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1. Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI): a single-blind randomised controlled trial

Author: Junker, Anders, Kaltoft, Anne, Madsen, Morten, Christiansen, Evald Høj, Jakobsen, Lars, Carstensen, Steen, Kristensen, Steen Dalby, Thim, Troels, Pedersen, Karin Møller, Korsgaard, Mette Tidemand, Iversen, Allan, Jørgensen, Erik, Joshi, Francis, Pedersen, Frants, Tilsted, Hans Henrik, Alzuhairi, Karam, Saunamäki, Kari, Holmvang, Lene, Ahlehof, Ole, Sørensen, Rikke, Helqvist, Steffen, Mark, Bettina Løjmand, Villadsen, Anton Boel, Raungaard, Bent, Thuesen, Leif, Christiansen, Martin Kirk, Freeman, Philip, Jensen, Svend Eggert, Skov, Charlotte Schmidt, Aziz, Ahmed, Hansen, Henrik Steen, Ellert, Julia, Veien, Karsten, Pedersen, Knud Erik, Hansen, Knud Nørregård, Ahlehoff, Ole, Cappelen, Helle, Wittrock, Daniel, Hansen, Poul Anders, Ankersen, Jens Peter, Hedegaard, Kim Witting, Kempel, John, Kaus, Henning, Erntgaard, Dennis, Pedersen, Danny Mejsner, Giebner, Matthias, Hansen, Troels Martin Hansen, Radosavljevic-Radovanovic, Mina, Prodanovic, Maja, Savic, Lidija, Pejic, Marijana, Matic, Dragan, Uscumlic, Ana, Subotic, Ida, Lasica, Ratko, Vukcevic, Vladan, Suárez, Alfonso, Samaniego, Beatriz, Morís, César, Segovia, Eduardo, Hernández, Ernesto, Lozano, Iñigo, Pascual, Isaac, Vegas-Valle, Jose M., Rozado, José, Rondán, Juan, Avanzas, Pablo, del Valle, Raquel, Padrón, Remigio, García-Castro, Alfonso, Arango, Amalia, Medina-Cameán, Ana B., Fente, Ana I., Muriel-Velasco, Ana, Pomar-Amillo, Ángeles, Roza, César L., Martínez-Fernández, César M., Buelga-Díaz, Covadonga, Fernández-Gonzalo, David, Fernández, Elena, Díaz-González, Eloy, Martinez-González, Eugenio, Iglesias-Llaca, Fernando, Viribay, Fernando M., Fernández-Mallo, Francisco J., Hermosa, Francisco J., Martínez-Bastida, Ginés, Goitia-Martín, Javier, Vega-Fernández, José L., Tresguerres, Jose M., Rodil-Díaz, Juan A., Villar-Fernández, Lara, Alberdi, Lucía, Abella-Ovalle, Luis, de la Roz, Manuel, Fernández-Carral, Marcos Fernández-Carral, Naves, María C., Peláez, María C., Fuentes, María D., García-Alonso, María, Villanueva, María J., Vinagrero, María S., Vázquez-Suárez, María, Martínez-Valle, Marta, Nonide, Marta, Pozo-López, Mónica, Bernardo-Alba, Pablo, Galván-Núñez, Pablo, Martínez-Pérez, Polácido J., Castro, Rafael, Suárez-Coto, Raquel, Suárez-Noriega, Raquel, Guinea, Rocío, Quintana, Rosa B., de Cima, Sara, Hedrera, Segundo A., Laca, Sonia I., Llorente-Álvarez, Susana, Pascual, Susana, Cimas, Teodorna, Mathur, Anthony, McFarlane-Henry, Eleanor, Leonard, Gerry, Veerapen, Jessry, Westwood, Mark, Colicchia, Martina, Prossora, Mary, Andiapen, Mervyn, Mohiddin, Saidi, Lenzi, Valentina, Chong, Jun, Francis, Rohin, Pine, Amy, Jamieson-Leadbitter, Caroline, Neal, Debbie, Din, J., McLeod, Jane, Roberts, Josh, Polokova, Karin, Longman, Kristel, Penney, Lucy, Lakeman, Nicki, Wells, Nicki, Hopper, Oliver, Coward, Paul, O'Kane, Peter, Harkins, Ruth, Guyatt, Samantha, Kennard, Sarah, Orr, Sarah, Horler, Stephanie, Morris, Steve, Walvin, Tom, Snow, Tom, Cunnington, Michael, Burd, Amanda, Gowing, Anne, Krishnamurthy, Arvindra, Harland, Charlotte, Norfolk, Derek, Johnstone, Donna, Newman, Hannah, Reed, Helen, O'Neill, James, Greenwood, John, Cuxton, Josephine, Corrigan, Julie, Somers, Kathryn, Anderson, Michelle, Burtonwood, Natalie, Bijsterveld, Petra, Brogan, Richard, Ryan, Tony, Kodoth, Vivek, Khan, Arif, Sebastian, Deepti, Gorog, Diana, Boyle, Georgina, Shepherd, Lucy, Hamid, Mahmood, Farag, Mohamed, Spinthakis, Nicholas, Waitrak, Paulina, De Sousa, Phillipa, Bhatti, Rishma, Oliver, Victoria, Walshe, Siobhan, Odedra, Toral, Gue, Ying, Kanji, Rahim, Ryding, Alisdair, Ratcliffe, Amanda, Merrick, Angela, Horwood, Carol, Sarti, Charlotte, Maart, Clint, Moore, Donna, Dockerty, Francesca, Baucutt, Karen, Pitcher, Louise, Ilsley, Mary, Clarke, Millie, Germon, Rachel, Gomes, Sara, Clare, Thomas, Nair, Sunil, Staines, Jocasta, Nicholson, Susan, Watkinson, Oliver, Gallagher, Ian, Nelthorpe, Faye, Musselwhite, Janine, Grosser, Konrad, Stimson, Leah, Eaton, Michelle, Heppell, Richard, Turney, Sharon, Horner, Victoria, Schumacher, Natasha, Moon, Angela, Mota, Paula, O'Donnell, Joshua, Panicker, Abeesh Sadasiva, Musa, Anntoniette, Tapp, Luke, Krishnamoorthy, Suresh, Ansell, Valerie, Ali, Danish, Hyndman, Samantha, Banerjee, Prithwish, Been, Martin, Mackenzie, Ailie, McGregor, Andrew, Hildick-Smith, David, Champney, Felicity, Ingoldby, Fiona, Keate, Kirstie, Bennett, Lorraine, Skipper, Nicola, Gregory, Sally, Harfield, Scott, Mudd, Alexandra, Wragg, Christopher, Barmby, David, Grech, Ever, Hall, Ian, Middle, Janet, Barker, Joann, Fofie, Joyce, Gunn, Julian, Housley, Kay, Cockayne, Laura, Weatherlley, Louise, Theodorou, Nana, Wheeldon, Nigel, Fati, Pene, Storey, Robert F., Richardson, James, Iqbal, Javid, Adam, Zul, Brett, Sarah, Agyemang, Michael, Tawiah, Cecilia, Hogrefe, Kai, Raju, Prashanth, Braybrook, Christine, Gracey, Jay, Waldron, Molly, Holloway, Rachael, Burunsuzoglu, Senem, Sidgwick, Sian, Hetherington, Simon, Beirnes, Charmaine, Fernandez, Olga, Lazar, Nicoleta, Knighton, Abigail, Rai, Amrit, Hoare, Amy, Webb, Ian, Breeze, Jonathan, Martin, Katherine, Andrews, Michelle, Patale, Sheetal, Bennett, Amy, Smallwood, Andrew, Radford, Elizabeth, Cotton, James, Martins, Joe, Wallace, Lauren, Milgate, Sarah, Munir, Shahzad, Metherell, Stella, Cottam, Victoria, Massey, Ian, Copestick, Jane, Delaney, Jane, Wain, Jill, Sandhu, Kully, Emery, Lisa, Butler, Robert, Hall, Charlotte, Bucciarelli-Ducci, Chiara, Besana, Rissa, Hussein, Jodie, Bell, Sheila, Gill, Abby, Bales, Emily, Polwarth, Gary, East, Clare, Smith, Ian, Oliveira, Joana, Victor, Saji, Woods, Sarah, Hoole, Stephen, Ramos, Angelo, Sevillano, Annaliza, Nicholson, Anne, Solieri, Ashley, Redman, Emily, Byrne, Jean, Joyce, Joan, Riches, Joanne, Davies, John, Allen, Kezia, Saclot, Louie, Ocampo, Madelaine, Vertue, Mark, Christmas, Natasha, Koothoor, Raiji, Gamma, Reto, Alvares, Wilson, Pepper, Stacey, Kobson, Barbara, Reeve, Christy, Malik, Iqbal, Chester, Emma, Saunders, Heidi, Mojela, Idah, Smee, Joanna, Davies, Justin, Davies, Nina, Clifford, Piers, Dias, Priyanthi, Kaur, Ramandeep, Moreira, Silvia, Ahmad, Yousif, Tomlinson, Lucy, Pengelley, Clare, Bidle, Amanda, Spence, Sharon, Al-Lamee, Rasha, Phuyal, Urmila, Abbass, Hakam, Bose, Tuhina, Elliott, Rebecca, Foundun, Aboo, Chung, Alan, Freestone, Beth, Lee, Dr Kaeng, Elshiekh, Dr Mohamed, Pulikal, George, Bhatre, Gurbir, Douglas, James, Kaeng, Lee, Pitt, Mike, Watkins, Richard, Gill, Simrat, Hartley, Amy, Lucking, Andrew, Moreby, Berni, Darby, Damaris, Corps, Ellie, Parsons, Georgina, De Mance, Gianluigi, Fahrai, Gregor, Turner, Jenny, Langrish, Jeremy, Gaughran, Lisa, Wolyrum, Mathias, Azkhalil, Mohammed, Bates, Rachel, Given, Rachel, Kharbanda, Rajesh, Douthwaite, Rebecca, Lloyd, Steph, Neubauer, Stephen, Barker, Deborah, Dana, Ali, Suttling, Anne, Turner, Charlotte, Smith, Clare, Longbottom, Colin, Ross, David, Cunliffe, Denise, Cox, Emily, Whitehead, Helena, Hudson, Karen, Jones, Leslie, Drew, Martin, Chant, Nicholas, Haworth, Peter, Capel, Robert, Austin, Rosalynn, Howe, Serena, Smith, Trevor, Hobson, Alex, Strike, Philip, Griffiths, Huw, Anantharam, Brijesh, Jack, Pearse, Thornton, Emma, Hodgson, Adrian, Jennison, Alan, McSkeane, Anna, Smith, Bethany, Shaw, Caroline, Leathers, Chris, Armstrong, Elissa, Carruthers, Gayle, Simpson, Holly, Smith, Jan, Hodierne, Jeremy, Kelly, Julie, Barclay, Justin, Scott, Kerry, Gregson, Lisa, Buchanan, Louise, McCormick, Louise, Varma, Madhusudhan, Kelsall, Nicci, Mcarthy, Rachel, Taylor, Rebecca, Thompson, Rebecca, Shelton, Rhidian, Moore, Roger, Tomlinson, Sharon, Thambi, Sunil, Cooper, Theresa, Oakes, Trevor, Deen, Zakhira, Relph, Chris, prentice, Scott, Hall, Lorna, Dillon, Angela, Meadows, Deborah, Frank, Emma, Markham-Jones, Helene, Thomas, Isobel, Gale, Joanne, Denman, Joanne, O'Connor, John, Hindle, Julia, Jackson-Lawrence, Karen, Warner, Karen, Lee, Kelvin, Upton, Robert, Elston, Ruth, Lee, Sandra, Venugopal, Vinod, Finch, Amanda, Fleming, Catherine, Whiteside, Charlene, Pemberton, Chris, Wilkinson, Conor, Sebastian, Deepa, Riedel, Ella, Giuffrida, Gaia, Burnett, Gillian, Spickett, Helen, Glen, James, Brown, Janette, Thornborough, Lauren, Pedley, Lauren, Morgan, Maureen, Waddington, Natalia, Brennan, Oliver, More, Ranjit, Brady, Rebecca, Preston, Stephen, Loder, Chris, Vlad, Ionela, Laurence, Julia, Smit, Angelique, Dimond, Kirsty, Hayes, Michelle, Paddy, Loveth, Crause, Jacolene, Amed, Nadifa, Kaur-Babooa, Priya, Rakhit, Roby, Kotecha, Tushar, Fayed, Hossam, Pavlidis, Antonis, Prendergast, Bernard, Clapp, Brian, Perara, Divaka, Atkinson, Emma, Ellis, Howard, Wilson, Karen, Gibson, Kirsty, Smith, Megan, Khawaja, Muhammed Zeeshan, Sanchez-Vidal, Ruth, Redwood, Simon, Jones, Sophie, Tipping, Aoife, Oommen, Anu, Hendry, Cara, Fath-Orboubadi, DR Fazin, Phillips, Hannah, Kolakaluri, Laurel, Sherwood, Martin, Mackie, Sarah, Aleti, Shilpa, Charles, Thabitha, Roy, Liby, Henderson, Rob, Stables, Rod, Marber, Michael, Berry, Alan, Redington, Andrew, Thygesen, Kristian, Andersen, Henning Rud, Berry, Colin, Copas, Andrew, Meade, Tom, Kelbæk, Henning, Bueno, Hector, von Weitzel-Mudersbach, Paul, Andersen, Grethe, Ludman, Andrew, Cruden, Nick, Topic, Dragan, Mehmedbegovic, Zlatko, de la Hera Galarza, Jesus Maria, Robertson, Steven, Van Dyck, Laura, Chu, Rebecca, Astarci, Josenir, Jamal, Zahra, Hetherington, Daniel, Collier, Lucy, Hausenloy, Derek J, Kharbanda, Rajesh K, Møller, Ulla Kristine, Ramlall, Manish, Aarøe, Jens, Bulluck, Heerajnarain, Clayton, Tim, Dodd, Matthew, Engstrom, Thomas, Evans, Richard, Lassen, Jens Flensted, Christensen, Erika Frischknecht, Garcia-Ruiz, José Manuel, Gorog, Diana A, Hjort, Jakob, Houghton, Richard F, Ibanez, Borja, Knight, Rosemary, Lippert, Freddy K, Lønborg, Jacob T, Maeng, Michael, Milasinovic, Dejan, Nicholas, Jennifer M, Jensen, Lisette Okkels, Perkins, Alexander, Radovanovic, Nebojsa, Rakhit, Roby D, Ravkilde, Jan, Ryding, Alisdair D, Schmidt, Michael R, Riddervold, Ingunn Skogstad, Sørensen, Henrik Toft, Stankovic, Goran, Terkelsen, Christian Juhl, Greenwood, John P, Yellon, Derek M, and Bøtker, Hans Erik
Published: 2019
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2. Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta‐analysis based on a Cochrane systematic review

