The predicted role of steric specificity in crowding-mediated effects on reversible biomolecular association von Powers, J D, Castle, B T, Odde, D J

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Large-scale discovery of novel genetic causes of developmental disorders von van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

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Germline mutations in RAD51D confer susceptibility to ovarian cancer von Rahman, Nazneen, Loveday, Chey, Turnbull, Clare, Ramsay, Emma, Hughes, Deborah, Ruark, Elise, Frankum, Jessica R, Bowden, Georgina, Kalmyrzaev, Bolot, Warren-Perry, Margaret, Snape, Katie, Adlard, Julian W, Barwell, Julian, Berg, Jonathan, Brady, Angela F, Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, 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, Eccles, Diana, Evans, D Gareth, Renwick, Anthony, Seal, Sheila, Lord, Christopher J, Ashworth, Alan, Reis-Filho, Jorge S, Antoniou, Antonis C

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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes von Loveday, C., Garrett, A., Hanks, S., Berg, J., Brady, A.F., Cook, J., Donaldson, A., Douglas, F., Greenhalgh, L., Miedzybrodzka, Z., Morrison, P.J., Paterson, J., Ahmed, M., Bardsley, C., Barton, D., Bartlett, M., Baxter, L., Belk, R., Berg, J., Brant, S., Brewer, C., Brice, G., Brooks, C., Campbell, J., Castle, B., Cole, T., Collins, A., Cruger, D., Cummings, C., Davidson, R., Day, L., Dolling, C., Douglas, F., Drummond, S., Edwards, M., Edwards, E., Edwardson, J., Elmslie, F., Evans, G., Ghali, N., Greenhalgh, L., Henderson, A., Hodgson, S., Houlston, R.S., Hunt, V., Izatt, L., Jacobs, C., Jobson, I., Kennedy, M.J., Kightley, C., Kohut, K., Kumar, A., Levene, S., Logan, P., Magee, A., Mansour, S., McBride, D., McEntagart, M., McKeown, C., McLeod, D., Melville, A., Miedzybrodzka, Z., Murday, V., Myhill, K., Myring, J., Pearson, P., Pichert, G., Platt, K., Porteous, M., Protheroe, L., Pugh, S., Randhawa, K., Riddick, C., Robertson, L., Robinson, A., Rowe, S., Schofield, A., Scott, G., Sharif, S., Shaw, A., Shaw, J., Shea-Simonds, J., Side, L., Simon, K., Slater, S., Smith, K., Soloway, J., Steel, M., Stewart, H., Thomas, M., Turner, H., Wakeling, E., Watt, C., Watts, S., Whyte, C., Eccles, D., Evans, D.G., Hanson, H., Houlston, R.S., Turnbull, C.

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth von Loveday, Chey, Tatton-Brown, Katrina, Clarke, Matthew, Westwood, Isaac, Renwick, Anthony, Ramsay, Emma, Nemeth, Andrea, Campbell, Jennifer, Joss, Shelagh, Gardner, McKinlay, Zachariou, Anna, Elliott, Anna, Ruark, Elise, van Montfort, Rob, Rahman, Nazneen

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects von Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivier, Fritz, Ann-Kristina, Wolfer, David P, Schröter, Aileen, Bosshard, Giovanna, Rudin, Markus, Koester, Christina, Crestani, Florence, Seebeck, Petra, Boddaert, Nathalie, Prescott, Katrina, Hines, Rochelle, Moss, Steven J, Fritschy, Jean-Marc, Munnich, Arnold, Amiel, Jeanne, Brown, Steven A, Tyagarajan, Shiva K, Colleaux, Laurence

