New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome by Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

Get full text

Initiating an undiagnosed diseases program in the Western Australian public health system by Baynam, Gareth, Broley, Stephanie, Bauskis, Alicia, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Schofield, Lyn, Helmholz, Petra, Palmer, Richard, Kung, Stefanie, Walker, Caroline E, Molster, Caron, Lewis, Barry, Mina, Kym, Beilby, John, Pathak, Gargi, Poulton, Cathryn, Groza, Tudor, Zankl, Andreas, Roscioli, Tony, Dinger, Marcel E, Mattick, John S, Gahl, William, Groft, Stephen, Tifft, Cynthia, Taruscio, Domenica, Lasko, Paul, Kosaki, Kenjiro, Wilhelm, Helene, Melegh, Bela, Carapetis, Jonathan, Jana, Sayanta, Chaney, Gervase, Johns, Allison, Owen, Peter Wynn, Daly, Frank, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack

Get full text

A flexible computational pipeline for research analyses of unsolved clinical exome cases by Lassmann, Timo, Francis, Richard W., Weeks, Alexia, Tang, Dave, Jamieson, Sarra E., Broley, Stephanie, Dawkins, Hugh J. S., Dreyer, Lauren, Goldblatt, Jack, Groza, Tudor, Kamien, Benjamin, Kiraly-Borri, Cathy, McKenzie, Fiona, Murphy, Lesley, Pachter, Nicholas, Pathak, Gargi, Poulton, Cathryn, Samanek, Amanda, Skoss, Rachel, Slee, Jennie, Townshend, Sharron, Ward, Michelle, Baynam, Gareth S., Blackwell, Jenefer M.

Get full text

Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years by Ireland, Penelope J, Johnson, Sarah, Donaghey, Samantha, Johnston, Leanne, Ware, Robert S, Zankl, Andreas, Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron, McGill, James

Get full text

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study by Page, Elizabeth C, Brook, Mark N, McHugh, Jana, Jones, Ann-Britt, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Grindedal, Eli Marie, Stormorken, Astrid, Hanson, Helen, James, Paul, Syngal, Sapna, Barwell, Julian, Teixeira, Manuel R, Macrae, Finlay A, Pachter, Nicholas, Buys, Saundra, Cooney, Kathleen A, Taylor, Amy, Hogben, Matthew, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Hamdy, Freddie C, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Collier, Rebecca, Adlard, Julian, Alfonso, Rosa, Ball, Darran, Benton, Barbara, Biller, Leah, Burgess, Lucy, Callard, Alice, Carter, Vanda, Catanzaro, Mario, Compton, Cecilia, Cornford, Philip, Costello, Philandra, Coulier, Laura, Douglas, Fiona, Douglas, Emma, Ellery, Natalie, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Genova, Elena, George, Angela, Georgiou, Demetra, Goff, Sally, Goldgar, David, Goodman, Selina, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Hart, Rachel, Hawkes, Lara, Hilario, Kathrine, Hulick, Peter, Jenkins, Sharon, Josefsberg Ben-Yehoshua, Sagi, Kinsella, Netty, Kumar, Pardeep, Leibovici, Dan, Martin, Phoebe, Murphy, Morgan, Mzazi, Shumi, Nadolski, Maria, Park, Linda, Patel, Nafisa, Paulo Souto, João, Peixoto, Ana, Petelin, Lara, Poile, Charlotte, Purnell, Helen, Rankin, Brigette, Renton, Caroline, Sajoo, Anaar, Saunders, Kathryn, Searle, Anne, Sehra, Ravinder, Shackleton, Kylie, Shaw, Adam, Shevrin, Daniel, Siguake, Kas, Snadden, Lesley, Sorrentino, Margherita, Thomas, Maggie, Townshend, Sharron, Tricker, Karen, Tripathi, Vishakha, Valdagni, Riccardo, Verdon, Lizzie, Vogel, Kristen, Watford, Amy, Offman, Judith

Get full text

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition by Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.