Author: Brandner, Sebastian, primary, McAleenan, Alexandra, additional, Jones, Hayley E., additional, Kernohan, Ashleigh, additional, Robinson, Tomos, additional, Schmidt, Lena, additional, Dawson, Sarah, additional, Kelly, Claire, additional, Leal, Emmelyn Spencer, additional, Faulkner, Claire L., additional, Palmer, Abigail, additional, Wragg, Christopher, additional, Jefferies, Sarah, additional, Vale, Luke, additional, Higgins, Julian P. T., additional, and Kurian, Kathreena M., additional
Published: 2022
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3. Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma

Author: McAleenan, Alexandra, additional, Jones, Hayley E, additional, Kernohan, Ashleigh, additional, Robinson, Tomos, additional, Schmidt, Lena, additional, Dawson, Sarah, additional, Kelly, Claire, additional, Spencer Leal, Emmelyn, additional, Faulkner, Claire L, additional, Palmer, Abigail, additional, Wragg, Christopher, additional, Jefferies, Sarah, additional, Brandner, Sebastian, additional, Vale, Luke, additional, Higgins, Julian PT, additional, and Kurian, Kathreena M, additional
Published: 2022
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4. Prevalence and architecture of de novo mutations in developmental disorders

Author: McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, Paul A., Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Ajith Kumar, V. K., Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, Karen I., Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., and Hurles, Matthew E.
Published: 2017
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5. Measures of Phonological Short-Term Memory and Their Relationship to Vocabulary Development.

Author: Avons, S. E., Wragg, Christopher A., Cupples, L., and Ludgrove, William J.
Abstract: Examines the relative contribution of phonological short term memory (STM) to vocabulary acquisition in 5-year-old children. The results show that work span, rhyme detection and nonword repetition predict concurrent vocabulary level at age 5. When the study was repeated with same subjects one year later, span and rhyme detection again predicted vocabulary, but nonword repetition did not. (Author/ER)
Published: 1998

6. Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group.

Author: Speight, Beverley, Hanson, Helen, Turnbull, Clare, Hardy, Steven, Drummond, James, Khorashad, Jamshid, Wragg, Christopher, Page, Paula, Parkin, Nicholas W., Rio‐Machin, Ana, Fitzgibbon, Jude, Kulasekararaj, Austin Gladston, Hamblin, Angela, Talley, Polly, McVeigh, Terri P., and Snape, Katie
Subjects: CANCER genetics, BEST practices, GERM cells, CONSENSUS (Social sciences), WHOLE genome sequencing
Abstract: Summary: The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to haematological malignancy. There are currently no national or international best practice guidelines with respect to management of carriers of such variants or of their at‐risk relatives. To address this gap, the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group held a workshop over two days on 28–29th April 2022, with the aim of establishing consensus guidelines on relevant clinical and laboratory pathways. The workshop focussed on the management of disease‐causing germline variation in the following genes: DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2. Using a pre‐workshop survey followed by structured discussion and in‐meeting polling, we achieved consensus for UK best practice in several areas. In particular, high consensus was achieved on issues regarding standardised reporting, variant classification, multidisciplinary team working and patient support. The best practice recommendations from this meeting may be applicable to an expanding number of other genes in this setting. [ABSTRACT FROM AUTHOR]
Published: 2023
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7. BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum

Author: Faulkner, Claire, Ellis, Hayley Patricia, Shaw, Abigail, Penman, Catherine, Palmer, Abigail, Wragg, Christopher, Greenslade, Mark, Haynes, Harry Russell, Williams, Hannah, Lowis, Stephen, White, Paul, Williams, Maggie, Capper, David, and Kurian, Kathreena Mary
Published: 2015
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8. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Author: Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, and Ellard, Sian
Published: 2014
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9. Automated Cytogenetic Classifier (ACC) to Support Accurate Clinical Decision Making in Acute Myeloid Leukaemia

Author: Sirkis, Tamir, Wragg, Christopher, Nacheva, Elisabeth, Ryley, Sarah, Payne, Elspeth, Chowdhury, Onima, Strefford, Jennifer, and Coats, Thomas
Published: 2023
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10. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: 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, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., 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., and Campeau, Philippe M.
Subjects: Male, Models, Molecular, Developmental Disabilities, Gene Expression, General Physics and Astronomy, 02 engineering and technology, Chromatin remodelling, Sociology, lcsh:Science, Independent research, Adenosine Triphosphatases, 0303 health sciences, Multidisciplinary, biology, Health innovation, Disease genetics, Published Erratum, Neurodevelopmental disorders, 021001 nanoscience & nanotechnology, Spelling, 3. Good health, Phenotype, General partnership, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, medicine.symptom, Construct (philosophy), 0210 nano-technology, Psychology, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Clinical epigenetics, Genotype, Science, Mutation, Missense, Library science, Child health, Speech Disorders, General Biochemistry, Genetics and Molecular Biology, Domain (software engineering), 03 medical and health sciences, Protein Domains, Intellectual Disability, medicine, Humans, Author Correction, 030304 developmental biology, Research ethics, Language Disorders, Whole Genome Sequencing, Core Grant, Macrocephaly, DNA Helicases, Helicase, General Chemistry, Chromatin Assembly and Disassembly, Megalencephaly, HEK293 Cells, biology.protein, lcsh:Q, Neuroscience, Impaired speech
Abstract: An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrion Castillo and Else Eising for assistance with the WGS analysis of the index individual, and Sarah Graham and Elliot Sollis for cloning the wild-type CHD3 construct for immunofluorescence. This work was supported by the Netherlands Organization for Scientific Research (NWO) Gravitation Grant 24.001.006 to the Language in Interaction Consortium (L.S.B., S.E.F., and H.G.B.), the Max Planck Society (S.E.F.), the National Institute on Deafness and Other Communication Disorders Grant DC000496 (L.Sh.) and a core grant to the Waisman Center from the National Institute of Child Health and Human Development (Grant U54 HD090256) to L.Sh., the Canadian Institutes of Health Research Grants MOP-119595 and PJT-148830 to W.T.G. Individuals 11, 16, 24, and 28 were part of The DDD Study cohort. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund [Grant number HICF-1009-003], a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute [Grant number WT098051]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The DDD study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12, granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.
Published: 2019
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11. MGMTpromoter methylation testing to predict overall survival in people with glioblastoma treated with temozolomide: a comprehensive meta-analysis based on a Cochrane Systematic Review

Author: Brandner, Sebastian, primary, McAleenan, Alexandra, additional, Kelly, Claire, additional, Spiga, Francesca, additional, Cheng, Hung-Yuan, additional, Dawson, Sarah, additional, Schmidt, Lena, additional, Faulkner, Claire L, additional, Wragg, Christopher, additional, Jefferies, Sarah, additional, Higgins, Julian P T, additional, and Kurian, Kathreena M, additional
Published: 2021
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12. Prognostic value of test(s) for O6-methylguanine–DNA methyltransferase (MGMT) promoter methylation for predicting overall survival in people with glioblastoma treated with temozolomide

Author: McAleenan, Alexandra, additional, Kelly, Claire, additional, Spiga, Francesca, additional, Kernohan, Ashleigh, additional, Cheng, Hung-Yuan, additional, Dawson, Sarah, additional, Schmidt, Lena, additional, Robinson, Tomos, additional, Brandner, Sebastian, additional, Faulkner, Claire L, additional, Wragg, Christopher, additional, Jefferies, Sarah, additional, Howell, Amy, additional, Vale, Luke, additional, Higgins, Julian P T, additional, and Kurian, Kathreena M, additional
Published: 2021
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13. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author: McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, Jr., van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, and Rodan, Lance H.
Published: 2019
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14. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author: McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Al Turki, Saeed, Anderson, Carl, Anney, Richard, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Balasubramaniam, Senduran, Barroso, Inês, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Birney, Ewan, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick, Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebhattin, Clapham, Peter, Clement, Gail, Coates, Guy, Collier, David, Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Day-Williams, Aaron, Day, Ian N.M., Down, Thomas, Du, Yuanping, Dunham, Ian, Edkins, Sarah, Ellis, Peter, Evans, David, Faroogi, Sadaf, Fatemifar, Ghazaleh, Fitzpatrick, David R., Flicek, Paul, Flyod, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise, Geihs, Matthias, Geschwind, Daniel, Griffin, Heather, Grozeva, Detelina, Guo, Xueqin, Guo, Xiaosen, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey, Holmans, Peter, Howie, Bryan, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda, Jing, Tian, Joyce, Chris, Kaye, Jane, Keane, Thomas, Keogh, Julia, Kemp, John, Kennedy, Karen, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel, Lee, Irene, Lek, Monkol, Liang, Jieqin, Lin, Hong, Li, Rui, Li, Yingrui, Liu, Ryan, Lönnqvist, Jouko, Lopes, Margarida, Iotchkova, Valentina, MacArthur, Daniel, Marchini, Jonathan, Maslen, John, Massimo, Mangino, Mathieson, Iain, Marenne, Gaëlle, McGuffin, Peter, McIntosh, Andrew, McKechanie, Andrew G., McQuillin, Andrew, Metrustry, Sarah, Mitchison, Hannah, Moayyeri, Alireza, Morris, James, Muntoni, Francesco, Northstone, Kate, O'Donnovan, Michael, Onoufriadis, Alexandros, O'Rahilly, Stephen, Oualkacha, Karim, Owen, Michael J., Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Pietilainen, Olli, Plagnol, Vincent, Quaye, Lydia, Quail, Michael A., Rehnström, Karola, Ring, Susan, Ritchie, Graham R.S., Roberts, Nicola, Savage, David B., Scambler, Peter, Schiffels, Stephen, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Sharp, Sally I., Shin, So-Youn, Skuse, David, Small, Kerrin, Southam, Lorraine, Spasic-Boskovic, Olivera, St Clair, David, Stalker, Jim, Stevens, Elizabeth, St Pourcian, Beate, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Tobin, Martin D., Valdes, Ana, Van Kogelenberg, Margriet, Visscher, Peter M., Wain, Louise V., Walters, James T.R., Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Elanor, Whyte, Tamieka, Williams, Hywel, Williamson, Kathleen A., Wilson, Crispian, Wong, Kim, Xu, ChangJiang, Yang, Jian, Zhang, Fend, Zhang, Pingbo, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Carmichael, Jenny, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Devlin, Lisa, Dewhurst, Eleanor, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Fox, James C., Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Hu, Fengyuan, Huissoon, Aarnoud, Humbert, Marc, James, Roger, Jolles, Stephen, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lawrie, Allan, Lear, Sara, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Machado, Rajiv, Mackenzie, Rob, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Parker, Alasdair, Pasi, John, Patch, Chris, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Roughley, Catherine, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schulman, Sol, Schulze, Harald, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth, Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Tait, R. Campbell, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Webster, Andrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Gorman, Kathleen M., Meyer, Esther, Spinelli, Egidio, McTague, Amy, Carss, Keren J., Bryant, Emily, Reich, Adi, Schneider, Amy L., Pressler, Ronit M., Simpson, Michael A., Debelle, Geoff D., Sieciechowicz, Diana, Jan-Kamsteeg, Eric, Paciorkowski, Alex R., King, Mary D., Cross, J. Helen, Poduri, Annapurna, Mefford, Heather C., Scheffer, Ingrid E., Haack, Tobias B., McCullagh, Gary, Millichap, John J., Carvill, Gemma L., Maher, Eamonn R., and Kurian, Manju A.
Published: 2019
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15. MGMT promoter methylation testing to predict overall survival in people with glioblastoma treated with temozolomide: a comprehensive meta-analysis based on a Cochrane Systematic Review.

Author: Brandner, Sebastian, McAleenan, Alexandra, Kelly, Claire, Spiga, Francesca, Cheng, Hung-Yuan, Dawson, Sarah, Schmidt, Lena, Faulkner, Claire L, Wragg, Christopher, Jefferies, Sarah, Higgins, Julian P T, and Kurian, Kathreena M
Published: 2021
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16. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author: Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V.K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Faundes, Víctor, Newman, William G., Bernardini, Laura, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Horton, Rachel, and Robertson, Lisa
Published: 2018
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17. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author: 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, McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., 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., Radboud University Medical Center [Nijmegen], Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], CHU Sainte Justine [Montréal], Boston Children's Hospital, Massachusetts General Hospital [Boston], School for Oncology and Developmental Biology [Maastricht] (GROW), Maastricht University [Maastricht]-Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Maastricht University Medical Centre (MUMC), University of British Columbia (UBC), University of Calgary, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Filière Neuromusculaire (FILNEMUS), Virginia Commonwealth University (VCU), University Medical Center Groningen [Groningen] (UMCG), Seoul National University [Seoul] (SNU), Oxford University Hospitals NHS Trust, University of Oxford [Oxford], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), University Medical Center [Utrecht], University Hospitals Bristol, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), Mayo Clinic [Rochester], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Waseda University, Université de Bourgogne (UB), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Human Genetics [Nijmegen], The DDD study, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), and MUMC+: DA Klinische Genetica (5)
Subjects: 0301 basic medicine, DISORDER, INTELLECTUAL DISABILITY, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, General Physics and Astronomy, EXOME, Language in Interaction, fluids and secretions, 0302 clinical medicine, Intellectual disability, Missense mutation, lcsh:Science, Exome, reproductive and urinary physiology, Genetics, Multidisciplinary, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], Phenotype, FAMILY, DEACETYLASE COMPLEX, NURD, medicine.symptom, Neuroinformatics, Science, Biology, DIAGNOSIS, Article, General Biochemistry, Genetics and Molecular Biology, Chromatin remodeling, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, mental disorders, medicine, CHROMATIN REMODELING COMPLEX, Gene, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Macrocephaly, Helicase, General Chemistry, medicine.disease, GENE, 030104 developmental biology, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, biology.protein, lcsh:Q, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], 030217 neurology & neurosurgery
Abstract: Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language., Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.
Published: 2018
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18. Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI): a single-blind randomised controlled trial

