High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

Get full text

Prostate Cancer Risks for Male BRCA1▪ and BRCA2 Mutation Carriers: A Prospective Cohort Study by Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.

Get full text

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

Get full text

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services by Evans, D Gareth, Barwell, Julian, Eccles, Diana M, Collins, Amanda, Izatt, Louise, Jacobs, Chris, Donaldson, Alan, Brady, Angela F, Cuthbert, Andrew, Harrison, Rachel, Thomas, Sue, Howell, Anthony, Miedzybrodzka, Zosia, Murray, Alex

Get full text

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair by Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian

Get full text

Clinical and genetic aspects of KBG syndrome by Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton-Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury-Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah

Get full text

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair by Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian

Get full text

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

Get full text

Evidence for 28 genetic disorders discovered by combining healthcare and research data by Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

Get full text

Prevalence and architecture of de novo mutations in developmental disorders by McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

Get full text

Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer by Castro, Elena, Goh, Chee, Leongamornlert, Daniel, Saunders, Ed, Tymrakiewicz, Malgorzata, Dadaev, Tokhir, Govindasami, Koveela, Guy, Michelle, Ellis, Steve, Frost, Debra, Bancroft, Elizabeth, Cole, Trevor, Tischkowitz, Marc, Kennedy, M. John, Eason, Jacqueline, Brewer, Carole, Evans, D. Gareth, Davidson, Rosemarie, Eccles, Diana, Porteous, Mary E, Douglas, Fiona, Adlard, Julian, Donaldson, Alan, Antoniou, Antonis C, Kote-Jarai, Zsofia, Easton, Douglas F, Olmos, David, Eeles, Rosalind

Get full text

Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer by Rebbeck, Timothy R, Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M, Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Nathanson, Katherine L, Kushnir, Anya, Zidan, Jamal, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I, Odunsi, Kunle, Domchek, Susan M, Karlan, Beth Y, Walsh, Christine, Chung, Wendy K, Janavicius, Ramunas, Steele, Linda, Ejlertsen, Bent, Hansen, Thomas v. O, Benitez, Javier, Godino, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Bobolis, Kristie A, Peissel, Bernard, Genuardi, Maurizio, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Fostira, Florentia, Frost, Debra, Platte, Radka, Davidson, Rosemarie, Eccles, Diana, Hodgson, Shirley, Porteous, Mary E, Izatt, Louise, Donaldson, Alan, Ellis, Steve, Schmutzler, Rita Katharina, Becker, Alexandra, Engel, Christoph, Mundhenke, Christoph, Niederacher, Dieter, Fleisch, Markus, Sutter, Christian, Gadzicki, Dorothea, Varon-Mateeva, Raymonda, Gehrig, Andrea, Weber, Bernhard H, Mazoyer, Sylvie, Gauthier-Villars, Marion, Peyrat, Jean-Philippe, Muller, Danièle, De Paepe, Anne, De Leeneer, Kim, Piedmonte, Marion, Rodriguez, Gustavo, Blank, Stephanie V, Azodi, Masoud, Phillips, Kelly-Anne, de la Hoya, Miguel, Romero, Atocha, Aittomäki, Kristiina, Oosterwijk, Jan C, Wijnen, Juul T, Ausems, Margreet G. E. M, Aalfs, Cora M, Kwong, Ava, Darder, Esther, Blanco, Ignacio, Durda, Katarzyna, Sukiennicki, Grzegorz, Byrski, Tomasz, Toloczko-Grabarek, Aleksandra, Arason, Adalgeir, Laframboise, Rachel, Agata, Simona, Lee, Min Hyuk, Park, Sue K, Lindor, Noralane M, Tischkowitz, Marc, Vijai, Joseph, Offit, Kenneth, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F, Pfeiler, Georg, Senter, Leigha, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Teo, Soo-Hwang, Hulick, Peter J

Get full text

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes by Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R, Allen, Jamie, Kristensen, Vessela N, Kar, Siddhartha, Pooley, Karen A, Dennis, Joe, Michailidou, Kyriaki

Request full text

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders by Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.

Get full text

Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences by Baker, Kate, Devine, Rory T., Ng-Cordell, Elise, Raymond, F. Lucy, Hughes, Claire

Get full text

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer by Ferreira, Manuel A., Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Barnes, Daniel R., Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Campa, Daniele, Campbell, Ian, Canzian, Federico, Carter, Jonathan, Castelao, Jose E., Chang-Claude, Jenny, Couch, Fergus J., Cox, Angela, Cross, Simon S., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Dörk, Thilo, Ejlertsen, Bent, Engel, Christoph, Eriksson, Mikael, Fletcher, Olivia, Flyger, Henrik, Frost, Debra, Gabrielson, Marike, Gapstur, Susan M., Garber, Judy, García-Sáenz, José A., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., González-Neira, Anna, Gronwald, Jacek, Guénel, Pascal, Hall, Per, Hamann, Ute, He, Wei, Hulick, Peter J., Humphreys, Keith, Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul A., John, Esther M., Johnson, Nichola, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna I., Jones, Michael E., Konstantopoulou, Irene, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lindström, Sara, Manoochehri, Mehdi, Margolin, Sara, McGuffog, Lesley, Michailidou, Kyriaki, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Nevelsteen, Ines, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Park-Simon, Tjoung-Won, Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Poppe, Bruce, Presneau, Nadege, Risch, Harvey A., Saloustros, Emmanouil, Sanden, Kristin, Simard, Jacques, Singer, Christian F., Soucy, Penny, Spinelli, John J., Spurdle, Amanda B., Taylor, Jack A., Thöne, Kathrin, Toland, Amanda E., Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van Rensburg, Elizabeth J., Weitzel, Jeffrey N., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Beesley, Jonathan

Get full text

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants by Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

Get full text

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer by Ruark, Elise, Snape, Katie, Humburg, Peter, Loveday, Chey, Bajrami, Ilirjana, Brough, Rachel, Rodrigues, Daniel Nava, Renwick, Anthony, Seal, Sheila, Ramsay, Emma, Duarte, Silvana Del Vecchio, Rivas, Manuel A., Warren-Perry, Margaret, Zachariou, Anna, Campion-Flora, Adriana, Hanks, Sandra, Murray, Anne, Pour, Naser Ansari, Douglas, Jenny, Gregory, Lorna, Rimmer, Andrew, Walker, Neil M., Yang, Tsun-Po, Adlard, Julian W., Barwell, Julian, Berg, Jonathan, Brady, Angela F., Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Eccles, Diana, Evans, D. Gareth, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J., Paterson, Joan, Porteous, Mary, Rogers, Mark T., Shanley, Susan, Walker, Lisa, Gore, Martin, Houlston, Richard, Brown, Matthew A., Caufield, Mark J., Deloukas, Panagiotis, McCarthy, Mark I., Todd, John A., Turnbull, Clare, Reis-Filho, Jorge S., Ashworth, Alan, Antoniou, Antonis C., Lord, Christopher J., Donnelly, Peter, Rahman, Nazneen

Get full text

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

Get full text

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

Get full text