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A machine learning classifier to identify and prioritise genes associated with murine cardiac development 一种机器学习分类器，用于识别和优先排序与小鼠心脏发育相关联的基因 Kabir, Mitra; Hartill, Verity; Farr, Gist H.; Qureshi, Wasay Mohiuddin Shaikh; Baross, Stephanie L.; Doig, Andrew J.; Talavera, David; Waterfield, Michael R.; Keavney, Bernard D.; Maves, Lisa; Johnson, Colin A.; Hentges, Kathryn E. 分享 收藏
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Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project Hartill, Verity; Kabir, Mitra; Best, Sunayna; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L.; Lord, Jenny; Yu, Jing; Sasaki, Erina; Needham, Hazel; Shears, Deborah; Roche, Matthew; Wall, Elizabeth; Cooper, Nicola; Ryan, Gavin; Eason, Jacqueline; Johnson, Robert; Keavney, Bernard; Hentges, Kathryn E.; Johnson, Colin A. 分享 收藏
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PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5-splice-site selection causing tissue-specific defects Atkinson, Robert; Georgiou, Maria; Yang, Chunbo; Szymanska, Katarzyna; Lahat, Albert; Vasconcelos, Elton J. R.; Ji, Yanlong; Molina, Marina Moya; Collin, Joseph; Queen, Rachel; Dorgau, Birthe; Watson, Avril; Kurzawa-Akanbi, Marzena; Laws, Ross; Saxena, Abhijit; Beh, Chia Shyan; Siachisumo, Chileleko; Goertler, Franziska; Karwatka, Magdalena; Davey, Tracey; Inglehearn, Chris F.; Mckibbin, Martin; Luehrmann, Reinhard; Steel, David H.; Elliott, David J.; Armstrong, Lyle; Urlaub, Henning; Ali, Robin R.; Grellscheid, Sushma-Nagaraja; Johnson, Colin A.; Mozaffari-Jovin, Sina; Lako, Majlinda 分享 收藏
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy IDHwt胶质母细胞瘤可以通过其对标准治疗的转录反应进行分层，对靶向治疗有影响 Tanner, Georgette; Barrow, Rhiannon; Ajaib, Shoaib; Al-Jabri, Muna; Ahmed, Nazia; Pollock, Steven; Finetti, Martina; Rippaus, Nora; Bruns, Alexander F.; Syed, Khaja; Poulter, James A.; Matthews, Laura; Hughes, Thomas; Wilson, Erica; Johnson, Colin; Varn, Frederick S.; Bruning-Richardson, Anke; Hogg, Catherine; Droop, Alastair; Gusnanto, Arief; Care, Matthew A.; Cutillo, Luisa; Westhead, David R.; Short, Susan C.; Jenkinson, Michael D.; Brodbelt, Andrew; Chakrabarty, Aruna; Ismail, Azzam; Verhaak, Roel G. W.; Stead, Lucy F. 分享 收藏
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The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase SHDRA综合征相关基因TMEM260编码蛋白质特异性O-甘露糖基转移酶 Larsen, Ida Signe Bohse; Povolo, Lorenzo; Zhou, Luping; Tian, Weihua; Mygind, Kasper Johansen; Hintze, John; Jiang, Chen; Hartill, Verity; Prescott, Katrina; Johnson, Colin A.; V. Mullegama, Sureni; McConkie-Rosell, Allyn; McDonald, Marie; Hansen, Lars; Vakhrushev, Sergey Y.; Schjoldager, Katrine T.; Clausen, Henrik; Worzfeld, Thomas; Joshi, Hiren J.; Halim, Adnan 分享 收藏
DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1-rs1 Gregory, RI; Randall, TE; Johnson, CA; Khosla, S; Hatada, I; O'Neill, LP; Turner, BM; Feil, R 分享 收藏
Content validity of the EORTC quality of life questionnaire QLQ-C30 for use in cancer Cocks, Kim; Wells, Jane R.; Johnson, Colin; Schmidt, Heike; Koller, Michael; Oerlemans, Simone; Velikova, Galina; Pinto, Monica; Tomaszewski, Krzysztof A.; Aaronson, Neil K.; Exall, Elizabeth; Finbow, Chelsea; Fitzsimmons, Deborah; Grant, Laura; Groenvold, Mogens; Tolley, Chloe; Wheelwright, Sally; Bottomley, Andrew 分享 收藏
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach Best, 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. 分享 收藏
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells Georgiou, Maria; Yang, Chunbo; Atkinson, Robert; Pan, Kuan-Ting; Buskin, Adriana; Molina, Marina Moya; Collin, Joseph; Al-Aama, Jumana; Goertler, Franziska; Ludwig, Sebastian E. J.; Davey, Tracey; Luhrmann, Reinhard; Nagaraja-Grellscheid, Sushma; Johnson, Colin A.; Ali, Robin; Armstrong, Lyle; Korolchuk, Viktor; Urlaub, Henning; Mozaffari-Jovin, Sina; Lako, Majlinda 分享 收藏
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease Elpidorou, Marilena; Poulter, James A.; Szymanska, Katarzyna; Baron, Wia; Junger, Katrin; Boldt, Karsten; Ueffing, Marius; Green, Lydia; Livingston, John H.; Sheridan, Eammon G.; Johnson, Colin A. 分享 收藏
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Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1 纤毛蛋白MKS1和E2泛素结合酶UBE2E1对经典Wnt信号的调节 Szymanska, Katarzyna; Boldt, Karsten; Logan, Clare, V; Adams, Matthew; Robinson, Philip A.; Ueffing, Marius; Zeqiraj, Elton; Wheway, Gabrielle; Johnson, Colin A. 分享 收藏
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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project 100,000基因组计划的纤毛病队列引起的先天性畸形的分子诊断 Best, Sunayna; Lord, Jenny; Roche, Matthew; Watson, Christopher M.; Poulter, James A.; Bevers, Roel P. J.; Stuckey, Alex; Szymanska, Katarzyna; Ellingford, Jamie M.; Carmichael, Jenny; Brittain, Helen; Toomes, Carmel; Inglehearn, Chris; Johnson, Colin A.; Wheway, Gabrielle 分享 收藏
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