Author: Hausenloy, Derek J, primary, Kharbanda, Rajesh K, additional, Møller, Ulla Kristine, additional, Ramlall, Manish, additional, Aarøe, Jens, additional, Butler, Robert, additional, Bulluck, Heerajnarain, additional, Clayton, Tim, additional, Dana, Ali, additional, Dodd, Matthew, additional, Engstrom, Thomas, additional, Evans, Richard, additional, Lassen, Jens Flensted, additional, Christensen, Erika Frischknecht, additional, Garcia-Ruiz, José Manuel, additional, Gorog, Diana A, additional, Hjort, Jakob, additional, Houghton, Richard F, additional, Ibanez, Borja, additional, Knight, Rosemary, additional, Lippert, Freddy K, additional, Lønborg, Jacob T, additional, Maeng, Michael, additional, Milasinovic, Dejan, additional, More, Ranjit, additional, Nicholas, Jennifer M, additional, Jensen, Lisette Okkels, additional, Perkins, Alexander, additional, Radovanovic, Nebojsa, additional, Rakhit, Roby D, additional, Ravkilde, Jan, additional, Ryding, Alisdair D, additional, Schmidt, Michael R, additional, Riddervold, Ingunn Skogstad, additional, Sørensen, Henrik Toft, additional, Stankovic, Goran, additional, Varma, Madhusudhan, additional, Webb, Ian, additional, Terkelsen, Christian Juhl, additional, Greenwood, John P, additional, Yellon, Derek M, additional, Bøtker, Hans Erik, additional, Junker, Anders, additional, Kaltoft, Anne, additional, Madsen, Morten, additional, Christiansen, Evald Høj, additional, Jakobsen, Lars, additional, Carstensen, Steen, additional, Kristensen, Steen Dalby, additional, Thim, Troels, additional, Pedersen, Karin Møller, additional, Korsgaard, Mette Tidemand, additional, Iversen, Allan, additional, Jørgensen, Erik, additional, Joshi, Francis, additional, Pedersen, Frants, additional, Tilsted, Hans Henrik, additional, Alzuhairi, Karam, additional, Saunamäki, Kari, additional, Holmvang, Lene, additional, Ahlehof, Ole, additional, Sørensen, Rikke, additional, Helqvist, Steffen, additional, Mark, Bettina Løjmand, additional, Villadsen, Anton Boel, additional, Raungaard, Bent, additional, Thuesen, Leif, additional, Christiansen, Martin Kirk, additional, Freeman, Philip, additional, Jensen, Svend Eggert, additional, Skov, Charlotte Schmidt, additional, Aziz, Ahmed, additional, Hansen, Henrik Steen, additional, Ellert, Julia, additional, Veien, Karsten, additional, Pedersen, Knud Erik, additional, Hansen, Knud Nørregård, additional, Ahlehoff, Ole, additional, Cappelen, Helle, additional, Wittrock, Daniel, additional, Hansen, Poul Anders, additional, Ankersen, Jens Peter, additional, Hedegaard, Kim Witting, additional, Kempel, John, additional, Kaus, Henning, additional, Erntgaard, Dennis, additional, Pedersen, Danny Mejsner, additional, Giebner, Matthias, additional, Hansen, Troels Martin Hansen, additional, Radosavljevic-Radovanovic, Mina, additional, Prodanovic, Maja, additional, Savic, Lidija, additional, Pejic, Marijana, additional, Matic, Dragan, additional, Uscumlic, Ana, additional, Subotic, Ida, additional, Lasica, Ratko, additional, Vukcevic, Vladan, additional, Suárez, Alfonso, additional, Samaniego, Beatriz, additional, Morís, César, additional, Segovia, Eduardo, additional, Hernández, Ernesto, additional, Lozano, Iñigo, additional, Pascual, Isaac, additional, Vegas-Valle, Jose M., additional, Rozado, José, additional, Rondán, Juan, additional, Avanzas, Pablo, additional, del Valle, Raquel, additional, Padrón, Remigio, additional, García-Castro, Alfonso, additional, Arango, Amalia, additional, Medina-Cameán, Ana B., additional, Fente, Ana I., additional, Muriel-Velasco, Ana, additional, Pomar-Amillo, Ángeles, additional, Roza, César L., additional, Martínez-Fernández, César M., additional, Buelga-Díaz, Covadonga, additional, Fernández-Gonzalo, David, additional, Fernández, Elena, additional, Díaz-González, Eloy, additional, Martinez-González, Eugenio, additional, Iglesias-Llaca, Fernando, additional, Viribay, Fernando M., additional, Fernández-Mallo, Francisco J., additional, Hermosa, Francisco J., additional, Martínez-Bastida, Ginés, additional, Goitia-Martín, Javier, additional, Vega-Fernández, José L., additional, Tresguerres, Jose M., additional, Rodil-Díaz, Juan A., additional, Villar-Fernández, Lara, additional, Alberdi, Lucía, additional, Abella-Ovalle, Luis, additional, de la Roz, Manuel, additional, Fernández-Carral, Marcos Fernández-Carral, additional, Naves, María C., additional, Peláez, María C., additional, Fuentes, María D., additional, García-Alonso, María, additional, Villanueva, María J., additional, Vinagrero, María S., additional, Vázquez-Suárez, María, additional, Martínez-Valle, Marta, additional, Nonide, Marta, additional, Pozo-López, Mónica, additional, Bernardo-Alba, Pablo, additional, Galván-Núñez, Pablo, additional, Martínez-Pérez, Polácido J., additional, Castro, Rafael, additional, Suárez-Coto, Raquel, additional, Suárez-Noriega, Raquel, additional, Guinea, Rocío, additional, Quintana, Rosa B., additional, de Cima, Sara, additional, Hedrera, Segundo A., additional, Laca, Sonia I., additional, Llorente-Álvarez, Susana, additional, Pascual, Susana, additional, Cimas, Teodorna, additional, Mathur, Anthony, additional, McFarlane-Henry, Eleanor, additional, Leonard, Gerry, additional, Veerapen, Jessry, additional, Westwood, Mark, additional, Colicchia, Martina, additional, Prossora, Mary, additional, Andiapen, Mervyn, additional, Mohiddin, Saidi, additional, Lenzi, Valentina, additional, Chong, Jun, additional, Francis, Rohin, additional, Pine, Amy, additional, Jamieson-Leadbitter, Caroline, additional, Neal, Debbie, additional, Din, J., additional, McLeod, Jane, additional, Roberts, Josh, additional, Polokova, Karin, additional, Longman, Kristel, additional, Penney, Lucy, additional, Lakeman, Nicki, additional, Wells, Nicki, additional, Hopper, Oliver, additional, Coward, Paul, additional, O'Kane, Peter, additional, Harkins, Ruth, additional, Guyatt, Samantha, additional, Kennard, Sarah, additional, Orr, Sarah, additional, Horler, Stephanie, additional, Morris, Steve, additional, Walvin, Tom, additional, Snow, Tom, additional, Cunnington, Michael, additional, Burd, Amanda, additional, Gowing, Anne, additional, Krishnamurthy, Arvindra, additional, Harland, Charlotte, additional, Norfolk, Derek, additional, Johnstone, Donna, additional, Newman, Hannah, additional, Reed, Helen, additional, O'Neill, James, additional, Greenwood, John, additional, Cuxton, Josephine, additional, Corrigan, Julie, additional, Somers, Kathryn, additional, Anderson, Michelle, additional, Burtonwood, Natalie, additional, Bijsterveld, Petra, additional, Brogan, Richard, additional, Ryan, Tony, additional, Kodoth, Vivek, additional, Khan, Arif, additional, Sebastian, Deepti, additional, Gorog, Diana, additional, Boyle, Georgina, additional, Shepherd, Lucy, additional, Hamid, Mahmood, additional, Farag, Mohamed, additional, Spinthakis, Nicholas, additional, Waitrak, Paulina, additional, De Sousa, Phillipa, additional, Bhatti, Rishma, additional, Oliver, Victoria, additional, Walshe, Siobhan, additional, Odedra, Toral, additional, Gue, Ying, additional, Kanji, Rahim, additional, Ryding, Alisdair, additional, Ratcliffe, Amanda, additional, Merrick, Angela, additional, Horwood, Carol, additional, Sarti, Charlotte, additional, Maart, Clint, additional, Moore, Donna, additional, Dockerty, Francesca, additional, Baucutt, Karen, additional, Pitcher, Louise, additional, Ilsley, Mary, additional, Clarke, Millie, additional, Germon, Rachel, additional, Gomes, Sara, additional, Clare, Thomas, additional, Nair, Sunil, additional, Staines, Jocasta, additional, Nicholson, Susan, additional, Watkinson, Oliver, additional, Gallagher, Ian, additional, Nelthorpe, Faye, additional, Musselwhite, Janine, additional, Grosser, Konrad, additional, Stimson, Leah, additional, Eaton, Michelle, additional, Heppell, Richard, additional, Turney, Sharon, additional, Horner, Victoria, additional, Schumacher, Natasha, additional, Moon, Angela, additional, Mota, Paula, additional, O'Donnell, Joshua, additional, Panicker, Abeesh Sadasiva, additional, Musa, Anntoniette, additional, Tapp, Luke, additional, Krishnamoorthy, Suresh, additional, Ansell, Valerie, additional, Ali, Danish, additional, Hyndman, Samantha, additional, Banerjee, Prithwish, additional, Been, Martin, additional, Mackenzie, Ailie, additional, McGregor, Andrew, additional, Hildick-Smith, David, additional, Champney, Felicity, additional, Ingoldby, Fiona, additional, Keate, Kirstie, additional, Bennett, Lorraine, additional, Skipper, Nicola, additional, Gregory, Sally, additional, Harfield, Scott, additional, Mudd, Alexandra, additional, Wragg, Christopher, additional, Barmby, David, additional, Grech, Ever, additional, Hall, Ian, additional, Middle, Janet, additional, Barker, Joann, additional, Fofie, Joyce, additional, Gunn, Julian, additional, Housley, Kay, additional, Cockayne, Laura, additional, Weatherlley, Louise, additional, Theodorou, Nana, additional, Wheeldon, Nigel, additional, Fati, Pene, additional, Storey, Robert F., additional, Richardson, James, additional, Iqbal,, Javid, additional, Adam, Zul, additional, Brett, Sarah, additional, Agyemang, Michael, additional, Tawiah, Cecilia, additional, Hogrefe, Kai, additional, Raju, Prashanth, additional, Braybrook, Christine, additional, Gracey, Jay, additional, Waldron, Molly, additional, Holloway, Rachael, additional, Burunsuzoglu, Senem, additional, Sidgwick, Sian, additional, Hetherington, Simon, additional, Beirnes, Charmaine, additional, Fernandez, Olga, additional, Lazar, Nicoleta, additional, Knighton, Abigail, additional, Rai, Amrit, additional, Hoare, Amy, additional, Breeze, Jonathan, additional, Martin, Katherine, additional, Andrews, Michelle, additional, Patale, Sheetal, additional, Bennett, Amy, additional, Smallwood, Andrew, additional, Radford, Elizabeth, additional, Cotton, James, additional, Martins, Joe, additional, Wallace, Lauren, additional, Milgate, Sarah, additional, Munir, Shahzad, additional, Metherell, Stella, additional, Cottam, Victoria, additional, Massey, Ian, additional, Copestick, Jane, additional, Delaney, Jane, additional, Wain, Jill, additional, Sandhu, Kully, additional, Emery, Lisa, additional, Hall, Charlotte, additional, Bucciarelli-Ducci, Chiara, additional, Besana, Rissa, additional, Hussein, Jodie, additional, Bell, Sheila, additional, Gill, Abby, additional, Bales, Emily, additional, Polwarth, Gary, additional, East, Clare, additional, Smith, Ian, additional, Oliveira, Joana, additional, Victor, Saji, additional, Woods, Sarah, additional, Hoole, Stephen, additional, Ramos, Angelo, additional, Sevillano, Annaliza, additional, Nicholson, Anne, additional, Solieri, Ashley, additional, Redman, Emily, additional, Byrne, Jean, additional, Joyce, Joan, additional, Riches, Joanne, additional, Davies, John, additional, Allen, Kezia, additional, Saclot, Louie, additional, Ocampo, Madelaine, additional, Vertue, Mark, additional, Christmas, Natasha, additional, Koothoor, Raiji, additional, Gamma, Reto, additional, Alvares, Wilson, additional, Pepper, Stacey, additional, Kobson, Barbara, additional, Reeve, Christy, additional, Malik, Iqbal, additional, Chester, Emma, additional, Saunders, Heidi, additional, Mojela, Idah, additional, Smee, Joanna, additional, Davies, Justin, additional, Davies, Nina, additional, Clifford, Piers, additional, Dias, Priyanthi, additional, Kaur, Ramandeep, additional, Moreira, Silvia, additional, Ahmad, Yousif, additional, Tomlinson, Lucy, additional, Pengelley, Clare, additional, Bidle, Amanda, additional, Spence, Sharon, additional, Al-Lamee, Rasha, additional, Phuyal, Urmila, additional, Abbass, Hakam, additional, Bose, Tuhina, additional, Elliott, Rebecca, additional, Foundun, Aboo, additional, Chung, Alan, additional, Freestone, Beth, additional, Lee, Dr Kaeng, additional, Elshiekh, Dr Mohamed, additional, Pulikal, George, additional, Bhatre, Gurbir, additional, Douglas, James, additional, Kaeng, Lee, additional, Pitt, Mike, additional, Watkins, Richard, additional, Gill, Simrat, additional, Hartley, Amy, additional, Lucking, Andrew, additional, Moreby, Berni, additional, Darby, Damaris, additional, Corps, Ellie, additional, Parsons, Georgina, additional, De Mance, Gianluigi, additional, Fahrai, Gregor, additional, Turner, Jenny, additional, Langrish, Jeremy, additional, Gaughran, Lisa, additional, Wolyrum, Mathias, additional, Azkhalil, Mohammed, additional, Bates, Rachel, additional, Given, Rachel, additional, Kharbanda, Rajesh, additional, Douthwaite, Rebecca, additional, Lloyd, Steph, additional, Neubauer, Stephen, additional, Barker, Deborah, additional, Suttling, Anne, additional, Turner, Charlotte, additional, Smith, Clare, additional, Longbottom, Colin, additional, Ross, David, additional, Cunliffe, Denise, additional, Cox, Emily, additional, Whitehead, Helena, additional, Hudson, Karen, additional, Jones, Leslie, additional, Drew, Martin, additional, Chant, Nicholas, additional, Haworth, Peter, additional, Capel, Robert, additional, Austin, Rosalynn, additional, Howe, Serena, additional, Smith, Trevor, additional, Hobson, Alex, additional, Strike, Philip, additional, Griffiths, Huw, additional, Anantharam, Brijesh, additional, Jack, Pearse, additional, Thornton, Emma, additional, Hodgson, Adrian, additional, Jennison, Alan, additional, McSkeane, Anna, additional, Smith, Bethany, additional, Shaw, Caroline, additional, Leathers, Chris, additional, Armstrong, Elissa, additional, Carruthers, Gayle, additional, Simpson, Holly, additional, Smith, Jan, additional, Hodierne, Jeremy, additional, Kelly, Julie, additional, Barclay, Justin, additional, Scott, Kerry, additional, Gregson, Lisa, additional, Buchanan, Louise, additional, McCormick, Louise, additional, Kelsall, Nicci, additional, Mcarthy, Rachel, additional, Taylor, Rebecca, additional, Thompson, Rebecca, additional, Shelton, Rhidian, additional, Moore, Roger, additional, Tomlinson, Sharon, additional, Thambi, Sunil, additional, Cooper, Theresa, additional, Oakes, Trevor, additional, Deen, Zakhira, additional, Relph, Chris, additional, prentice, Scott, additional, Hall, Lorna, additional, Dillon, Angela, additional, Meadows, Deborah, additional, Frank, Emma, additional, Markham-Jones, Helene, additional, Thomas, Isobel, additional, Gale, Joanne, additional, Denman, Joanne, additional, O'Connor, John, additional, Hindle, Julia, additional, Jackson-Lawrence, Karen, additional, Warner, Karen, additional, Lee, Kelvin, additional, Upton, Robert, additional, Elston, Ruth, additional, Lee, Sandra, additional, Venugopal, Vinod, additional, Finch, Amanda, additional, Fleming, Catherine, additional, Whiteside, Charlene, additional, Pemberton, Chris, additional, Wilkinson, Conor, additional, Sebastian, Deepa, additional, Riedel, Ella, additional, Giuffrida, Gaia, additional, Burnett, Gillian, additional, Spickett, Helen, additional, Glen, James, additional, Brown, Janette, additional, Thornborough, Lauren, additional, Pedley, Lauren, additional, Morgan, Maureen, additional, Waddington, Natalia, additional, Brennan, Oliver, additional, Brady, Rebecca, additional, Preston, Stephen, additional, Loder, Chris, additional, Vlad, Ionela, additional, Laurence, Julia, additional, Smit, Angelique, additional, Dimond, Kirsty, additional, Hayes, Michelle, additional, Paddy, Loveth, additional, Crause, Jacolene, additional, Amed, Nadifa, additional, Kaur-Babooa, Priya, additional, Rakhit, Roby, additional, Kotecha, Tushar, additional, Fayed, Hossam, additional, Pavlidis, Antonis, additional, Prendergast, Bernard, additional, Clapp, Brian, additional, Perara, Divaka, additional, Atkinson, Emma, additional, Ellis, Howard, additional, Wilson, Karen, additional, Gibson, Kirsty, additional, Smith, Megan, additional, Khawaja, Muhammed Zeeshan, additional, Sanchez-Vidal, Ruth, additional, Redwood, Simon, additional, Jones, Sophie, additional, Tipping, Aoife, additional, Oommen, Anu, additional, Hendry, Cara, additional, Fath-Orboubadi, DR Fazin, additional, Phillips, Hannah, additional, Kolakaluri, Laurel, additional, Sherwood, Martin, additional, Mackie, Sarah, additional, Aleti, Shilpa, additional, Charles, Thabitha, additional, Roy, Liby, additional, Henderson, Rob, additional, Stables, Rod, additional, Marber, Michael, additional, Berry, Alan, additional, Redington, Andrew, additional, Thygesen, Kristian, additional, Andersen, Henning Rud, additional, Berry, Colin, additional, Copas, Andrew, additional, Meade, Tom, additional, Kelbæk, Henning, additional, Bueno, Hector, additional, von Weitzel-Mudersbach, Paul, additional, Andersen, Grethe, additional, Ludman, Andrew, additional, Cruden, Nick, additional, Topic, Dragan, additional, Mehmedbegovic, Zlatko, additional, de la Hera Galarza, Jesus Maria, additional, Robertson, Steven, additional, Van Dyck, Laura, additional, Chu, Rebecca, additional, Astarci, Josenir, additional, Jamal, Zahra, additional, Hetherington, Daniel, additional, and Collier, Lucy, additional
Published: 2019
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19. Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma

Author: McAleenan, Alexandra, primary, Jones, Hayley E, additional, Kernohan, Ashleigh, additional, Faulkner, Claire L, additional, Palmer, Abigail, additional, Dawson, Sarah, additional, Wragg, Christopher, additional, Jefferies, Sarah, additional, Brandner, Sebastian, additional, Vale, Luke, additional, Higgins, Julian P T, additional, and Kurian, Kathreena M, additional
Published: 2019
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20. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author: O’Donnell-Luria, Anne H., primary, Pais, Lynn S., additional, Faundes, Víctor, additional, Wood, Jordan C., additional, Sveden, Abigail, additional, Luria, Victor, additional, Abou Jamra, Rami, additional, Accogli, Andrea, additional, Amburgey, Kimberly, additional, Anderlid, Britt Marie, additional, Azzarello-Burri, Silvia, additional, Basinger, Alice A., additional, Bianchini, Claudia, additional, Bird, Lynne M., additional, Buchert, Rebecca, additional, Carre, Wilfrid, additional, Ceulemans, Sophia, additional, Charles, Perrine, additional, Cox, Helen, additional, Culliton, Lisa, additional, Currò, Aurora, additional, Demurger, Florence, additional, Dowling, James J., additional, Duban-Bedu, Benedicte, additional, Dubourg, Christèle, additional, Eiset, Saga Elise, additional, Escobar, Luis F., additional, Ferrarini, Alessandra, additional, Haack, Tobias B., additional, Hashim, Mona, additional, Heide, Solveig, additional, Helbig, Katherine L., additional, Helbig, Ingo, additional, Heredia, Raul, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jonasson, Amy R., additional, Joset, Pascal, additional, Keren, Boris, additional, Kok, Fernando, additional, Kroes, Hester Y., additional, Lavillaureix, Alinoë, additional, Lu, Xin, additional, Maas, Saskia M., additional, Maegawa, Gustavo H.B., additional, Marcelis, Carlo L.M., additional, Mark, Paul R., additional, Masruha, Marcelo R., additional, McLaughlin, Heather M., additional, McWalter, Kirsty, additional, Melchinger, Esther U., additional, Mercimek-Andrews, Saadet, additional, Nava, Caroline, additional, Pendziwiat, Manuela, additional, Person, Richard, additional, Ramelli, Gian Paolo, additional, Ramos, Luiza L.P., additional, Rauch, Anita, additional, Reavey, Caitlin, additional, Renieri, Alessandra, additional, Rieß, Angelika, additional, Sanchez-Valle, Amarilis, additional, Sattar, Shifteh, additional, Saunders, Carol, additional, Schwarz, Niklas, additional, Smol, Thomas, additional, Srour, Myriam, additional, Steindl, Katharina, additional, Syrbe, Steffen, additional, Taylor, Jenny C., additional, Telegrafi, Aida, additional, Thiffault, Isabelle, additional, Trauner, Doris A., additional, van der Linden, Helio, additional, van Koningsbruggen, Silvana, additional, Villard, Laurent, additional, Vogel, Ida, additional, Vogt, Julie, additional, Weber, Yvonne G., additional, Wentzensen, Ingrid M., additional, Widjaja, Elysa, additional, Zak, Jaroslav, additional, Baxter, Samantha, additional, Banka, Siddharth, additional, Rodan, Lance H., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clayton-Smith, Jill, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Morton, Jenny, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and Hurles, Matthew E., additional
Published: 2019
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21. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author: Gorman, Kathleen M., primary, Meyer, Esther, additional, Grozeva, Detelina, additional, Spinelli, Egidio, additional, McTague, Amy, additional, Sanchis-Juan, Alba, additional, Carss, Keren J., additional, Bryant, Emily, additional, Reich, Adi, additional, Schneider, Amy L., additional, Pressler, Ronit M., additional, Simpson, Michael A., additional, Debelle, Geoff D., additional, Wassmer, Evangeline, additional, Morton, Jenny, additional, Sieciechowicz, Diana, additional, Jan-Kamsteeg, Eric, additional, Paciorkowski, Alex R., additional, King, Mary D., additional, Cross, J. Helen, additional, Poduri, Annapurna, additional, Mefford, Heather C., additional, Scheffer, Ingrid E., additional, Haack, Tobias B., additional, McCullagh, Gary, additional, Millichap, John J., additional, Carvill, Gemma L., additional, Clayton-Smith, Jill, additional, Maher, Eamonn R., additional, Raymond, F. Lucy, additional, Kurian, Manju A., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, Al Turki, Saeed, additional, Anderson, Carl, additional, Anney, Richard, additional, Antony, Dinu, additional, Artigas, Maria Soler, additional, Ayub, Muhammad, additional, Balasubramaniam, Senduran, additional, Barroso, Inês, additional, Beales, Phil, additional, Bentham, Jamie, additional, Bhattacharya, Shoumo, additional, Birney, Ewan, additional, Blackwood, Douglas, additional, Bobrow, Martin, additional, Bochukova, Elena, additional, Bolton, Patrick, additional, Bounds, Rebecca, additional, Boustred, Chris, additional, Breen, Gerome, additional, Calissano, Mattia, additional, Carss, Keren, additional, Chatterjee, Krishna, additional, Chen, Lu, additional, Ciampi, Antonio, additional, Cirak, Sebhattin, additional, Clapham, Peter, additional, Clement, Gail, additional, Coates, Guy, additional, Collier, David, additional, Cosgrove, Catherine, additional, Cox, Tony, additional, Craddock, Nick, additional, Crooks, Lucy, additional, Curran, Sarah, additional, Curtis, David, additional, Daly, Allan, additional, Day-Williams, Aaron, additional, Day, Ian N.M., additional, Down, Thomas, additional, Du, Yuanping, additional, Dunham, Ian, additional, Edkins, Sarah, additional, Ellis, Peter, additional, Evans, David, additional, Faroogi, Sadaf, additional, Fatemifar, Ghazaleh, additional, Fitzpatrick, David R., additional, Flicek, Paul, additional, Flyod, James, additional, Foley, A. Reghan, additional, Franklin, Christopher S., additional, Futema, Marta, additional, Gallagher, Louise, additional, Geihs, Matthias, additional, Geschwind, Daniel, additional, Griffin, Heather, additional, Guo, Xueqin, additional, Guo, Xiaosen, additional, Gurling, Hugh, additional, Hart, Deborah, additional, Hendricks, Audrey, additional, Holmans, Peter, additional, Howie, Bryan, additional, Huang, Liren, additional, Hubbard, Tim, additional, Humphries, Steve E., additional, Hysi, Pirro, additional, Jackson, David K., additional, Jamshidi, Yalda, additional, Jing, Tian, additional, Joyce, Chris, additional, Kaye, Jane, additional, Keane, Thomas, additional, Keogh, Julia, additional, Kemp, John, additional, Kennedy, Karen, additional, Kolb-Kokocinski, Anja, additional, Lachance, Genevieve, additional, Langford, Cordelia, additional, Lawson, Daniel, additional, Lee, Irene, additional, Lek, Monkol, additional, Liang, Jieqin, additional, Lin, Hong, additional, Li, Rui, additional, Li, Yingrui, additional, Liu, Ryan, additional, Lönnqvist, Jouko, additional, Lopes, Margarida, additional, Iotchkova, Valentina, additional, MacArthur, Daniel, additional, Marchini, Jonathan, additional, Maslen, John, additional, Massimo, Mangino, additional, Mathieson, Iain, additional, Marenne, Gaëlle, additional, McGuffin, Peter, additional, McIntosh, Andrew, additional, McKechanie, Andrew G., additional, McQuillin, Andrew, additional, Metrustry, Sarah, additional, Mitchison, Hannah, additional, Moayyeri, Alireza, additional, Morris, James, additional, Muntoni, Francesco, additional, Northstone, Kate, additional, O'Donnovan, Michael, additional, Onoufriadis, Alexandros, additional, O'Rahilly, Stephen, additional, Oualkacha, Karim, additional, Owen, Michael J., additional, Palotie, Aarno, additional, Panoutsopoulou, Kalliope, additional, Parker, Victoria, additional, Parr, Jeremy R., additional, Paternoster, Lavinia, additional, Paunio, Tiina, additional, Payne, Felicity, additional, Pietilainen, Olli, additional, Plagnol, Vincent, additional, Quaye, Lydia, additional, Quail, Michael A., additional, Rehnström, Karola, additional, Ring, Susan, additional, Ritchie, Graham R.S., additional, Roberts, Nicola, additional, Savage, David B., additional, Scambler, Peter, additional, Schiffels, Stephen, additional, Schmidts, Miriam, additional, Schoenmakers, Nadia, additional, Semple, Robert K., additional, Serra, Eva, additional, Sharp, Sally I., additional, Shin, So-Youn, additional, Skuse, David, additional, Small, Kerrin, additional, Southam, Lorraine, additional, Spasic-Boskovic, Olivera, additional, St Clair, David, additional, Stalker, Jim, additional, Stevens, Elizabeth, additional, St Pourcian, Beate, additional, Sun, Jianping, additional, Suvisaari, Jaana, additional, Tachmazidou, Ionna, additional, Tobin, Martin D., additional, Valdes, Ana, additional, Van Kogelenberg, Margriet, additional, Visscher, Peter M., additional, Wain, Louise V., additional, Walters, James T.R., additional, Wang, Guangbiao, additional, Wang, Jun, additional, Wang, Yu, additional, Ward, Kirsten, additional, Wheeler, Elanor, additional, Whyte, Tamieka, additional, Williams, Hywel, additional, Williamson, Kathleen A., additional, Wilson, Crispian, additional, Wong, Kim, additional, Xu, ChangJiang, additional, Yang, Jian, additional, Zhang, Fend, additional, Zhang, Pingbo, additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allen, Louise, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Arno, Gavin, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Carmichael, Jenny, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Chitre, Manali, additional, Church, Colin, additional, Clement, Emma, additional, Clements-Brod, Naomi, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cooper, Nichola, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Devlin, Lisa, additional, Dewhurst, Eleanor, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Fox, James C., additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Hu, Fengyuan, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, James, Roger, additional, Jolles, Stephen, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Machado, Rajiv, additional, Mackenzie, Rob, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Megy, Karyn, additional, Michaelides, Michel, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Murphy, Elaine, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth, additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stephens, Jonathan, additional, Stirrups, Kathleen, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Watkins, Hugh, additional, Webster, Andrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional
Published: 2019
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22. Prognostic value of test(s) for O6 -methylguanine-DNA methyltransferase (MGMT) promoter methylation for predicting overall survival in people with glioblastoma treated with temozolomide

