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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

by 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.
Published in American journal of human genetics (05.01.2017)

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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

by Kindle, Gerhard, Rusch, Stephan, Seppänen, Mikko R.J., Mahlaoui, Nizar, Kojić, Marina, Seidel, Markus G., Smet, Julie, Milota, Tomas, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, Lotfy, Sohilla, Meshaal, Safa S., Sobh, Ali, Courteille, Virginie, Albert, Michael H., Atschekzei, Faranaz, Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Boetticher, Benedikt, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Fasshauer, Maria, Fecker, Gisela, Goldacker, Sigune, Graf, Dagmar, Hanitsch, Leif Gunnar, Henes, Joerg C., Holzer, Ursula, Holzinger, Dirk, Joean, Oana, Kobbe, Robin, Körholz, Julia, Liese, Johannes G., Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Scheible, Raphael, Schmalzing, Marc, Schwarz, Klaus, Tenbrock, Klaus, Wasmuth, Jan-Christian, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Goda, Vera, Kriván, Gergely, Abolhassani, Hassan, Feighery, Conleth, Ryan, Paul, Cesaro, Simone, Gambineri, Eleonora, Pignata, Claudio, Ricci, Silvia, Vacca, Angelo, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Esteves, Isabel, Neves, João Farela, Capilna, Brindusa Ruxandra, Jesenak, Milos, Petrovicova, Otilia, Kopač, Peter, Gonzalez-Granado, Luis Ignacio, Parra-Martínez, Alba, Sánchez-Ramón, Silvia, Solanich, Xavier, Ekwall, Olov, Fasth, Anders, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Steiner, Urs C., Bredius, Robbert G., Potjewijd, Judith, van Aerde, Koen J., Aydemir, Sezin, Dogu, Figen, Kiykim, Ayca, Kutukculer, Necil, UNAL, Ekrem, Boyarchuk, Oksana, Alachkar, Hana, Baxendale, Helen E., Coulter, Tanya I., Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Waruiru, Catherine, Bourne, Helen
Published in Journal of allergy and clinical immunology (01.11.2021)

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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

by Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher
Published in Journal of allergy and clinical immunology (01.10.2018)

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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

by Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy
Published in Journal of allergy and clinical immunology (01.10.2020)

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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.
Published in American journal of human genetics (02.05.2019)

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

by West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.
Published in American journal of human genetics (05.07.2018)

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

by 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
Published in American journal of human genetics (05.07.2018)

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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

by 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.
Published in American journal of human genetics (02.02.2017)

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