The phenotype of Sotos syndrome in adulthood: A review of 44 individuals by Foster, Alison, Zachariou, Anna, Loveday, Chey, Ashraf, Tazeen, Blair, Edward, Clayton‐Smith, Jill, Dorkins, Huw, Fryer, Alan, Gener, Blanca, Goudie, David, Henderson, Alex, Irving, Melita, Joss, Shelagh, Keeley, Vaughan, Lahiri, Nayana, Lynch, Sally Ann, Mansour, Sahar, McCann, Emma, Morton, Jenny, Motton, Nicole, Murray, Alexandra, Riches, Katie, Shears, Deborah, Stark, Zornitza, Thompson, Elizabeth, Vogt, Julie, Wright, Michael, Cole, Trevor, Tatton‐Brown, Katrina

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SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism by PINGAULT, Véronique, GIRARD, Mathilde, BONDURAND, Nadège, DORKINS, Huw, VAN MALDERGEM, Lionel, MOWAT, David, SHIMOTAKE, Takashi, VERMA, Ishwar, BAUMANN, Clarisse, GOOSSENS, Michel

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Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial by Manchanda, Ranjit, Loggenberg, Kelly, Sanderson, Saskia, Burnell, Matthew, Wardle, Jane, Gessler, Sue, Side, Lucy, Balogun, Nyala, Desai, Rakshit, Kumar, Ajith, Dorkins, Huw, Wallis, Yvonne, Chapman, Cyril, Taylor, Rohan, Jacobs, Chris, Tomlinson, Ian, McGuire, Alistair, Beller, Uziel, Menon, Usha, Jacobs, Ian

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE by MAVADDAT, Nasim, PEOCK, Susan, DAVIDSON, Rosemarie, ECCLES, Diana, COLE, Trevor, COOK, Jackie, BREWER, Carole, TISCHKOWITZ, Marc, DOUGLAS, Fiona, HODGSON, Shirley, WALKER, Lisa, PORTEOUS, Mary E, FROST, Debra, MORRISON, Patrick J, SIDE, Lucy E, KENNEDY, M. John, HOUGHTON, Catherine, DONALDSON, Alan, ROGERS, Mark T, DORKINS, Huw, MIEDZYBRODZKA, Zosia, GREGORY, Helen, EASON, Jacqueline, ELLIS, Steve, BARWELL, Julian, MCCANN, Emma, MURRAY, Alex, ANTONIOU, Antonis C, EASTON, Douglas F, PLATTE, Radka, FINEBERG, Elena, EVANS, D. Gareth, IZATT, Louise, EELES, Rosalind A, ADLARD, Julian

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Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing by Manchanda, Ranjit, Legood, Rosa, Burnell, Matthew, McGuire, Alistair, Raikou, Maria, Loggenberg, Kelly, Wardle, Jane, Sanderson, Saskia, Gessler, Sue, Side, Lucy, Balogun, Nyala, Desai, Rakshit, Kumar, Ajith, Dorkins, Huw, Wallis, Yvonne, Chapman, Cyril, Taylor, Rohan, Jacobs, Chris, Tomlinson, Ian, Beller, Uziel, Menon, Usha, Jacobs, Ian

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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) by MAVADDAT, Nasim, BARROWDALE, Daniel, MULLIGAN, Anna Marie, COUCH, Fergus J, ENGEL, Christoph, MCGUFFOG, Lesley, HEALER, Sue, SINILNIKOVA, Olga M, SOUTHEY, Melissa C, TERRY, Mary Beth, GOLDGAR, David, O'MALLEY, Frances, ANDRULIS, Irene L, JOHN, Esther M, JANAVICIUS, Ramunas, TIHOMIROVA, Laima, HANSEN, Thomas V. O, NIELSEN, Finn C, OSORIO, Ana, STAVROPOULOU, Alexandra, BENITEZ, Javier, MANOUKIAN, Siranoush, PEISSEL, Bernard, DOMCHEK, Susan M, BARILE, Monica, VOLORIO, Sara, PASIN, Barbara, DOLCETTI, Riccardo, PUTIGNANO, Anna Laura, OTTINI, Laura, RADICE, Paolo, HAMANN, Ute, RASHID, Muhammad U, HOGERVORST, Frans B, ECCLES, Diana, KRIEGE, Mieke, VAN DER LUIJT, Rob B, HEBON, PEOCK, Susan, FROST, Debra, GARETH EVANS, D, BREWER, Carole, WALKER, Lisa, ROGERS, Mark T, SIDE, Lucy E, NEVANLINNA, Heli, HOUGHTON, Catherine, EMBRACE, WEAVER, Joellen, GODWIN, Andrew K, SCHMUTZLER, Rita K, WAPPENSCHMIDT, Barbara, MEINDL, Alfons, KAST, Karin, RAMUS, Susan J, SPURDLE, Amanda, ROBSON, Mark, SHERMAN, Mark