Author: McAleenan, Alexandra, primary, Howell, Amy, additional, Kernohan, Ashleigh, additional, Faulkner, Claire L, additional, Dawson, Sarah, additional, Wragg, Christopher, additional, Jefferies, Sarah, additional, Brandner, Sebastian, additional, Vale, Luke, additional, Higgins, Julian P T, additional, and Kurian, Kathreena M, additional
Published: 2019
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23. EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications

Author: Schwab, Claire, Ryan, Sarra L., Chilton, Lucy, Elliott, Alannah, Murray, James, Richardson, Stacey, Wragg, Christopher, Moppett, John, Cummins, Michelle, Tunstall, Oliver, Parker, Catriona A., Saha, Vaskar, Goulden, Nicholas, Vora, Ajay, Moorman, Anthony V., and Harrison, Christine J.
Published: 2016
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24. GENOMIC PROFILING OF PRIMARY AND MATCHED RECURRENT GLIOBLASTOMA TUMOURS REVEALS THAT THE MUTATIONAL LANDSCAPE INCLUDES CLINICALLY ACTIONABLE VARIATION

Author: McInerney, Caitríona, primary, Ellis, Hayley, additional, Schrinpf, Daniel, additional, Sahm, Felix, additional, Stupnikov, Alexei, additional, Wadsley, Marc, additional, Wragg, Christopher, additional, White, Paul, additional, McArt, Darragh, additional, and Kurian, Kathreena, additional
Published: 2018
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25. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Author: Meyer, Esther, Carss, Keren J., Rankin, Julia, Nichols, John M.E., Grozeva, Detelina, Joseph, Agnel P., Mencacci, Niccolo E., Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A., Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A., Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S., Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J., Peters, Gregory B., Prabhakar, Prab, Reuter, Miriam S., Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M., Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T.., Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J.H., Morrogh, Deborah, Pittman, Alan, Disorders Deciphering Developmental, Carr, Lucinda J., Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A., Toro, Camilo, Bhatia, Kailash P., Wood, Nicholas W., Kamsteeg, Erik-Jan, Chong, Wui K., Gissen, Paul, Topf, Maya, Dale, Russell C., Chubb, Jonathan R., Raymond, F. Lucy, and Kurian, Manju A.
Abstract: Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
Published: 2016

26. Mutational landscape of primary and recurrent glioblastoma reveals potentially actionable SNVs including WNT pathway variation

Author: Ellis, Hayley, primary, Sahm, Felix, additional, Schrimpf, Daniel, additional, Stupnikov, Alexei, additional, Wadsley, Mark, additional, Wragg, Christopher, additional, McArt, Darragh, additional, and Kurian, Kathreena, additional
Published: 2018
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27. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author: Faundes, Víctor, primary, Newman, William G., additional, Bernardini, Laura, additional, Canham, Natalie, additional, Clayton-Smith, Jill, additional, Dallapiccola, Bruno, additional, Davies, Sally J., additional, Demos, Michelle K., additional, Goldman, Amy, additional, Gill, Harinder, additional, Horton, Rachel, additional, Kerr, Bronwyn, additional, Kumar, Dhavendra, additional, Lehman, Anna, additional, McKee, Shane, additional, Morton, Jenny, additional, Parker, Michael J., additional, Rankin, Julia, additional, Robertson, Lisa, additional, Temple, I. Karen, additional, Banka, Siddharth, additional, Adam, Shelin, additional, du Souich, Christèle, additional, Elliott, Alison M., additional, Mwenifumbo, Jill, additional, Nelson, Tanya N., additional, van Karnebeek, Clara, additional, Friedman, Jan M., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, V.K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, and . Hurles, Matthew E., additional
Published: 2018
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28. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Author: McRae, Jeremy F, primary, Clayton, Stephen, additional, Fitzgerald, Tomas W, additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, AlejandroW, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M, additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D, additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E, additional, Singh, Tarjinder, additional, Tivey, Adrian R, additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J, additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clayton-Smith, Jill, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N, additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D'Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, AndrewW, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V.K Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A, additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J, additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Morton, Jenny, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O'Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J, additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T, additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellaker, Chris, additional, Firth, Helen V, additional, Wright, Caroline F, additional, FitzPatrick, David R, additional, Barrett, Jeffrey C, additional, and Hurles, Matthew E, additional
Published: 2016
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29. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher
Subjects: R Medicine (General), QD Chemistry, RS Pharmacy and materia medica
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.
Published: 2010

30. EBF1-PDGFRΒ Fusion in Paediatric Acute Lymphoblastic Leukaemia (ALL): Genetic Profile and Clinical Implications

Author: Schwab, Claire, primary, Andrews, Rebecca, additional, Chilton, Lucy, additional, Elliott, Alannah, additional, Keil, Gerald, additional, Richardson, Stacey, additional, Ryan, Sarra L., additional, Wragg, Christopher, additional, Moppett, John, additional, Cummins, Michelle, additional, Goulden, Nicholas, additional, Vora, Ajay J., additional, Moorman, Anthony V., additional, and Harrison, Christine J., additional
Published: 2014
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31. EGFR and EGFRvIII analysis in glioblastoma as therapeutic biomarkers

Author: Faulkner, Claire, primary, Palmer, Abigail, additional, Williams, Hannah, additional, Wragg, Christopher, additional, Haynes, Harry R., additional, White, Paul, additional, DeSouza, Ruth-Mary, additional, Williams, Maggie, additional, Hopkins, Kirsten, additional, and Kurian, Kathreena M., additional
Published: 2014
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32. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence forDYNC1I1exonic enhancers ofDLX5/6expression in humans

Author: Lango Allen, Hana, primary, Caswell, Richard, additional, Xie, Weijia, additional, Xu, Xiao, additional, Wragg, Christopher, additional, Turnpenny, Peter D, additional, Turner, Claire L S, additional, Weedon, Michael N, additional, and Ellard, Sian, additional
Published: 2014
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33. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Author: Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, and Kurian, Manju A
Abstract: Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
Published: 2017
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34. EBF1-PDGFRBfusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications

Author: Schwab, Claire, Ryan, Sarra L., Chilton, Lucy, Elliott, Alannah, Murray, James, Richardson, Stacey, Wragg, Christopher, Moppett, John, Cummins, Michelle, Tunstall, Oliver, Parker, Catriona A., Saha, Vaskar, Goulden, Nicholas, Vora, Ajay, Moorman, Anthony V., and Harrison, Christine J.
Abstract: The EBF1-PDGFRBgene fusion accounts for <1% of B-cell precursor acute lymphoblastic leukemia (ALL) cases and occurs within the Philadelphia-like ALL subtype. We report 15 EBF1-PDGFRB-positive patients from childhood ALL treatment trials (ALL 97/99, UKALL 2003, UKALL 2011) in the United Kingdom. The fusion arose from interstitial deletion of 5q33 (n = 11), balanced rearrangement (n = 2), or complex rearrangement (n = 2). There was a predominance of females (n = 11), median age of 12 years, and median white blood cell count of 48.8 × 109/L. Among 12 patients who achieved complete remission on earlier trials (ALL 97/99 and UKALL 2003), 10 were positive for minimal residual disease (MRD) at the end of induction, and 7 relapsed 18 to 59 months after diagnosis. The majority (9 of 12) remained alive 6 to 9 years after diagnosis. There are reports of EBF1-PDGFRB-positive patients who are refractory to conventional chemotherapy who achieve complete response when treated with the tyrosine kinase inhibitor imatinib. These findings have prompted screening for EBF1-PDGFRBin patients entered onto the current UKALL 2011 trial for whom induction therapy failed, who did not achieve remission by day 29, or who remained MRD positive (>0.5%) at week 14. Two UKALL 2011 patients, positive for EBF1-PDGFRB,received imatinib; 1 died 6 months after a matched unrelated bone marrow transplant as a result of undefined encephalopathy, and the other remained in remission 10 months after diagnosis.
Published: 2016
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35. EGFR and EGFRvlll analysis in glioblastoma as therapeutic biomarkers.

