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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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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasisShoemark, Amelia ; Griffin, Helen ; Wheway, Gabrielle ; Hogg, Claire ; Lucas, Jane S ; Camps, Carme ; Taylor, Jenny ; Carroll, Mary ; Loebinger, Michael R ; Chalmers, James D ; Morris-Rosendahl, Deborah ; Mitchison, Hannah M ; De Soyza, Anthony ; Brown, D ; Ambrose, J C ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, C R ; Brittain, H ; Caulfield, M J ; Chan, G C ; Fowler, T ; Giess, A ; Hamblin, A ; Henderson, S ; Hubbard, T J P ; Jackson, R ; Jones, L J ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, S E A ; Leong, I U S ; Lopez, F J ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; 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 MThe European respiratory journal, 2022-11, Vol.60 (5), p.2200176 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancerTrotman, Jamie ; Armstrong, Ruth ; Firth, Helen ; Trayers, Claire ; Watkins, James ; Allinson, Kieren ; Jacques, Thomas S ; Nicholson, James C ; Burke, G A Amos ; Behjati, Sam ; Murray, Matthew J ; Hook, Catherine E ; Tarpey, PatrickBritish journal of cancer, 2022-07, Vol.127 (1), p.137-144 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Experimental Study of the Cooling of Electrical Components Using Water Film EvaporationHarmand, S. ; Gil, D. Pérez ; Zouitene, S. ; Remmerie, L. ; Benazzouz, T. ; Cardarelli, F.Advances in Mechanical Engineering, 2012, Vol.4, p.183853 [Periódico revisado por pares]London, England: SAGE PublicationsTexto completo disponível |
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Material Type: Artigo
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectSeaby, Eleanor G. ; Thomas, N. Simon ; Webb, Amy ; Brittain, Helen ; Taylor Tavares, Ana Lisa ; Baralle, Diana ; Rehm, Heidi L. ; O’Donnell-Luria, Anne ; Ennis, SarahHuman genetics, 2023-03, Vol.142 (3), p.351-362 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Assessing the digenic model in rare disorders using population sequencing dataMoreno-Ruiz, Nerea ; Lao, Oscar ; Aróstegui, Juan Ignacio ; Laayouni, Hafid ; Casals, FerranEuropean journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1439-1443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an updateMcGuigan, Anthony ; Whitworth, James ; Andreou, Avgi ; Hearn, Timothy ; Tischkowitz, Marc ; Maher, Eamonn REuropean journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.265-270 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)Leggatt, Gary ; Cheng, Guo ; Narain, Sumit ; Briseño-Roa, Luis ; Annereau, Jean-Philippe ; Gast, Christine ; Gilbert, Rodney D ; Ennis, SarahScientific reports, 2023-06, Vol.13 (1), p.9369-9369, Article 9369 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtypingSanjaya, Prima ; Maljanen, Katri ; Katainen, Riku ; Waszak, Sebastian M ; Aaltonen, Lauri A ; Stegle, Oliver ; Korbel, Jan O ; Pitkänen, EsaGenome medicine, 2023-07, Vol.15 (1), p.47-47, Article 47 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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EXOSOMAL MICRORNA PROFILE IN HYPERTENSIVE PATIENTS WITH ALBUMINURIAPerez-Hernandez, J ; Olivares, D ; Solaz, E ; Martinez, F ; Pichler, G ; Chaves, F.J ; Riffo, A ; Perez-Gil, D ; Cortes, R ; Redon, JJournal of hypertension, 2018-06, Vol.36 Suppl 1 - ESH 2018 Abstract Book (Supplement 1), p.e121-e121 [Periódico revisado por pares]Copyright Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |