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Digital pathology in pediatric nodular lymphocyte-predominant Hodgkin lymphoma: correlation with treatment response Sereda, Sergej; Shankar, Ananth; Weber, Luise; Ramsay, Alan D.; Hall, Georgina W.; Hayward, Janis; Wallace, William Hamish B.; Landman-Parker, Judith; Braeuninger, Andreas; Hasenclever, Dirk; Schneider, Astrid; Mauz-Koerholz, Christine; Koerholz, Dieter; Gattenloehner, Stefan 分享 收藏
Emicizumab prophylaxis in haemophilia A with inhibitors: Three years follow-up from the UK Haemophilia Centre Doctors' Organisation (UKHCDO) Emicizumab预防a型血友病抑制剂: 来自英国血友病中心医生组织 (UKHCDO) 的三年随访 Wall, Caroline; Xiang, Hua; Palmer, Ben; Chalmers, Elizabeth; Chowdary, Pratima; Collins, Peter W.; Fletcher, Simon; Hall, Georgina W.; Hart, Daniel P.; Mathias, Mary; Sartain, Paul; Shapiro, Susan; Stephensen, David; Talks, Kate; Hay, Charles R. M. 分享 收藏
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia Taylor, Rachel L.; Soriano, Carla Sanjuro; Williams, Simon; Dzulova, Denisa; Ashworth, Jane; Hall, Georgina; Gale, Theodora; Lloyd, I. Christopher; Inglehearn, Chris F.; Toomes, Carmel; Douzgou, Sofia; Black, Graeme C. 分享 收藏
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders (vol 22, pg 745, 2020) Lenassi, Eva; Clayton-Smith, Jill; Douzgou, Sofia; Ramsden, Simon C.; Ingram, Stuart; Hall, Georgina; Hardcastle, Claire L.; Fletcher, Tracy A.; Taylor, Rachel L.; Ellingford, Jamie M.; Newman, William D.; Fenerty, Cecilia; Sharma, Vinod; Lloyd, I. Chris; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. 分享 收藏
Immune tolerance induction in severe haemophilia A: A UKHCDO inhibitor and paediatric working party consensus update 严重血友病A的免疫耐受诱导: UKHCDO抑制剂和儿科工作组共识更新 Hart, Daniel P.; Alamelu, Jayanthi; Bhatnagar, Neha; Biss, Tina; Collins, Peter W.; Hall, Georgina; Hay, Charles; Liesner, Ri; Makris, Michael; Mathias, Mary; Motwani, Jayashree; Palmer, Ben; Payne, Jeanette; Percy, Charles; Richards, Michael; Riddell, Anne; Talks, Kate; Tunstall, Oliver; Chalmers, Elizabeth 分享 收藏
Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia Turati, Virginia A.; Guerra-Assuncao, Jose Afonso; Potter, Nicola E.; Gupta, Rajeev; Ecker, Simone; Daneviciute, Agne; Tarabichi, Maxime; Webster, Amy P.; Ding, Chuling; May, Gillian; James, Chela; Brown, John; Conde, Lucia; Russell, Lisa J.; Ancliff, Phil; Inglott, Sarah; Cazzaniga, Giovanni; Biondi, Andrea; Hall, Georgina W.; Lynch, Mark; Hubank, Mike; Macaulay, Iain; Beck, Stephan; Van Loo, Peter; Jacobsen, Sten E.; Greaves, Mel; Herrero, Javier; Enver, Tariq 分享 收藏
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders Lenassi, Eva; Clayton-Smith, Jill; Douzgou, Sofia; Ramsden, Simon C.; Ingram, Stuart; Hall, Georgina; Hardcastle, Claire L.; Fletcher, Tracy A.; Taylor, Rachel L.; Ellingford, Jamie M.; Newman, William D.; Fenerty, Cecilia; Sharma, Vinod; Lloyd, I. Chris; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. 分享 收藏
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Clinical and genetic variability in children with partial albinism Campbell, Patrick; Ellingford, Jamie M.; Parry, Neil R. A.; Fletcher, Tracy; Ramsden, Simon C.; Gale, Theodora; Hall, Georgina; Smith, Katherine; Kasperaviciute, Dalia; Thomas, Ellen; Lloyd, I. Chris; Douzgou, Sofia; Clayton-Smith, Jill; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C. M.; Sergouniotis, Panagiotis I. 分享 收藏
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen 影响交替编码的因子H样1蛋白的CFH基因的功能丧失突变导致显性早发性黄斑玻璃疣 Taylor, Rachel L.; Poulter, James A.; Downes, Susan M.; McKibbin, Martin; Khan, Kamron N.; Inglehearn, Chris F.; Webster, Andrew R.; Hardcastle, Alison J.; Michaelides, Michel; Bishop, Paul N.; Clark, Simon J.; Black, Graeme C.; Black, Graeme; Hall, Georgina; Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Webster, Andrew; Hardcastle, Alison; Plagnol, Vincent; Pontikos, Nikolas; Cheetham, Michael; Arno, Gavin; Fiorentino, Alessia; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Smith, Claire; Khan, Kamron; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica 分享 收藏
Treatment of bleeding episodes in haemophilia A complicated by a factor VIII inhibitor in patients receiving Emicizumab. Interim guidance from UKHCDO Inhibitor Working Party and Executive Committee Collins, P. W.; Liesner, R.; Makris, M.; Talks, K.; Chowdary, P.; Chalmers, E.; Hall, G.; Riddell, A.; Percy, C. L.; Hay, C. R.; Hart, D. P. 分享 收藏
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing Innes, Josie; Reali, Lisa; Clayton-Smith, Jill; Hall, Georgina; Lim, Derek H. K.; Burghel, George J.; French, Kim; Khan, Unzela; Walker, Daniel; Lalloo, Fiona; Evans, D. Gareth R.; McMullan, Dominic; Maher, Eamonn R.; Woodward, Emma R. 分享 收藏
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Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease Taylor, Rachel L.; Parry, Neil R. A.; Barton, Stephanie J.; Campbell, Christopher; Delaney, Claire M.; Ellingford, Jamie M.; Hall, Georgina; Hardcastle, Claire; Morarji, Jiten; Nichol, Elisabeth J.; Williams, Lindsi C.; Douzgou, Sofia; Clayton-Smith, Jill; Ramsden, Simon C.; Sharma, Vinod; Biswas, Susmito; Lloyd, I. Chris; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. 分享 收藏
The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors Middleton, Anna; Marks, Peter; Bruce, Anita; Protheroe-Davies, Liwsi K.; King, Cath; Claber, Oonagh; Houghton, Catherine; Giffney, Claire; Macleod, Rhona; Dolling, Claire; Kenwrick, Sue; Scotcher, Diana; Hall, Georgina; Patch, Christine; Boyes, Laura 分享 收藏
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity Sergouniotis, Panagiotis I.; Barton, Stephanie J.; Waller, Sarah; Perveen, Rahat; Ellingford, Jamie M.; Campbell, Christopher; Hall, Georgina; Gillespie, Rachel L.; Bhaskar, Sanjeev S.; Ramsden, Simon C.; Black, Graeme C.; Lovell, Simon C. 分享 收藏
Molecular findings from 537 individuals with inherited retinal disease 来自537名遗传性视网膜疾病患者的分子发现 Ellingford, Jamie M.; Barton, Stephanie; Bhaskar, Sanjeev; O'Sullivan, James; Williams, Simon G.; Lamb, Janine A.; Panda, Binay; Sergouniotis, Panagiotis I.; Gillespie, Rachel L.; Daiger, Stephen P.; Hall, Georgina; Gale, Theodora; Lloyd, I. Christopher; Bishop, Paul N.; Ramsden, Simon C.; Black, Graeme C. M. 分享 收藏
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