Get full text

Genome-wide association study identifies novel breast cancer susceptibility loci by Meyer, Kerstin B, Pharoah, Paul D. P, Kataja, Vesa, Haiman, Christopher A, Lissowska, Jolanta, Ko, Yon-Dschun, Hall, Per, Olson, Janet E, Beesley, Jonathan, Zhang, Jinghui, Fagerholm, Rainer, Cox, David G, Meijers-Heijboer, Hanne, Wang, Hui-Chun, Hankinson, Susan E, Field, Helen, Rahman, Nazneen, Le Marchand, Loic, Peplonska, Beata, Gaborieau, Valerie, Hunter, David J, Gonzalez-Neira, Anna, Chenevix-Trench, Georgia, Kang, Daehee, Dörk, Thilo, Jacobi, Catharina E, Bojesen, Stig E, Nordestgaard, Børge G, Alexander, Bruce H, Shen, Chen-Yang, Bogdanova, Natalia, Pooley, Karen A, Brock, Ian W, Goode, Ellen L, Healey, Catherine S, Stratton, Michael R, Cox, David R, Dunning, Alison M, Odefrey, Fabrice, Wu, Pei-Ei, Noh, Dong-Young, Morrison, Jonathan, Bowman, Richard, Cox, Angela, Fletcher, Olivia, Luben, Robert, Couch, Fergus J, Ballinger, Dennis G, Brennan, Paul, Peto, Julian, Tollenaar, Rob A. E. M, Hopper, John L, Easton, Douglas F, Seal, Sheila, Eerola, Hannaleena, Ponder, Bruce A. J, Hartikainen, Jaana, Reed, Malcolm W. R, Klijn, Jan G. M, Wareham, Nicholas, Kosma, Veli-Matti, Low, Yen-Ling, Doody, Michele M, Eccles, Diana, Brinton, Louise, Brauch, Hiltrud, Spurdle, Amanda B, Sigurdson, Alice J, Sangrajrang, Suleeporn, Hamann, Ute, Ahn, Sei-Hyun, Schürmann, Peter, Schroen, Chris, McCredie, Margaret, Evans, D. Gareth, Milne, Roger L, Nevanlinna, Heli, Devilee, Peter, Justenhoven, Christina, Thompson, Deborah, Mannermaa, Arto, Day, Nicholas E, Rivadeneira, Fernando, Kolonel, Laurence K, Benitez, Javier, Ribas, Gloria, Axelsson, Christen K, Giles, Graham G, Yoo, Keun-Young, Chen, Xiaoqing, Southey, Melissa, Uitterlinden, André, Liu, Jianjun, Johnson, Nichola, van den Ouweland, Ans, Chanock, Stephen, MacPherson, Gordon, Henderson, Brian E, Ahmed, Shahana, Wedren, Sara

Get full text

The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers by Brook, Mark N., Pope, Jennifer, Helfand, Brian T., Salinas, Monica, Buys, Saundra S., Davidson, Rosemarie, Side, Lucy, Cruellas, Mara, Ballestero, Eduard Perez, Hogben, Matthew, Saya, Sibel, Eyfjord, Jorunn, Falconer, Alison, Hamdy, Freddie C., Mitra, Anita, Wilson, Penny, Mitchell, Gillian, Shanley, Sue, Lam, Jimmy, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Stricker, Phillip, Bowman, Michelle, Patel, Manish, Morton, Catherine, Susman, Rachel, Townshend, Sharron, Pachter, Nicholas, Gleeson, Margaret, Patterson, Briony, Swindle, Peter, Jeanjean, Marie, Tondering, Majbritt Kure, Schmutzler, Rita, Luedtke‐Heckenkamp, Kerstin, Herold, Natalie, Zastrow, S., Stefansdottir, Vigdis, Kowtal, Pradnya, Cahill, Aisling, Catanzaro, Mario, Sorrentino, Margherita, Asperen, Christi, Adank, Muriel A., Mæhle, Lovise, Hanslien, Eldbjørg, Maia, Sofia, Gonçalves, Nuno, Copakova, Lucia, Zgajnar, Janez, Ramón y Cajal, Teresa, Fisas, David, Hjälm‐Eriksson, Marie, George, Angela, Wiggins, Jennifer, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Bulman, Barbara, Mercer, Catherine, Sands, Victoria, Stobie, Emma, Manalo, Merrie, Brice, Glen, Mencias, Mark, Potter, Alison, Thomas, Maggie, Adams, Lisa, Ashman, Sophie, Douglas, Fiona, Donaldson, Alan, Turnbull, Clare, Clowes, Virginia, Cummings, Carole, Bartlett, Marion, Adeoye, Toyin, Tidey, Lizzie, Howell, Alice, Hoffman, Jonathan, Islam, Farah, Poile, Charlotte, Johnstone, Anne, Woodward, Anthony, Cornford, Philip, Griffiths, Julie, Rubinstein, Wendy, Davis, John W., Yamamura, Yuko, Bout, C.A., Cornel, E.B., Fernandes, J.G., Jongen‐Huinink, M.M.G.J., Kil, P.J.M., Langbein, S.I., Meier, A.H.P., Naderi, N., Smits, G.A.H.J., Smorenburg, S., Vijverberg, P.

