De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Authors: Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W., Laffan, Michael A., Maher, Eamonn, Markus, Hugh S., Morrell, Nicholas W., Ouwehand, Willem H., Perry, David J., Raymond, F. Lucy, Roberts, Irene, Smith, Kenneth G.C., Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R., Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Penkett, Christopher J., Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer M., Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K., Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Janine, Collins, Peter, Erber, Wendy N., Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gebhart, Johanna, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Gresele, Paolo, Hart, Daniel, Heemskerk, Johan W.M., Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M., Lambert, Michele P., Lentaigne, Claire, Liesner, Ri, Makris, Mike, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M., Mumford, Andrew, Nurden, Paquita, Payne, Jeanette, Pasi, John, Peerlinck, Kathelijne, Revel-Vilk, Shoshana, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Stubbs, Matthew, Tait, R. Campbell, Talks, Kate, Thachil, Jecko, Toh, Cheng-Hock, Turro, Ernest, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Watson, Henry, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Rayner-Matthews, Paula, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Watt, Christopher, Whitehorn, Deborah, Attwood, Antony, Daugherty, Louise, Deevi, Sri V.V., Halmagyi, Csaba, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Bleda, Marta, Carss, Keren J., Gräf, Stefan, Haimel, Matthias, Lango-Allen, Hana, Richardson, Sylvia, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Anderson, Julie, Bryson, Christine, Carmichael, Jenny, McJannet, Coleen, Stock, Sophie, Allen, Louise, Ambegaonkar, Gautum, Armstrong, Ruth, Arno, Gavin, Bitner-Glindzicz, Maria, Brady, Angie, Canham, Natalie, Chitre, Manali, Clement, Emma, Clowes, Virginia, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Firth, Helen, Flinter, Frances, French, Courtney, Gardham, Alice, Ghali, Neeti, Gissen, Paul, Grozeva, Detelina, Henderson, Robert, Hensiek, Anke, Holden, Simon, Holder, Muriel, Holder, Susan, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Lees, Melissa, MacLaren, Robert, Maw, Anna, Mehta, Sarju, Michaelides, Michel, Moore, Anthony, Murphy, Elaine, Park, Soo-Mi, Parker, Alasdair, Patch, Chris, Paterson, Joan, Rankin, Julia, Reid, Evan, Rosser, Elisabeth, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Scott, Richard, Sohal, Aman, Stein, Penelope, Thomas, Ellen, Thompson, Dorothy, Tischkowitz, Marc, Vogt, Julie, Wakeling, Emma, Wassmer, Evangeline, Webster, Andrew, Ali, Sonia, Ali, Souad, Boggard, Harm J., Church, Colin, Coghlan, Gerry, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, DaCosta, Rosa, Dormand, Natalie, Eyries, Mélanie, Gall, Henning, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Ardi, Gibbs, J. Simon R., Girerd, Barbara, Greenhalgh, Alan, Hadinnapola, Charaka, Houweling, Arjan C., Humbert, Marc, in’t Veld, Anna Huis, Kennedy, Fiona, Kiely, David G., Kovacs, Gabor, Lawrie, Allan, Ross, Rob V. Mackenzie, Machado, Rajiv, Masati, Larahmie, Meehan, Sharon, Moledina, Shahin, Montani, David, Othman, Shokri, Peacock, Andrew J., Pepke-Zaba, Joanna, Pollock, Val, Polwarth, Gary, Ranganathan, Lavanya, Rhodes, Christopher J., Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Soubrier, Florent, Southgate, Laura, Scelsi, Laura, Suntharalingam, Jay, Tan, Yvonne, Toshner, Mark, Treacy, Carmen M., Trembath, Richard, Vonk Noordegraaf, Anton, Walker, Sara, Wanjiku, Ivy, Wharton, John, Wilkins, Martin, Wort, Stephen J., Yates, Katherine, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Staples, Emily, Stauss, Hans, Thaventhiran, James, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, Yong, Patrick, Ancliff, Phil, Babbs, Christian, Layton, Mark, Louka, Eleni, McGowan, Simon, Mead, Adam, Roy, Noémi, Chambers, Jenny, Dixon, Peter, Estiu, Cecelia, Hague, Bill, Marschall, Hanns-Ulrich, Simpson, Michael, Chong, Sam, Emmerson, Ingrid, Ginsberg, Lionel, Gosal, David, Hadden, Rob, Horvath, Rita, Mahdi-Rogers, Mohamed, Manzur, Adnan, Marshall, Andrew, Matthews, Emma, McCarthy, Mark, Reilly, Mary, Renton, Tara, Rice, Andrew, Themistocleous, Andreas, Vale, Tom, Van Zuydam, Natalie, Walker, Suellen, Ormondroyd, Liz, Hudson, Gavin, Wei, Wei, Yu Wai Man, Patrick, Whitworth, James, Afzal, Maryam, Colby, Elizabeth, Saleem, Moin, Alavijeh, Omid S., Cook, H. Terry, Johnson, Sally, Levine, Adam P., Wong, Edwin K.S., Tan, Rhea, Boycott, Kym M., MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, Dyment, David, Ito, Yoko, Duarte, Sofia T., Hartley, Taila, Keren, Boris, Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Kernohan, Kristin D., Dyack, Sarah

Source: In The American Journal of Human Genetics 5 July 2018 103(1):144-153

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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Authors: Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis in’t, Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Martin, Jennifer, Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Carss, Keren, Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, De Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, Mélanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Man, Patrick Yu Wai, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, MackenzieRoss, Rob V., Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, DaCosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, Lynch, Andy G., Furie, Bruce, Schulman, Sol

Source: Farmery, J. H. R., M. L. Smith, A. Huissoon, A. Furnell, A. Mead, A. P. Levine, A. Manzur, et al. 2018. “Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.” Scientific Reports 8 (1): 1300. doi:10.1038/s41598-017-14403-y. http://dx.doi.org/10.1038/s41598-017-14403-y.

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Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778012/pdf/; Scientific Reports

Access URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:34868803