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Material Type: Artigo
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Substitution mutational signatures in whole-genome-sequenced cancers in the UK populationDegasperi, Andrea ; Zou, Xueqing ; Amarante, Tauanne Dias ; Martinez-Martinez, Andrea ; Koh, Gene Ching Chiek ; Dias, João M L ; Heskin, Laura ; Chmelova, Lucia ; Rinaldi, Giuseppe ; Wang, Valerie Ya Wen ; Nanda, Arjun S ; Bernstein, Aaron ; Momen, Sophie E ; Young, Jamie ; Perez-Gil, Daniel ; Memari, Yasin ; Badja, Cherif ; Shooter, Scott ; Czarnecki, Jan ; Brown, Matthew A ; Davies, Helen R ; Nik-Zainal, SerenaScience (American Association for the Advancement of Science), 2022-04, Vol.376 (6591) [Periódico revisado por pares]United States: The American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical featuresRobbe, Pauline ; Ridout, Kate E ; Vavoulis, Dimitrios V ; Dréau, Helene ; Kinnersley, Ben ; Denny, Nicholas ; Chubb, Daniel ; Appleby, Niamh ; Cutts, Anthony ; Cornish, Alex J ; Lopez-Pascua, Laura ; Clifford, Ruth ; Burns, Adam ; Stamatopoulos, Basile ; Cabes, Maite ; Alsolami, Reem ; Antoniou, Pavlos ; Oates, Melanie ; Cavalieri, Doriane ; Gibson, Jane ; Prabhu, Anika V ; Schwessinger, Ron ; Jennings, Daisy ; James, Terena ; Maheswari, Uma ; Duran-Ferrer, Martí ; Carninci, Piero ; Knight, Samantha J L ; Månsson, Robert ; Hughes, Jim ; Davies, James ; Ross, Mark ; Bentley, David ; Strefford, Jonathan C ; Devereux, Stephen ; Pettitt, Andrew R ; Hillmen, Peter ; Caulfield, Mark J ; Houlston, Richard S ; Martín-Subero, José I ; Schuh, AnnaNature genetics, 2022-11, Vol.54 (11), p.1675-1689 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related EpilepsyBacq, Alexandre ; Roussel, Delphine ; Bonduelle, Thomas ; Zagaglia, Sara ; Maletic, Marina ; Ribierre, Théo ; Adle-Biassette, Homa ; Marchal, Cécile ; Jennesson, Mélanie ; An, Isabelle ; Picard, Fabienne ; Navarro, Vincent ; Sisodiya, Sanjay M ; Baulac, StéphanieAnnals of neurology, 2022-01, Vol.91 (1), p.101-116 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approachBest, Sunayna ; Yu, Jing ; Lord, Jenny ; Roche, Matthew ; Watson, Christopher Mark ; Bevers, Roel P J ; Stuckey, Alex ; Madhusudhan, Savita ; Jewell, Rosalyn ; Sisodiya, Sanjay M ; Lin, Siying ; Turner, Stephen ; Robinson, Hannah ; Leslie, Joseph S ; Baple, Emma ; Toomes, Carmel ; Inglehearn, Chris ; Wheway, Gabrielle ; Johnson, Colin A ; Ambrose, JC ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, C R ; Brittain, H ; Brown, MA ; Caulfield, MJ ; Chan, GC ; Fowler, T ; Giess, A ; Hamblin, A ; Henderson, S ; Hubbard, TJP ; Jackson, R ; Jones, LJ ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, SEA ; Leong, IUS ; Lopez, FJ ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, AC ; O‘Donovan, P ; Odhams, CA ; Patch, C ; Perez-Gil, D ; Pereira, MB ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, RH ; Siddiq, A ; Sieghart, A ; Smith, SC ; Sosinsky, A ; Stuckey, A ; Tanguy, M ; Taylor Tavares, AL ; Thomas, ERA ; Thompson, SR ; Tucci, A ; Welland, MJ ; Williams, E ; Witkowska, K ; Wood, SMJournal of medical genetics, 2022-12, Vol.59 (12), p.1151-1164 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes ProjectWei, Yuguo ; Papachristou, Nikolaos ; Mueller, Stefanie ; Chang, Wai Hoong ; Lai, Alvina GBMC research notes, 2021-10, Vol.14 (1), p.385-385, Article 385 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathyLesurf, Robert ; Said, Abdelrahman ; Akinrinade, Oyediran ; Breckpot, Jeroen ; Delfosse, Kathleen ; Liu, Ting ; Yao, Roderick ; Persad, Gabrielle ; McKenna, Fintan ; Noche, Ramil R ; Oliveros, Winona ; Mattioli, Kaia ; Shah, Shreya ; Miron, Anastasia ; Yang, Qian ; Meng, Guoliang ; Yue, Michelle Chan Seng ; Sung, Wilson W L ; Thiruvahindrapuram, Bhooma ; Lougheed, Jane ; Oechslin, Erwin ; Mondal, Tapas ; Bergin, Lynn ; Smythe, John ; Jayappa, Shashank ; Rao, Vinay J ; Shenthar, Jayaprakash ; Dhandapany, Perundurai S ; Semsarian, Christopher ; Weintraub, Robert G ; Bagnall, Richard D ; Ingles, Jodie ; Melé, Marta ; Maass, Philipp G ; Ellis, James ; Scherer, Stephen W ; Mital, SeemaNpj genomic medicine, 2022-03, Vol.7 (1), p.18-18, Article 18 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Late diagnoses of Dravet syndrome: How many individuals are we missing?Silvennoinen, Katri ; Puvirajasinghe, Clinda ; Hudgell, Kirsty ; Sidhu, Meneka K. ; Martins Custodio, Helena ; Jones, Wendy D. ; Balestrini, Simona ; Sisodiya, Sanjay M. ; Ambrose, J. C. ; Arumugam, P. ; Baple, E. L. ; Bleda, M. ; Boardman‐Pretty, F. ; Boissiere, J. M. ; Boustred, C. R. ; Caulfield, M. J. ; Chan, G. C. ; Craig, C. E. H. ; Daugherty, L. C. ; de Burca, A. ; Devereau, A. ; Elgar, G. ; Foulger, R. E. ; Fowler, T. ; Furió‐Tarí, P. ; Hackett, J. M. ; Halai, D. ; Hamblin, A. ; Henderson, S. ; Holman, J. E. ; Hubbard, T. J. P. ; Ibáñez, K. ; Jackson, R. ; Jones, L. J. ; Kasperaviciute, D. ; Kayikci, M. ; Lahnstein, L. ; Lawson, K. ; Leigh, S. E. A. ; Leong, I. U. S. ; Lopez, F. J. ; Maleady‐Crowe, F. ; Mason, J. ; McDonagh, E. M. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A. C. ; Odhams, C. A. ; Patch, C. ; Perez‐Gil, D. ; Polychronopoulos, D. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Riesgo‐Ferreiro, P. ; Rogers, T. ; Ryten, M. ; Savage, K. ; Sawant, K. ; Scott, R. H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K. R. ; Sosinsky, A. ; Spooner, W. ; Stevens, H. E. ; Stuckey, A. ; Sultana, R. ; Thomas, E. R. A. ; Thompson, S. R. ; Tucci, A. ; Walsh, E. ; Watters, S. A. ; Welland, M. J. ; Williams, E. ; Witkowska, K.Epilepsia Open, 2021-12, Vol.6 (4), p.770-776 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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A novel likely pathogenic CLCN5 variant in Dent’s diseaseHayward, S ; Norton, J ; Bownass, L ; Platt, C ; Ambrose, J. C ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, C. R ; Brittain, H ; Brown, M. A ; Caulfield, M. J ; Chan, G. C ; Giess, A ; Griffin, J. N ; Hamblin, A ; Henderson, S ; Hubbard, T. J. P ; Jackson, R ; Jones, L. J ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Lakey, A ; Leigh, S. E. A ; Leong, I. U. S ; Lopez, F. J ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Mitchell, J ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, A. C ; O'Donovan, P ; Odhams, C. A ; Patch, C ; Perez-Gil, D ; Pereira, M. B ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, R. H ; Siddiq, A ; Sieghart, A ; Smith, S. C ; Sosinsky, A ; Stuckey, A ; Tanguy, M ; Taylor Tavares, A. L ; Thomas, E. R. A ; Thompson, S. R ; Tucci, A ; Welland, M. J ; Williams, E ; Witkowska, K ; Wood, S. M ; Zarowiecki, MBMC nephrology, 2023-08, Vol.24 (1), p.1-256, Article 256 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |