日期:
2020 年 — 2026 年
2020
2021
2022
2023
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2025
2026
影响因子:

Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Hybrid Posters

第56届欧洲人类遗传学会(ESHG)会议摘要:混合海报

Bourke, John P; Bueser, Teofila; Quinlivan, Rosaline

Overarching Priorities for Health and Care Research in the United Kingdom: A Coproduced Synthesis of James Lind Alliance 'Top 10s'

英国卫生和护理研究的总体优先事项:詹姆斯·林德联盟“十大优先事项”的共同综合报告

Crocker, Joanna C; Moore, Lucy; Ogden, Margaret; Crowe, Sally; Khan, Maaz; Schoemaker, Casper; Roy, Noémi B A; Taylor, Mark; Gronlund, Toto; Bueser, Teofila; Tatum, Madeline; Davies, Benjamin; Finlay, Teresa

Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals

关于遗传性ATTR淀粉样变性整体护理的共识建议:一项针对患者权益倡导者和多学科医疗保健专业人员的国际德尔菲调查

Obici, Laura; Callaghan, Rosaline; Ablett, Joanne; Bibiloni, Catilena; Bueser, Teofila; Conceição, Isabel; Dongiglio, Francesca; Farrugia, Agnès; Knebel, Fabian; Lane, Thirusha; Larsson, Lars-Ove; Morier, Agnès; Nicholas, Vincent; Coelho, Teresa

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

10万基因组计划在医疗保健领域罕见病诊断方面的试点项目——初步报告

Smedley, Damian; Smith, Katherine R; Martin, Antonio; Thomas, Ellen A; McDonagh, Ellen M; Cipriani, Valentina; Ellingford, Jamie M; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmström, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Gräf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L T; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E; Daugherty, Louise C; Niblock, Olivia; Leong, Ivone U S; Wright, Caroline F; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J; Humphray, Sean J; Robinson, Peter N; Haendel, Melissa; Simpson, Michael A; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B; O'Keefe, Raymond T; Michaelides, Michel; Moore, Anthony T; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C; Straub, Volker; Gorman, Gráinne S; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M; Yu-Wai-Man, Patrick; Turnbull, Doug M; McFarland, Robert; Taylor, Robert W; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R; Polke, James; Wood, Nicholas W; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Németh, Andrea H; Palles, Claire; Patel, Smita; Roy, Noemi B A; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O; Seaby, Eleanor G; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I Karen; Mumford, Andrew D; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R; Brennan, Paul; Burn, John; Chinnery, Patrick F; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A; Taylor, Jenny C; Webster, Andrew R; Wilkie, Andrew O M; Ouwehand, Willem H; Raymond, F Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H; Fowler, Tom; Rendon, Augusto; Caulfield, Mark

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

对来自肌节阴性病例基因组测序数据的51个拟议肥厚型心肌病基因进行分析,其诊断价值微乎其微。

Thomson, Kate L; Ormondroyd, Elizabeth; Harper, Andrew R; Dent, Tim; McGuire, Karen; Baksi, John; Blair, Edward; Brennan, Paul; Buchan, Rachel; Bueser, Teofila; Campbell, Carolyn; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew; Deevi, Sri V V; Goodship, Judith; Hayesmoore, Jesse B G; Henderson, Alex; Lamb, Teresa; Prasad, Sanjay; Rayner-Matthews, Paula; Robert, Leema; Sneddon, Linda; Stark, Hannah; Walsh, Roddy; Ware, James S; Farrall, Martin; Watkins, Hugh C

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

利用靶向外显子测序进行分子尸检对猝死综合征患者进行诊断的效能

Nunn, Laurence M; Lopes, Luis R; Syrris, Petros; Murphy, Cian; Plagnol, Vincent; Firman, Eileen; Dalageorgou, Chrysoula; Zorio, Esther; Domingo, Diana; Murday, Victoria; Findlay, Iain; Duncan, Alexis; Carr-White, Gerry; Robert, Leema; Bueser, Teofila; Langman, Caroline; Fynn, Simon P; Goddard, Martin; White, Anne; Bundgaard, Henning; Ferrero-Miliani, Laura; Wheeldon, Nigel; Suvarna, Simon K; O'Beirne, Aliceson; Lowe, Martin D; McKenna, William J; Elliott, Perry M; Lambiase, Pier D