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Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term secondary lifestyle behavioural outcomes by Burnell, Matthew, Gaba, Faiza, Sobocan, Monika, Desai, Rakshit, Sanderson, Saskia, Loggenberg, Kelly, Gessler, Sue, Side, Lucy, Brady, Angela F., Dorkins, Huw, Wallis, Yvonne, Jacobs, Chris, Legood, Rosa, Beller, Uziel, Tomlinson, Ian, Wardle, Jane, Menon, Usha, Jacobs, Ian, Manchanda, Ranjit

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Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects by Casey, Jillian P, Brennan, Kieran, Scheidel, Noemie, McGettigan, Paul, Lavin, Paul T, Carter, Stephen, Ennis, Sean, Dorkins, Huw, Ghali, Neeti, Blacque, Oliver E, Mc Gee, Margaret M, Murphy, Helen, Lynch, Sally Ann

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SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series by Williams, Sophie T., Chatzikyriakou, Prodromos, Carroll, Paul V., McGowan, Barbara M., Velusamy, Anand, White, Gemma, Obholzer, Rupert, Akker, Scott, Tufton, Nicola, Casey, Ruth T., Maher, Eamonn R., Park, Soo‐Mi, Porteous, Mary, Dyer, Rebecca, Tan, Tricia, Wernig, Florian, Brady, Angela F., Kosicka‐Slawinska, Monika, Whitelaw, Benjamin C., Dorkins, Huw, Lalloo, Fiona, Brennan, Paul, Carlow, Joseph, Martin, Richard, Mitchell, Anna L., Harrison, Rachel, Hawkes, Lara, Newell‐Price, John, Kelsall, Alan, Igbokwe, Rebecca, Adlard, Julian, Schirwani, Schaida, Davidson, Rosemarie, Morrison, Patrick J., Chung, Teng‐Teng, Bowles, Christopher, Izatt, Louise

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End-stage renal failure associated with congenital deafness by Annear, Nicholas M P, Gale, Daniel P, Loughlin, Sam, Dorkins, Huw R, Maxwell, Patrick H

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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers by Kuchenbaecker, Karoline B, Neuhausen, Susan L, Robson, Mark, Barrowdale, Daniel, McGuffog, Lesley, Mulligan, Anna Marie, Andrulis, Irene L, Spurdle, Amanda B, Schmidt, Marjanka K, Schmutzler, Rita K, Engel, Christoph, Wappenschmidt, Barbara, Nevanlinna, Heli, Thomassen, Mads, Southey, Melissa, Radice, Paolo, Ramus, Susan J, Domchek, Susan M, Nathanson, Katherine L, Lee, Andrew, Healey, Sue, Nussbaum, Robert L, Rebbeck, Timothy R, Arun, Banu K, James, Paul, Karlan, Beth Y, Lester, Jenny, Cass, Ilana, Terry, Mary Beth, Daly, Mary B, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, v O Hansen, Thomas, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Dennis, Joe, Cunningham, Julie, Hart, Steven, Slager, Susan, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Tafur, Isaac, Hander, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Roversi, Gaia, Scuvera, Giulietta, Bonanni, Bernardo, Mariani, Paolo, Volorio, Sara, Dolcetti, Riccardo, Varesco, Liliana, Papi, Laura, Tibiletti, Maria Grazia, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth, Frost, Debra, Eccles, Diana, Douglas, Fiona, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Ong, Kai-ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Ellis, Steve, Godwin, Andrew K, Rhiem, Kerstin, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders by Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.

