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1 |
Material Type: Artigo
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Mutational signature in colorectal cancer caused by genotoxic pks + E. coliPleguezuelos-Manzano, Cayetano ; Puschhof, Jens ; Rosendahl Huber, Axel ; van Hoeck, Arne ; Wood, Henry M ; Nomburg, Jason ; Gurjao, Carino ; Manders, Freek ; Dalmasso, Guillaume ; Stege, Paul B ; Paganelli, Fernanda L ; Geurts, Maarten H ; Beumer, Joep ; Mizutani, Tomohiro ; Miao, Yi ; van der Linden, Reinier ; van der Elst, Stefan ; Garcia, K Christopher ; Top, Janetta ; Willems, Rob J L ; Giannakis, Marios ; Bonnet, Richard ; Quirke, Phil ; Meyerson, Matthew ; Cuppen, Edwin ; van Boxtel, Ruben ; Clevers, HansNature (London), 2020-04, Vol.580 (7802), p.269-273 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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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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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei, Wei ; Pagnamenta, Alistair T ; Gleadall, Nicholas ; Sanchis-Juan, Alba ; Stephens, Jonathan ; Broxholme, John ; Tuna, Salih ; Odhams, Christopher A ; Fratter, Carl ; Turro, Ernest ; Caulfield, Mark J ; Taylor, Jenny C ; Rahman, Shamima ; Chinnery, Patrick FNature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersRowlands, Charlie ; Thomas, Huw B ; Lord, Jenny ; Wai, Htoo A ; Arno, Gavin ; Beaman, Glenda ; Sergouniotis, Panagiotis ; Gomes-Silva, Beatriz ; Campbell, Christopher ; Gossan, Nicole ; Hardcastle, Claire ; Webb, Kevin ; O'Callaghan, Christopher ; Hirst, Robert A ; Ramsden, Simon ; Jones, Elizabeth ; Clayton-Smith, Jill ; Webster, Andrew R ; Douglas, Andrew G L ; O'Keefe, Raymond T ; Newman, William G ; Baralle, Diana ; Black, Graeme C M ; Ellingford, Jamie MScientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for visionChrystal, Paul W ; Lambacher, Nils J ; Doucette, Lance P ; Bellingham, James ; Schiff, Elena R ; Noel, Nicole C L ; Li, Chunmei ; Tsiropoulou, Sofia ; Casey, Geoffrey A ; Zhai, Yi ; Nadolski, Nathan J ; Majumder, Mohammed H ; Tagoe, Julia ; D'Esposito, Fabiana ; Cordeiro, Maria Francesca ; Downes, Susan ; Clayton-Smith, Jill ; Ellingford, Jamie ; Mahroo, Omar A ; Hocking, Jennifer C ; Cheetham, Michael E ; Webster, Andrew R ; Jansen, Gert ; Blacque, Oliver E ; Allison, W Ted ; Au, Ping Yee Billie ; MacDonald, Ian M ; Arno, Gavin ; Leroux, Michel RNature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersGracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian ; Maroofian, Reza ; Espana-Bonilla, Paula ; Lee, Chul-Hwan ; Zhang, Shuo ; Padilla, Natàlia ; Fueyo, Raquel ; Waxman, Elisa A ; Lei, Sunyimeng ; Otrimski, Garrett ; Li, Dong ; Sheppard, Sarah E ; Mark, Paul ; Harr, Margaret H ; Hakonarson, Hakon ; Rodan, Lance ; Jackson, Adam ; Vasudevan, Pradeep ; Powel, Corrina ; Mohammed, Shehla ; Maddirevula, Sateesh ; Alzaidan, Hamad ; Faqeih, Eissa A ; Efthymiou, Stephanie ; Turchetti, Valentina ; Rahman, Fatima ; Maqbool, Shazia ; Salpietro, Vincenzo ; Ibrahim, Shahnaz H ; di Rosa, Gabriella ; Houlden, Henry ; Alharbi, Maha Nasser ; Al-Sannaa, Nouriya Abbas ; Bauer, Peter ; Zifarelli, Giovanni ; Estaras, Conchi ; Hurst, Anna C E ; Thompson, Michelle L ; Chassevent, Anna ; Smith-Hicks, Constance L ; de la Cruz, Xavier ; Holtz, Alexander M ; Elloumi, Houda Zghal ; Hajianpour, M J ; Rieubland, Claudine ; Braun, Dominique ; Banka, Siddharth ; French, Deborah L ; Heller, Elizabeth A ; Saade, Murielle ; Song, Hongjun ; Ming, Guo-Li ; Alkuraya, Fowzan S ; Agrawal, Pankaj B ; Reinberg, Danny ; Bhoj, Elizabeth J ; Martínez-Balbás, Marian A ; Akizu, NaiaraNature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingMacken, William L ; Falabella, Micol ; McKittrick, Caroline ; Pizzamiglio, Chiara ; Ellmers, Rebecca ; Eggleton, Kelly ; Woodward, Cathy E ; Patel, Yogen ; Labrum, Robyn ; Phadke, Rahul ; Reilly, Mary M ; DeVile, Catherine ; Sarkozy, Anna ; Footitt, Emma ; Davison, James ; Rahman, Shamima ; Houlden, Henry ; Bugiardini, Enrico ; Quinlivan, Rosaline ; Hanna, Michael G ; Vandrovcova, Jana ; Pitceathly, Robert D SNature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndromeGibson, Joel T ; Huang, Mary ; Shenelli Croos Dabrera, Marina ; Shukla, Krushnam ; Rothe, Hansjörg ; Hilbert, Pascale ; Deltas, Constantinos ; Storey, Helen ; Lipska-Ziętkiewicz, Beata S ; Chan, Melanie M Y ; Sadeghi-Alavijeh, Omid ; Gale, Daniel P ; Cerkauskaite, Agne ; Savige, JudyScientific reports, 2022-02, Vol.12 (1), p.2722-13, Article 2722 [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.9369-12, Article 9369 [Periódico revisado por pares]England: Nature Publishing GroupTexto 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 |