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11 |
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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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes ProjectMoore, A Rachel ; Yu, Jing ; Pei, Yang ; Cheng, Emily W Y ; Taylor Tavares, Ana Lisa ; Walker, Woolf T ; Thomas, N Simon ; Kamath, Arveen ; Ibitoye, Rita ; Josifova, Dragana ; Wilsdon, Anna ; Ross, Alison ; Calder, Alistair D ; Offiah, Amaka C ; Wilkie, Andrew O M ; Taylor, Jenny C ; Pagnamenta, Alistair TJournal of medical genetics, 2023-12, Vol.60 (12), p.1235-1244 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto 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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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersLenassi, Eva ; Carvalho, Ana ; Thormann, Anja ; Abrahams, Liam ; Arno, Gavin ; Fletcher, Tracy ; Hardcastle, Claire ; Lopez, Javier ; Hunt, Sarah E ; Short, Patrick ; Sergouniotis, Panagiotis I ; Michaelides, Michel ; Webster, Andrew ; Cunningham, Fiona ; Ramsden, Simon C ; Kasperaviciute, Dalia ; Fitzpatrick, David R ; Black, Graeme C ; Ellingford, Jamie M ; 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, MJournal of medical genetics, 2023-08, Vol.60 (8), p.810-818 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes ProjectWheway, Gabrielle ; Mitchison, Hannah MFrontiers in genetics, 2019-03, Vol.10, p.127 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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Material Type: Artigo
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyParry, David A ; Martin, Carol-Anne ; Greene, Philip ; Marsh, Joseph A ; Blyth, Moira ; Cox, Helen ; Donnelly, Deirdre ; Greenhalgh, Lynn ; Greville-Heygate, Stephanie ; Harrison, Victoria ; Lachlan, Katherine ; McKenna, Caoimhe ; Quigley, Alan J ; Rea, Gillian ; Robertson, Lisa ; Suri, Mohnish ; Jackson, Andrew PGenetics in medicine, 2021-02, Vol.23 (2), p.408-414 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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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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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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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) functionTooze, Rebecca S ; Calpena, Eduardo ; Twigg, Stephen R F ; D'Arco, Felice ; Wakeling, Emma L ; Wilkie, Andrew O MJournal of medical genetics, 2023-07, Vol.60 (7), p.712-716 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |