Search Results - Donaldson, Helen E

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    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

    Published in Nature (London)
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    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.

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    Ensembl 2023 by Martin, Fergal J, Amode, M Ridwan, Aneja, Alisha, Austine-Orimoloye, Olanrewaju, Azov, Andrey G, Barnes, If, Becker, Arne, Bennett, Ruth, Berry, Andrew, Bhai, Jyothish, Bhurji, Simarpreet Kaur, Bignell, Alexandra, Boddu, Sanjay, Branco Lins, Paulo R, Brooks, Lucy, Ramaraju, Shashank Budhanuru, Charkhchi, Mehrnaz, Cockburn, Alexander, Da Rin Fiorretto, Luca, Davidson, Claire, Dodiya, Kamalkumar, Donaldson, Sarah, El Houdaigui, Bilal, El Naboulsi, Tamara, Fatima, Reham, Giron, Carlos Garcia, Genez, Thiago, Ghattaoraya, Gurpreet S, Martinez, Jose Gonzalez, Guijarro, Cristi, Hardy, Matthew, Hollis, Zoe, Hourlier, Thibaut, Hunt, Toby, Kay, Mike, Kaykala, Vinay, Le, Tuan, Lemos, Diana, Marques-Coelho, Diego, Marugán, José Carlos, Merino, Gabriela Alejandra, Mirabueno, Louisse Paola, Mushtaq, Aleena, Hossain, Syed Nakib, Ogeh, Denye N, Sakthivel, Manoj Pandian, Parker, Anne, Perry, Malcolm, Piližota, Ivana, Prosovetskaia, Irina, Pérez-Silva, José G, Salam, Ahamed Imran Abdul, Saraiva-Agostinho, Nuno, Schuilenburg, Helen, Sheppard, Dan, Sinha, Swati, Sipos, Botond, Stark, William, Steed, Emily, Sukumaran, Ranjit, Sumathipala, Dulika, Suner, Marie-Marthe, Surapaneni, Likhitha, Sutinen, Kyösti, Szpak, Michal, Tricomi, Francesca Floriana, Urbina-Gómez, David, Veidenberg, Andres, Walsh, Thomas A, Walts, Brandon, Wass, Elizabeth, Willhoft, Natalie, Allen, Jamie, Alvarez-Jarreta, Jorge, Chakiachvili, Marc, Flint, Bethany, Giorgetti, Stefano, Haggerty, Leanne, Ilsley, Garth R, Loveland, Jane E, Moore, Benjamin, Mudge, Jonathan M, Tate, John, Thybert, David, Trevanion, Stephen J, Winterbottom, Andrea, Frankish, Adam, Hunt, Sarah E, Ruffier, Magali, Cunningham, Fiona, Dyer, Sarah, Finn, Robert D, Howe, Kevin L, Harrison, Peter W, Yates, Andrew D, Flicek, Paul