Author: Faulkner, Claire, Palmer, Abigail, Williams, Hannah, Wragg, Christopher, Haynes, Harry R., White, Paul, DeSouza, Ruth-Mary, Williams, Maggie, Hopkins, Kirsten, and Kurian, Kathreena M.
Subjects: GLIOMAS, GLIOBLASTOMA multiforme, EPIDERMAL growth factor receptors, CELL proliferation, REVERSE transcriptase polymerase chain reaction, IMMUNOHISTOCHEMISTRY
Abstract: Introduction. EGFR and EGFRvlll analysis is of current interest because of new EGFRvlll vaccine trials opened in the UK. EGFR activation promotes cellular proliferation via activation of MAPK and PI3K-Akt pathways. EGFRvlll is the most common variant resulting from an in-frame deletion of 801 bp, leading to constitutively active EGFR. Method. 51 glioblastoma samples from a cohort of 50 patients were tested for EGFR amplification by FISH and immunohistochemistry and EGFRvlll expression by reverse-transcriptase PCR (RT-PCR), and immunohistochemistry. EGFR and EGFRvlll expression was compared with Overall Survival in the cohort. Results. Overall 22/51 samples (43%) were positive for EGFR, 16/51 (31%) were positive for EGFRvlll and 13/51 (25%) were positive for both. 9/51 cases (18%) were positive for EGFR alone, and 3/51 (6%) were positive for EGFRvlll alone. Of the EGFR positive cases, 22/51 (43%) were positive by FISH, 24/51 (47%) were positive by IHC and 2/51 (4%) were discrepant between methods (positive by IHC but non-amplified by FISH). Of the EGFRvlll positive cases, 16/51 (31%) were positive by RT-PCR, 17/51 (33%) were positive by IHC and 1/51 (2%) sample was discrepant (positive by IHC but not by RT-PCR). Neither EGFRvlll or EGFR are predictive of overall survival in this cohort. Conclusion. In our cohort, 25/51 (49%) of GBM showed EGFR alterations, including 16/51 (31%) with EGFRvlll. There was high concordance between IHC and FISH (96%) and IHC and RT-PCR (98%) as diagnostic methods. Neither EGFR or EGFRvlll is predictive of overall survival in this cohort. These results are key for selecting patients for novel individualised anti-EGFR therapies. [ABSTRACT FROM AUTHOR]
Published: 2015
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36. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.

Author: Allen, Hana Lango, Caswell, Richard, Weijia Xie, Xiao Xu, Wragg, Christopher, Turnpenny, Peter D., Turner, Claire L. S., Weedon, Michael N., and Ellard, Sian
Subjects: FOOT abnormalities, HAND abnormalities, GENETICS, ANIMAL introduction, ARTIFICIAL limbs
Abstract: Objective Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of their phenotype. Methods and results The first proband has a de novo balanced translocation t(2;7)(p25.1;q22) identified by karyotyping. Whole genome sequencing showed that the chromosome 7 breakpoint is situated within the SHFM1 locus on chromosome 7q21.3. This separates the DYNC1I1 exons recently identified as limb enhancers in mouse studies from their target genes, DLX5 and DLX6. In the second family, X-linked recessive inheritance was suspected and exome sequencing was performed to search for a mutation in the affected proband and his uncle. No coding mutation was found within the SHFM2 locus at Xq26 or elsewhere in the exome, but a 106 kb deletion within the SHFM1 locus was detected through copy number analysis. Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted. Conclusions Exome sequencing identified a 106 kb deletion that narrows the SHFM1 critical region from 0.9 to 0.1 Mb and confirms a key role of DYNC1I1 exonic enhancers in normal limb formation in humans. [ABSTRACT FROM AUTHOR]
Published: 2014
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37. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Author: Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John ME, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon JH, Morrogh, Deborah, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, and Kurian, Manju A
Subjects: Male, Adolescent, Lysine, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Methylation, 3. Good health, DNA-Binding Proteins, Histones, Dystonia, Mutation, Histone Methyltransferases, Humans, Female
Abstract: Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.

38. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)

Author: Meyer, Esther, Carss, Keren J., Rankin, Julia, Nichols, John M. E., Grozeva, Detelina, Joseph, Agnel P., Mencacci, Niccolo E., Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A., Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A., Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, Mckee, Shane, Misra, Shibalik, Mohammed, Shekeeb S., Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J., Peters, Gregory B., Prabhakar, Prab, Reuter, Miriam S., Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M., Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T., Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J. H., Morrogh, Deborah, Alan Pittman, Carr, Lucinda J., Perez-Duenas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A., Toro, Camilo, Bhatia, Kailash P., Wood, Nicholas W., Kamsteeg, Erik-Jan, Chong, Wui K., Gissen, Paul, Topf, Maya, Dale, Russell C., Chubb, Jonathan R., Raymond, F. Lucy, Kurian, Manju A., Consortium, Uk K., Deciphering Dev Disorders Study, and Nihr, Bioresource Rare Dis Consorti

39. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher and Wragg, Christopher
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.

40. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher and Wragg, Christopher
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.

41. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher and Wragg, Christopher
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.

42. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher and Wragg, Christopher
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.

43. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher and Wragg, Christopher
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.

44. Evaluation of enzymatic techniques for screening amphetamines and alcohol in oral fluid

Author: Wragg, Christopher and Wragg, Christopher
Abstract: Evaluations of the Immunalysis enzyme linked immunosorbent assay (ELISA) and Immunalysis enzymatic assay for ethyl alcohol were undertaken to evaluate their suitability for screening drugs of abuse (namely amphetamine and methamphetamine) and alcohol in oral fluid samples collected with the Quantisal Collection Device. Multi-analyte controls were prepared for the drugs of abuse screen and diluted with Quantisal buffer prior to analysis to match the dilution in the Quantisal Oral Fluid Collection Device that was used to collect the samples. These samples were analysed over time to evaluate stability and case samples were analysed to evaluate sensitivity and specificity. Alcohol calibrators and controls were evaluated for linearity and stability before being applied to case samples to evaluate the sensitivity and specificity of the method. The amphetamine assay was found to be highly sensitive and specific. The methamphetamine assay was found to be highly specific but no positive samples were analysed so the sensitivity could not be evaluated. The multi-analyte controls were found to be stable over a fourteen month period. The Immunalysis ELISA assays were found to be suitable for screening oral fluid samples. The alcohol assay was found to be linear over the 0 – 300mg/dL range and the calibrators and controls were found to be stable over time. The assay was found to be highly sensitive and specific and best suited to high throughput laboratories expecting mainly negative samples. However, it would not be cost effective for smaller laboratories or those expecting a high number of positives, where going straight to confirmation by head-space gas chromatography with flame ionisation detection would be recommended.

45. Modern Mechanics: A Vectorial Approach

Author: Light, G. S., primary and Wragg, Christopher A. L., additional
Published: 1973
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46. Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Author: Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, and Kurian, Manju A
Published: 2017
Full Text: View/download PDF

47. EBF1-PDGFRΒFusion in Paediatric Acute Lymphoblastic Leukaemia (ALL): Genetic Profile and Clinical Implications

Author: Schwab, Claire, Andrews, Rebecca, Chilton, Lucy, Elliott, Alannah, Keil, Gerald, Richardson, Stacey, Ryan, Sarra L., Wragg, Christopher, Moppett, John, Cummins, Michelle, Goulden, Nicholas, Vora, Ajay J., Moorman, Anthony V., and Harrison, Christine J.
Abstract: Incorporating cytogenetics into risk stratification for the treatment of childhood ALL has contributed to increased survival rates. However 25% patients, the B-other subgroup, do not have any of the known major chromosomal abnormalities. Within this group, BCR-ABL1-like cases show a similar gene expression profile to those with BCR-ABL1fusion and share the same high risk of relapse. BCR-ABL1-like cases are genetically heterogeneous and some harbour tyrosine kinase activating gene fusions e.g. EBF1-PDGFRB. Recent reports suggest patients with EBF1-PDGFRBALL who are refractory to conventional therapy respond to the tyrosine kinase inhibitor (TKI), imatinib. Here we present 14 patients treated on ALL97 (n=3), UKALL2003 (n=10) or UKALL2011 (n=1) who were EBF1-PDGFRBpositive including 1 patient treated with imatinib.
Published: 2014
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