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data von Aitken, Stuart, McRae, Jeremy, Kini, Usha, Parker, Michael J., Joss, Shelagh, Scott, Richard H., Hurles, Matthew E., FitzPatrick, David R., Morley, K.I., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Krishnappa, N., Mason, L.E., Middleton, A., Prigmore, E., Tivey, A.R., Akawi, N., Andrews, R., Armstrong, R., Balasubramanian, M., Banerjee, R., Baty, D., Bernhard, B., Blair, E., Bourn, D., Brady, A., Brewer, C., Burn, J., Connell, F., Cooper, N., Cross, G., Dixit, A., Ellis, P., Fendick, T., Fisher, R., Greenhalgh, L., Hawkins, R., Hobson, E., Holden, S., Holder, S., Hurst, J., Ingram, S., Jarvis, J., Johnson, D., Joss, S., Kaemba, B., Kirby, G., Kraus, A., Kumar, D., Lim, D., Lowther, G., Marks, K., Maye, U., McConnell, V., McGowan, R., McMullan, D.J., Metcalfe, K., Mohammed, S., Nevitt, L., Newbury-Ecob, R., Ogilvie, C., Paterson, J., Payne, S., Porteous, D., Raymond, L., Roberts, E., Roberts, G., Roberts, P., Ross, A., Saggar, A., Sandford, R., Schweiger, S., Scott, C., Selby, A., Seller, A., Shears, D., Singzon, R., Smith, B., Sneddon, L., Stewart, F., Stewart, H., Suri, M., Swaminathan, G.J., Sweeney, E., Tolmie, J., Turner, C., Tysoe, C., Vasudevan, P., Vogt, J., Waters, J., Wellesley, D., Widaa, S., Wilcox, S., Williams, N., Yang, F., Wright, C.F., Barrett, J.C., Hurles, M.E.

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BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years von Robertson, L, Hanson, H, Seal, S, Warren-Perry, M, Hughes, D, Howell, I, Turnbull, C, Houlston, R, Shanley, S, Butler, S, Evans, D G, Ross, G, Eccles, D, Tutt, A, Rahman, N

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height von Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, Karen I, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen

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Gene-gene interactions in breast cancer susceptibility von Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Warren-Perry, Margaret, Hughes, Deborah, Elliott, Anna, Pernet, David, Peock, Susan, Adlard, Julian W., Barwell, Julian, Berg, Jonathan, Brady, Angela F., Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, 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, Ahmed, Munaza, Eccles, Diana, Evans, D. Gareth, Donnelly, Peter, Easton, Douglas F., Stratton, Michael R., Rahman, Nazneen

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients von Prattichizzo, Clelia, Macca, Marina, Novelli, Valeria, Giorgio, Giovanna, Barra, Adriano, Franco, Brunella

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Mutation and association analysis of GEN1 in breast cancer susceptibility von Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Hughes, Deborah, Pernet, David, Elliott, Anna, Seal, Sheila, Warren-Perry, Margaret, Gareth Evans, D, Eccles, Diana, Stratton, Michael R, Rahman, Nazneen

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study von Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D'Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella

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Baseline Cytology, Human Papillomavirus Testing, and Risk for Cervical Neoplasia: A 10-Year Cohort Analysis von Sherman, Mark E., Lorincz, Attila T., Scott, David R., Wacholder, Sholom, Castle, Philip E., Glass, Andrew G., Mielzynska-Lohnas, Iwona, Rush, Brenda B., Schiffman, Mark

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Psychiatric Comorbidities and Schizophrenia von Buckley, Peter F., Miller, Brian J., Lehrer, Douglas S., Castle, David J.

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Detecting cervical precancer and reaching underscreened women by using HPV testing on self samples: updated meta-analyses von Arbyn, Marc, Smith, Sara B, Temin, Sarah, Sultana, Farhana, Castle, Philip

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Association between prior tuberculosis disease and dysglycemia within an HIV-endemic, rural South African population von Castle, Alison C, Hoeppner, Susanne S, Magodoro, Itai M, Singh, Urisha, Moosa, Yumna, Bassett, Ingrid V, Wong, Emily B, Siedner, Mark J

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Reassurance against future risk of precancer and cancer conferred by a negative human papillomavirus test von Gage, Julia C, Schiffman, Mark, Katki, Hormuzd A, Castle, Philip E, Fetterman, Barbara, Wentzensen, Nicolas, Poitras, Nancy E, Lorey, Thomas, Cheung, Li C, Kinney, Walter K

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