    Published in Nucleic acids research
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    Adjunctive rifampicin for Staphylococcus aureus bacteraemia (ARREST): a multicentre, randomised, double-blind, placebo-controlled trial by Scarborough, Matthew, Wilson, Peter, Auckland, Cressida, Guleri, Achyut, Sutton, Julian, McWhinney, Paul, Harvey, David, Jeyaratnam, Dakshika, Hopkins, Susan, Walker, A Sarah, Scarborough, Matthew, Peto, Leon, Pill, Gemma, Young, Bernadette, Liu, Elian, Rylance-Knight, Lydia, Edgeworth, Jonathan D, Patel, Amita, Anson, Jim, Lewis, Joseph, Folb, Jonathan, Dyas, Sarah, Allsop, Hannah, Carwithen, Leanne, Eglinton, Charlotte, Mynes, Tracey, Yabsley, Leona, Rowson, Carlene, Moll, Sarah, Edwards, Maria, Bailey, Cheryl, Islam, Gayti, Walker, Colin, Porges, Alison, Sargent, Tenessa, de Gordoa, Laura Ortiz-Ruiz, Martin, Sebastien, Shaw, Sephora, Cole, Maggie, Gihawi, Abraham, Bedford, Luke, Mariolis, Ilias, Cain, Martyn, Bellamy, Richard, Wong, Jason, Vassallo, Helen, Boyce, Andrea, Reyes, Anna, Williams, Joanne, Pettifer, Teresa, McCadden, Angela, Mepham, Stephen, Potter, Alison, Todd, Shirley, Colville, Alaric, Morgan, Marina, Minton, Jane, Cook, Bernadette, Abberley, Nadine, Allen, Joanna, Lal, Pankaj, Harrison, Melanie, O'Neil, Laura, Briggs, Jack, Flegg, Peter, Alam, Mazhar, Mathews, Asha, Sheehan, Sharon, Yogo, Noah, Jenkins, Neil, Shabangu, Vusumuzi, Munang, Melinda, Sangombe, Mirriam, White, Helena, Coleman, Stephen, Deane, Jill, Nendick, Richard, Marshall, Adele, Matheson-Smith, Tracy, Sloss, John, Ftika, Lemonia, Kean, Miranda, Andrews, Caroline, Andrews, Janet, Romans, Belinda, Reed, Robert, Jacob, Reni, Fair, Alison, Ripalda, Kate, Cotter, Luis, Gradwell, Janine, Hetherington, Emily, Brewer, Chris, Masters, Leslie, Wilson, Jonathan, Crossman, Samantha, Warner, Bev, Tarbotton, Clare, Russell, Charlotte, Otiko, Damilola

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    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

    Published in Nature communications
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    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.

    Published in Nature communications
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    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

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    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia by Reich, Adi, Cross, J. Helen, Scheffer, Ingrid E., Krishnappa, Netravathi, Awada, Jana, Baralle, Diana, Bernhard, Birgitta, Clasper, Susan, Clayton-Smith, Jill, Cresswell, Lara, Donaldson, Alan, Ellis, Ian, Gaunt, Lorraine, He, Liu, Hewitt, Sarah, Hurst, Jane, Kirk, Claire, Kivuva, Emma, Kumar, Dhavendra, Mansour, Sahar, McCann, Emma, McKee, Shane, Mugalaasi, Hood, Murphy, Helen, Newbury-Ecob, Ruth, Pilz, Daniela T., Pollard, Martin, Pridham, Abigail, Saggar, Anand, Scott, Richard, Shearing, Emma, Smithson, Sarah, Sneddon, Linda, Suri, Mohnish, Tatton-Brown, Kate, Thomson, Jenny, Torokwa, Audrey, Varghese, Vinod, Yau, Michael, Artigas, Maria Soler, Boustred, Chris, Evans, David, Flicek, Paul, Hart, Deborah, Langford, Cordelia, Lawson, Daniel, Li, Rui, O'Donnovan, Michael, Parker, Victoria, Parr, Jeremy R., Paunio, Tiina, Rehnström, Karola, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Williamson, Kathleen A., Wong, Kim, Alachkar, Hana, Ambegaonkar, Gautum, Attwood, Antony, Austin, Steve, Bennett, David, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bradley, John R., Browning, Michael, Clement, Emma, Doffinger, Rainer, Drewe, Elizabeth, Frary, Amy, Ghataorhe, Pavandeep K., Greenhalgh, Alan, Hackett, Scott, Hadinnapola, Charaka, Heemskerk, Johan W.M., Humbert, Marc, James, Roger, Krishnakumar, Deepa, Lawrie, Allan, Lentaigne, Claire, Maimaris, Jesmeen, Maw, Anna, Megy, Karyn, Moledina, Shahin, Morrell, Nicholas, Nejentsev, Sergey, Polwarth, Gary, Quinti, Isabella, Raymond, F. Lucy, Samarghitean, Crina, Sanchis-Juan, Alba, Southgate, Laura, Stauss, Hans, Thrasher, Adrian, Trembath, Richard, Turro, Ernest, Williamson, Catherine, Yeatman, Nigel, Millichap, John J.

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