Get full text

The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes? by Li, Dong, Ahrens‐Nicklas, Rebecca C., Baker, Janice, Bhambhani, Vikas, Calhoun, Amy, Cohen, Julie S., Deardorff, Matthew A., Fernández‐Jaén, Alberto, Kamien, Benjamin, Jain, Mahim, Mckenzie, Fiona, Mintz, Mark, Motter, Constance, Niles, Kirsten, Ritter, Alyssa, Rogers, Curtis, Roifman, Maian, Townshend, Sharron, Ward‐Melver, Catherine, Schrier Vergano, Samantha A.

Get full text

Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement by Brereton, Rebecca E., Nickerson, Sarah L., Woodward, Karen J., Edwards, Tracey, Sivamoorthy, Soruba, Ramos Vasques Walters, Fabiana, Chabros, Vicki, Marchin, Vanessa, Grumball, Tanya, Kennedy, Dagmara, Uzaraga, Joan, Peverall, Joanne, Arscott, Gillian, Beilby, John, Choong, Catherine S., Townshend, Sharron, Azmanov, Dimitar N.

Get full text

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features by Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

Get full text

Development in children with achondroplasia: a prospective clinical cohort study by IRELAND, PENELOPE J, DONAGHEY, SAMANTHA, McGILL, JAMES, ZANKL, ANDREAS, WARE, ROBERT S, PACEY, VERITY, AULT, JENNY, SAVARIRAYAN, RAVI, SILLENCE, DAVID, THOMPSON, ELIZABETH, TOWNSHEND, SHARRON, JOHNSTON, LEANNE M

Get full text

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study by Davidson, Aimee L, Dressel, Uwe, Norris, Sarah, Canson, Daffodil M, Glubb, Dylan M, Fortuno, Cristina, Hollway, Georgina E, Parsons, Michael T, Vidgen, Miranda E, Holmes, Oliver, Koufariotis, Lambros T, Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E, Pickett, Hilda A, Al-Shinnag, Mohammad K, Austin, Rachel L, Burke, Jo, Cops, Elisa J, Nichols, Cassandra B, Goodwin, Annabel, Harris, Marion T, Higgins, Megan J, Ip, Emilia L, Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L, Millward, Michael W, Monnik, Melissa J, Pachter, Nicholas S, Ragunathan, Abiramy, Susman, Rachel D, Townshend, Sharron L, Trainer, Alison H, Troth, Simon L, Tucker, Katherine M, Wallis, Mathew J, Walsh, Maie, Williams, Rachel A, Winship, Ingrid M, Newell, Felicity, Tudini, Emma, Pearson, John V, Poplawski, Nicola K, Mar Fan, Helen G, James, Paul A, Spurdle, Amanda B, Waddell, Nicola, Ward, Robyn L

Get full text

Functional performance in young Australian children with achondroplasia by IRELAND, PENELOPE JANE, MCGILL, JAMES, ZANKL, ANDREAS, WARE, ROBERT S, PACEY, VERITY, AULT, JENNY, SAVARIRAYAN, RAVI, SILLENCE, DAVID, THOMPSON, ELIZABETH M, TOWNSHEND, SHARRON, JOHNSTON, LEANNE MARIE

Get full text

Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD) by McCabe, Mark J., Hu, Youli, Gregory, Louise C., Gaston-Massuet, Carles, Alatzoglou, Kyriaki S., Saldanha, José W., Gualtieri, Angelica, Thankamony, Ajay, Hughes, Ieuan, Townshend, Sharron, Martinez-Barbera, Juan-Pedro, Bouloux, Pierre-Marc, Dattani, Mehul T.

Get full text

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations by Bancroft, Elizabeth K., Saya, Sibel, Page, Elizabeth C., Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J., Helfand, Brian T., Hutten Selkirk, Christina, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M., Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S., Eeles, Rosalind A., Aaronson, Neil K.

Get full text

C1q nephropathy associated with deletion of long arm of chromosome 7 by Judkins, Agnieshka, Townshend, Sharron, Willis, Frank

Get full text

Letters to the Editor by Judkins, Agnieshka, Townshend, Sharron, Willis, Frank

Get full text

Letters to the Editor by Judkins, Agnieshka, Townshend, Sharron, Willis, Frank

Get full text

Letters to the Editor by Judkins, Agnieshka, Townshend, Sharron, Willis, Frank

Get full text