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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.
Veröffentlicht in American journal of human genetics
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures von Duarte, Sofia T., Charles, Perinne, Pfundt, Rolph, van Bokhoven, Hans, van Ravenswaaij-Arts, Conny, Morrell, Nicholas W., Thrasher, Adrian, Fletcher, Debra, Veltman, Marijke, Davis, John, Frary, Amy, Martin, Jennifer M., Collins, Janine, Favier, Remi, Hart, Daniel, Heemskerk, Johan W.M., Liesner, Ri, Mangles, Sarah, Roughley, Catherine, Tait, R. Campbell, Thachil, Jecko, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Furnell, Abigail, Mapeta, Rutendo, Whitehorn, Deborah, Daugherty, Louise, Deevi, Sri V.V., Hu, Fengyuan, Matser, Vera, Megy, Karyn, Tuna, Salih, von Ziegenweldt, Julie, Haimel, Matthias, Richardson, Sylvia, Rankin, Stuart, Anderson, Julie, Stock, Sophie, Armstrong, Ruth, Bitner-Glindzicz, Maria, Brady, Angie, Clement, Emma, Firth, Helen, Flinter, Frances, French, Courtney, Holder, Muriel, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Mehta, Sarju, Moore, Anthony, Rankin, Julia, Reid, Evan, Scott, Richard, Thomas, Ellen, Wassmer, Evangeline, Creaser-Myers, Amanda, Gall, Henning, Ghataorhe, Pavandeep K., Houweling, Arjan C., in’t Veld, Anna Huis, Ross, Rob V. Mackenzie, Rhodes, Christopher J., Soubrier, Florent, Treacy, Carmen M., Vonk Noordegraaf, Anton, Antrobus, Richard, Arumugakani, Gururaj, Bibi, Shahnaz, Devlin, Lisa, Ghurye, Rohit, Grigoriadou, Sofia, Harper, Lorraine, Herwadkar, Archana, Jolles, Stephen, Kumararatne, Dinakantha, Lorenzo, Lorena, Murng, Sai, Nejentsev, Sergey, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Yong, Patrick, Ancliff, Phil, Layton, Mark, Mead, Adam, Roy, Noémi, Chambers, Jenny, Estiu, Cecelia, Simpson, Michael, Emmerson, Ingrid, McCarthy, Mark, Van Zuydam, Natalie, Afzal, Maryam, Colby, Elizabeth, Boycott, Kym M., Majewski, Jacek, Dyment, David
Veröffentlicht in American journal of human genetics
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration von Arno, Gavin, Zihni, Ceniz, Robson, Anthony G., Fiorentino, Alessia, Black, Graeme, Ponitkos, Nikos, Holder, Graham E., Aitman, Timothy, Alachkar, Hana, Allsup, David, Anderson, Julie, Armstrong, Ruth, Arumugakani, Gururaj, Ashford, Sofie, Bakchoul, Tamam, Bariana, Tadbir K., Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bolton-Maggs, Paula, Brady, Angie, Brown, Matthew, Caulfield, Mark, Chitre, Manali, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Egner, William, Erwood, Marie, Favier, Remi, Flinter, Frances, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gattens, Michael, Ghataorhe, Pavandeep K., Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gordins, Pavel, Greinacher, Andreas, Grigoriadou, Sofia, Hayman, Grant, Henderson, Robert, Henskens, Yvonne, Holden, Simon, Hu, Fengyuan, Jolles, Stephen, Josifova, Dragana, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Linger, Rachel, Machado, Rajiv, Manson, Ania, Markus, Hugh S., Meehan, Sharon, Ouwehand, Willem H., Park, Soo-Mi, Parker, Alasdair, Paterson, Joan, Peerlinck, Kathelijne, Perry, David J., Qasim, Waseem, Rankin, Julia, Rehnstrom, Karola, Roberts, Irene, Roughley, Catherine, Rue-Albrecht, Kevin, Schulze, Harald, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Stephens, Jonathan, Suntharalingam, Jay, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Titterton, Catherine, Toh, Cheng-Hock, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Wakeling, Emma, Warner, Timothy Q., Webster, Andrew, Wilkins, Martin, Young, Tim, Yu, Ping, Webster, Andrew R.
Veröffentlicht in American journal of human genetics
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