicella, Carmel, Southey, Melissa C., Cross, Simon S., Reed, Malcolm W.R, Giles, Graham G., Milne, Roger L., McLean, Catriona, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Hooning, Maartje J, Hollestelle, Antoinette, Martens, John WM, van den Ouweland, Ans MW, Marme, Federick, Schneeweiss, Andreas, Yang, Rongxi, Burwinkel, Barbara, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Brenner, Hermann, Butterbach, Katja, Holleczek, Bernd, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Li, Jingmei, Brand, Judith S., Humphreys, Keith, Devilee, Peter, Tollenaar, Robert A.E.M, Seynaeve, Caroline, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Ficarazzi, Filomena, Beckmann, Matthias W, Hein, Alexander, Ekici, Arif B, Balleine, Rosemary, Phillips, Kelly-Anne, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Gronwald, Jacek, Durda, Katarzyna, Hamann, Ute, Kabisch, Maria, Ulmer, Hans Ulrich, Rüdiger, Thomas, Margolin, Sara, Kristensen, Vessela, Nord, Siljie, Evans, D Gareth, Abraham, Jean, Earl, Helena, Poole, Christopher J., Hiller, Louise, Dunn, Janet A., Bowden, Sarah, Yang, Rose, Campa, Daniele, Diver, W. Ryan, Gapstur, Susan M., Gaudet, Mia M, Hankinson, Susan, Hoover, Robert N., Hüsing, Anika, Kaaks, Rudolf, Machiela, Mitchell J., Willett, Walter, Barrdahl, Myrto, Canzian, Federico, Chin, Suet-Feung, Caldas, Carlos, Hunter, David J., Lindstrom, Sara, Garcia-Closas, Montserrat, Couch, Fergus J., Chenevix-Trench, Georgia, Mannermaa, Arto, Andrulis, Irene L., Hall, Per, Chang-Claude, Jenny, Easton, Douglas F., Bojesen, Stig E., Cox, Angela, Fasching, Peter A., Pharoah, Paul D.P, Schmidt, Marjanka K.
Published 2015