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Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease by Abbasciano, R G, Barwell, J, Sayers, R, Bown, M, Milewicz, D, Cooper, G, Mariscalco, G, Wheeldon, N, Fowler, C, Owens, G, Murphy, G J

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The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine by Whitaker, Hayley C, Kote-Jarai, Zsofia, Ross-Adams, Helen, Warren, Anne Y, Burge, Johanna, George, Anne, Bancroft, Elizabeth, Jhavar, Sameer, Leongamornlert, Daniel, Tymrakiewicz, Malgorzata, Saunders, Edward, Page, Elizabeth, Mitra, Anita, Mitchell, Gillian, Lindeman, Geoffrey J, Evans, D Gareth, Blanco, Ignacio, Mercer, Catherine, Rubinstein, Wendy S, Clowes, Virginia, Douglas, Fiona, Hodgson, Shirley, Walker, Lisa, Donaldson, Alan, Izatt, Louise, Dorkins, Huw, Male, Alison, Tucker, Kathy, Stapleton, Alan, Lam, Jimmy, Kirk, Judy, Lilja, Hans, Easton, Douglas, Cooper, Colin, Eeles, Rosalind, Neal, David E

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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers by Antoniou, Antonis C, Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Varesco, Liliana, Radice, Paolo, Greene, Mark H., Glendon, Gord, Birk Jensen, Uffe, Crüger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Friedman, Eitan, Lindblom, Annika, Ehrencrona, Hans, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Gronwald, Jacek, Byrski, Tomasz, Cybulski, Cezary, Osorio, Ana, Ramón y Cajal, Teresa, Fostira, Florentia, Hogervorst, Frans B., Hooning, Maartje J., Meijers-Heijboer, Hanne E.J., Gómez Garcia, Encarna B., Peock, Susan, Platte, Radka, Lalloo, Fiona, Eeles, Ros, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-ren, Cook, Jackie, Douglas, Fiona, Paterson, Joan, John Kennedy, M., Miedzybrodzka, Zosia, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Tirapo, Carole, Barjhoux, Laure, Faivre, Laurence, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Daly, Mary B., John, Esther M., Singer, Christian F., Catharina Dressler, Anne, Offit, Kenneth, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Ewart Toland, Amanda, Montagna, Marco, Tognazzo, Silvia, Blanco, Ignacio, Pharoah, Paul D.P., Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Teo, Soo-Hwang, Beattie, Mary S., van Rensburg, Elizabeth J., Sluiter, Michelle D., Diez, Orland, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Chen, Xiaoqing, Spurdle, Amanda B., Fredericksen, Zachary, Couch, Fergus, Simard, Jacques

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers by Antoniou, Antonis C., Sinilnikova, Olga M., McGuffog, Lesley, Healey, Sue, Nevanlinna, Heli, Chen, Xiaoqing, Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Peissel, Bernard, Viel, Alessandra, Radice, Paolo, Szabo, Csilla I., Foretova, Lenka, Zikan, Michal, Claes, Kathleen, Greene, Mark H., Mai, Phuong L., Ozcelik, Hilmi, Thomassen, Mads, Sunde, Lone, Caligo, Maria A., Laitman, Yael, Kontorovich, Tair, Kaufman, Bella, Dagan, Efrat, Baruch, Ruth Gershoni, Harbst, Katja, Barbany-Bustinza, Gisela, Rantala, Johanna, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Blanco, Ignacio, Lasa, Adriana, Hamann, Ute, Rookus, Matti A., Collee, J. Margriet, Devilee, Peter, van der Luijt, Rob B., Waisfisz, Quinten, Wijnen, Juul, van Roozendaal, Cornelis E.P., Peock, Susan, Cook, Margaret, Frost, Debra, Oliver, Clare, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Izatt, Louise, Eccles, Diana, Cole, Trevor, Hodgson, Shirley, Buecher, Bruno, Léoné, Mélanie, Remenieras, Audrey, Caron, Olivier, Lenoir, Gilbert M., Sevenet, Nicolas, Longy, Michel, Ferrer, Sandra Fert, Prieur, Fabienne, Goldgar, David, Miron, Alexander, John, Esther M., Daly, Mary B., Hopper, John L., Gschwantler-Kaulich, Daphne, Staudigl, Christine, Hansen, Thomas v. O., Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Pal, Prodipto, Kosarin, Kristi, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Schwartz, Peter E., Montagna, Marco, Imyanitov, Evgeny N., Allavena, Anna, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Ditsch, Nina, Niederacher, Dieter, Deißler, Helmut, Fiebig, Britta, Suttner, Christian, Schönbuchner, Ines, Gadzicki, Dorothea, Caldes, Trinidad, Pooley, Karen A., Chenevix-Trench, Georgia

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Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers by Wang, Xianshu, Pankratz, V. Shane, Fredericksen, Zachary, Tarrell, Robert, Karaus, Mary, McGuffog, Lesley, Pharaoh, Paul D.P., Ponder, Bruce A.J., Dunning, Alison M., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Houdayer, Claude, Hogervorst, Frans B.L., Hooning, Maartje J., Ligtenberg, Marjolijn J., Spurdle, Amanda, Chenevix-Trench, Georgia, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Singer, Christian F., Gschwantler-Kaulich, Daphne, Dressler, Catherina, Fink, Anneliese, Szabo, Csilla I., Zikan, Michal, Foretova, Lenka, Claes, Kathleen, Thomas, Gilles, Hoover, Robert N., Hunter, David J., Chanock, Stephen J., Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J.

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Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes by REBBECK, Timothy R, MITRA, Nandita, OLOPADE, Olufunmilayo I, WEITZEL, Jeffrey N, LYNCH, Henry T, SNYDER, Carrie L, GARBER, Judy E, ANTONIOU, Antonis C, PEOCK, Susan, GARETH EVANS, D, PATERSON, Joan, KENNEDY, M. John, DOMCHEK, Susan M, DONALDSON, Alan, DORKINS, Huw, EASTON, Douglas F, RUBINSTEIN, Wendy S, DALY, Mary B, ISAACS, Claudine, NEVANLINNA, Heli, COUCH, Fergus J, ANDRULIS, Irene L, FREIDMAN, Eitan, FEI WAN, LAITMAN, Yael, GANZ, Patricia A, TOMLINSON, Gail E, NEUHAUSEN, Susan L, NAROD, Steven A, PHELAN, Catherine M, GREENBERG, Roger, NATHANSON, Katherine L, FRIEBEL, Tara M, TRAN, Teo V, SINGER, Christian F, TEA, Muy-Kheng Maria, BLUM, Joanne L, TUNG, Nadine

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Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation by Tarpey, Patrick S., Stevens, Claire, Teague, Jon, Edkins, Sarah, O’Meara, Sarah, Avis, Tim, Barthorpe, Syd, Buck, Gemma, Butler, Adam, Cole, Jennifer, Dicks, Ed, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Hinton, Jonathon, Jones, David, Menzies, Andrew, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Tofts, Calli, Varian, Jennifer, West, Sofie, Widaa, Sara, Yates, Andy, Catford, Rachael, Butler, Julia, Mallya, Uma, Moon, Jenny, Luo, Ying, Dorkins, Huw, Thompson, Deborah, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Carpenter, Nancy, Simensen, Richard J., Schwartz, Charles E., Stevenson, Roger E., Turner, Gillian, Partington, Michael, Gecz, Jozef, Stratton, Michael R., Futreal, P. Andrew, Raymond, F. Lucy

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Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status by POOLEY, Karen A, MCGUFFOG, Lesley, BREWER, Carole, COLE, Trevor, COOK, Jackie, DAVIDSON, Rosemarie, DONALDSON, Alan, DORKINS, Huw, DOUGLAS, Fiona, EASON, Jacqueline, HOUGHTON, Catherine, KENNEDY, M. John, BARROWDALE, Daniel, MCCANN, Emma, MIEDZYBRODZKA, Zosia, MURRAY, Alex, PORTEOUS, Mary E, ROGERS, Mark T, SIDE, Lucy E, TISCHKOWITZ, Marc, WALKER, Lisa, HODGSON, Shirley, ECCLES, Diana M, FROST, Debra, MORRISON, Patrick J, EVANS, D. Gareth, EELES, Rosalind A, ANTONIOU, Antonis C, EASTON, Douglas F, DUNNING, Alison M, ELLIS, Steve D, FINEBERG, Elena, PLATTE, Radka, IZATT, Louise, ADLARD, Julian, BARDWELL, Julian

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