Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

por Schon, Katherine, Spasic-Boskovic, Olivera, Brugger, Kim, Graves, Tracey D., Abbs, Stephen, Park, Soo-Mi, Ambegaonkar, Gautam, Armstrong, Ruth
Publicado 2017

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

por Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick
Publicado 2022

The use of temozolomide in paediatric metastatic phaeochromocytoma/paraganglioma: A case report and literature review

por Urquhart, Calum, Fleming, Ben, Harper, Ines, Aloj, Luigi, Armstrong, Ruth, Hook, Liz, Long, Anna-May, Jackson, Claire, Gallagher, Ferdia A., McLean, Mary A., Tarpey, Patrick, Kosmoliaptsis, Vasilis, Nicholson, James, Hendriks, A. Emile J., Casey, Ruth T.
Publicado 2022

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

por Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Publicado 2018

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

por Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Publicado 2021

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

por Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Publicado 2017

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022

Early computed tomography coronary angiography in patients with suspected acute coronary syndrome: randomised controlled trial

por Gray, Alasdair J, Roobottom, Carl, Smith, Jason E, Goodacre, Steve, Oatey, Katherine, O’Brien, Rachel, Storey, Robert F, Curzen, Nick, Keating, Liza, Kardos, Attila, Felmeden, Dirk, Lee, Robert J, Thokala, Praveen, Lewis, Steff C, Newby, David E, Coats, Tim, Archibald, Kenneth, Bell, Graham, Bull, Russell, McCann, Gerry, Mittal, Tarun, Mycock, Rodney, Rudd, James, Gamble, Carrol, Carley, Simon, Padley, Simon, Mills, Nick, Chapman, Andrew, Shah, Anoop, Jones, Mark, Perks, Fergus, Morgan-Hughes, Gareth, Raju, Vikram, Luke, Kym, Kinnon, Andrew, Yerramasu, Ajay, Huggett, Robert, Bulugahapitiya, Sudantha, Din, Jehangir, Mitchell, Andrew, Scott, Anne, Beattie, Anna, Alfakih, Khalid, Brady, Adrian, Jones, Hefin, Connolly, Derek, Rajani, Ronak, Muthusamy, Rangasamy, Smith, Simon, Saif-El-Dean, Abdel-Rahman, Holloway, Ben, Saha, Ansuman, Schmitt, Matthias, Travill, Christopher, Davies, Ceri, Harris, Tim, Roberts, Will, Donnelly, Patrick, Carter, Justin, Irving, John, Vorwerk, Chris, Basu, Ash, Dungu, Jason, McAlindon, Elisa, Hothi, Sandeep, Rosewarne, David, Bapusamy, Arivalagan, Watt, Jonathan, McGroarty, Claire, McKillop,, Graham, Black, Polly, Blackstock, Caroline, Grahamslaw, Julia, Keanie, Collette, MacLeod, Margaret, McLaughlin, Siobhan, Phillips, Alyson, Ritchie, Gillian, Simpson, Kirsty, Odam, Miranda, Williams, Michelle, Pirie, Ewan, Summerside, Janet, Truong, Gordon, Weston, Kirsty, Wooton, Jennifer, Bird, Sarah, Brown, Peter, Chatha, Hridesh, Fletcher, Alan, Hill, Catherine, Mofidi, Shery, Qayyum, Hasan, Sugden, Judith, Wilson, Anna, Jeffrey, Alison, Mwadeyi, Memory, Squire, Rosalyn, Wafer, Peter, Archer, Lesley, Felmeden, Lisa, Gribbin, Guy, Harrison, Sarah, Hughes, Debbie, Keeling, Philip, Mahy, Ian, Summerhayes, Allison, Sutton, Justine, Yonis, Abdullah, Fowler, Susan, McGregor, Amanda, Grey, Karen, Hartley, Tom, Szapiro, David, Dinnel, Lorraine, Sandeman, Dennis, Dean, Julie, Pugh, Amy, Bhuie, Parminder, Briggs, James, Burnett, Claire, Gandy, Abby, Jacques, Nicola, MacGill, Sarah, Speirs, Archie, Tolan, Niamh, Atkinson, Craig, Kon, Mark, Krannila, Carita, Thomas, Manitha, Bull, Russell, Horler, Stephanie, Lakeman, Nicki, McLeod, Jane, Nix, Sara, Thomas, Sue, Ahlert, Daniel, Edmond, Christopher, Hare, Christopher, Kinsella, Kelly Anne, Langtree, Jessica, Speakman, James, Thomas, Ranjit, Donaldson, Gillian, Hall, Fiona, Fairbairn, Terry, Rofe, Christopher, Adams-Hall, Jennifer, Bailey, Ange, Bailey, Kris, Bremner, Leslie, Haq, Ifti, Phillipson, Angela, David, Saroj, Najam, Osman, Pilgrim, Samia, Adams, Claire, Brown, Ammani, Dougherty, Andrew, Geddes, Ailsa, Lang, Karen, Lowe, David, MacDuff, Ross, McGregor, Lorraine, Roditi, Giles, Thornton, Susan, Triscott, Joyce, Adjei, Felicia, Colda, Antoanela, Chapman, Caitlin, Edgell, Veronica, Fell, Michael, Halmai, Laszlo, Khan, Aarzoo, Northfield, John, Padilla-Harris, Cheryl, Pashler, Mike, Richie, Gill, Scaletta, Diane, Sunderland, Sarah–Beth, Turner, Joanne, Vickery, Lois, Walia, Sonya, Williams, Felicity, Wren, Lynn, Wright, Nicola, Maguire, Holly, Varquez, Resti, D’Sa, Anthony, Sharma, Vinoda, Turner, Ashley, Bell, Megan, Benedetti, Giulia, Gibson, Kirsty, Mak, Sze Mun, Preston, Rebecca, Raynsford, Amy, Sanchez-Vidal, Ruth, Biggins, Susan, Dixon, Kathryn, Kraut, Peter, Lawan, Mwada, Murray, Victoria, Mwambingu, Tom, Walker, Rachel, Weston, Carol, Byrom-Goulthorp, Roo, Darby, Michael, Ikongo, Eunice, Johnstone, Annette, Lin, Alan, Mcginlay, Melanie, Albutt, Tania, Dawson, Vicky, Dowling, Claire, Isaacs, Karen, Kaila, Cheyanne, Lewis, Gareth, Mortimer, Nicky, San, Sunitha, Tabor, Kelly, Wright, Kealy, Ahmed, Riaz, Collins, Sally, Davies, Sarah, Ndlovu, Nokukhanya, Abbas, Ausami, Calver, Alison, Corbett, Simon, Cowburn, Peter, Flett, Andrew, Gray, Huon, Harden, Stephen, Haydock, Paul, Mahmoudi, Michael, Paisey, John, Peebles, Charles, Rakhit, Drew, Rawlins, John, Roberts, Paul, Shah, Benoy, Shambrook, James, Simpson, Iain, Sirohi, Rohit, Ullah, Wagas, Vedwan, Katharine, Wilkinson, James, Yue, Arthur, Giannopoulou, Sarra, Greaves, Melanie, McGlynn, Stephen, Miller, Chris, Muthuswamy, Akhila, Murray, Lindsay, Nicholas, Anie, Schmitt, Matthias, Gent, Susan, Hussain, Nafisa, Astin-Chamberlain, Raine, Bloom, Ben, Bolton, Olivia, Martin, Dan, Noba, Lyrics, Norman, Georgia, Page, Shelley, Power, Helen, Skene, Imogen, Smith, David, Walters, Jon, Doughty, Angela, Byng-Hollander, Elaine, Routledge, Helen, Hammond, Leah, Hutchinson, Jayne, Kelly, Stephanie, Regan, Susan, Smith, Aileen, Gray, Julie, Purvis, Sarah, Race, Pam, Almaden-Boyle, Christine, Bissett, Kim, Blues, Carol, Duff, Jackie, Dundas, Scot, Fawcett, Shirley, Houston, Graeme, Hutchison, Emma, Letham, Debbie, Mackintosh, Ann, Meach, Laura, Queripcz, Laura Jayne, Webster, Alan, Atchley, Julian, Daly, Zoe, Ellinor, Kat, Cowell, Richard, Craddock, Helen, Hughes, Rachel, Sackett, Lynda, Saul, Victoria, Smith, Fiona, Stockport, Jane, Watkins, Clare, Barden, Edward, Colnet, Jackie, Gedeza, Swamy, Hoskin, Laura, Kittridge, Lauren, Maloney, Gracie, McCormick, Claire, Nicholson, Anne, Pepper, Stacey, Riches, Joanne, Sevillano, Annaliza, Amoah, Vincent, Aulton, Stacey, Bapusamy, Arivalagan, Cottam, Victoria, Metherell, Stella, Milgate, Sarah, Radford, Elizabeth, Rosewarne, David, Smallwood, Andy, Barr, Charlotte, Broadie, Jonathan, Eason, David, Logie, Ing-Marie, McDonald, Debbie, O’Keeffe, Laura, Patience, Donna, Patience, Lesley, Ahmad, Faheem, Baxter, Nicola, Brown, Ammani, Byrne, John, Collison, Damien, Hopkins, Tracey, King, Hayley, Lowe, David, McLennan, Evonne, Roditi, Giles, Stobo, David, Wilson, Mark, Woodward, Rosie, Armstrong, Ruth, Boyd, Julia, Buchanan, David, Campbell, Christine, Harkess, Ronnie, Milne, Lynsey, Na, Lumine, Rayson, Phillip, Rodriguez, Aryelly, Sinclair, Pamela, Smith, Lorraine, Stevens, Michelle, Wackett, Tony, Walker, Allan, White, Christopher
Publicado 2021