日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort

在英国一项全国性队列研究中,探讨极端神经性疼痛疾病的基因型-表型关系

Andreas C Themistocleous ,Georgios Baskozos ,Iulia Blesneac ,Maddalena Comini ,Karyn Megy ,Sam Chong ,Sri V V Deevi ,Lionel Ginsberg ,David Gosal ,Robert D M Hadden ,Rita Horvath ,Mohamed Mahdi-Rogers ,Adnan Manzur ,Rutendo Mapeta ,Andrew Marshall ,Emma Matthews ,Mark I McCarthy ,Mary M Reilly ,Tara Renton ,Andrew S C Rice ,Tom A Vale ,Natalie van Zuydam ,Suellen M Walker ,Christopher Geoffrey Woods ,David L H Bennett

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

TBX4综合征首个基因型-表型研究:功能获得性突变导致肺部疾病

Prapa, Matina; Lago-Docampo, Mauro; Swietlik, Emilia M; Montani, David; Eyries, Mélanie; Humbert, Marc; Welch, Carrie L; Chung, Wendy K; Berger, Rolf M F; Bogaard, Harm Jan; Danhaive, Olivier; Escribano-Subías, Pilar; Gall, Henning; Girerd, Barbara; Hernandez-Gonzalez, Ignacio; Holden, Simon; Hunt, David; Jansen, Samara M A; Kerstjens-Frederikse, Wilhelmina; Kiely, David G; Lapunzina, Pablo; McDermott, John; Moledina, Shahin; Pepke-Zaba, Joanna; Polwarth, Gary J; Schotte, Gwen; Tenorio-Castaño, Jair; Thompson, A A Roger; Wharton, John; Wort, Stephen J; Megy, Karyn; Mapeta, Rutendo; Treacy, Carmen M; Martin, Jennifer M; Li, Wei; Swift, Andrew J; Upton, Paul D; Morrell, Nicholas W; Gräf, Stefan; Valverde, Diana

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

利用新一代测序技术和果蝇肾脏模型,探讨NUP93变异体在激素抵抗性肾病综合征中的相关性

Bierzynska, Agnieszka; Bull, Katherine; Miellet, Sara; Dean, Philip; Neal, Chris; Colby, Elizabeth; McCarthy, Hugh J; Hegde, Shivaram; Sinha, Manish D; Bugarin Diz, Carmen; Stirrups, Kathleen; Megy, Karyn; Mapeta, Rutendo; Penkett, Chris; Marsh, Sarah; Forrester, Natalie; Afzal, Maryam; Stark, Hannah; BioResource, Nihr; Williams, Maggie; Welsh, Gavin I; Koziell, Ania B; Hartley, Paul S; Saleem, Moin A

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

Whole-genome sequencing of patients with rare diseases in a national health system

国家卫生系统中罕见病患者的全基因组测序

Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V V Deevi, Timothy J Aitman, David L Bennett, 

Whole-genome sequencing of patients with rare diseases in a national health system

在国家卫生系统中对罕见病患者进行全基因组测序

Ernest Turro ,William J Astle,Karyn Megy,Stefan Gräf ,Daniel Greene,Olga Shamardina,Hana Lango Allen,Alba Sanchis-Juan,Mattia Frontini ,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver S Burren,Kate Downes,Matthias Haimel ,Salih Tuna,Sri V V Deevi,Timothy J Aitman,David L Bennett,Paul Calleja,Keren Carss,Mark J Caulfield,Patrick F Chinnery ,Peter H Dixon,Daniel P Gale,Roger James,Ania Koziell,Michael A Laffan,Adam P Levine,Eamonn R Maher ,Hugh S Markus,Joannella Morales,Nicholas W Morrell,Andrew D Mumford,Elizabeth Ormondroyd,Stuart Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts ,Noemi B A Roy ,Moin A Saleem,Kenneth G C Smith,Hannah Stark,Rhea Y Y Tan,Andreas C Themistocleous,Adrian J Thrasher,Hugh Watkins ,Andrew R Webster,Martin R Wilkins,Catherine Williamson,James Whitworth ,Sean Humphray,David R Bentley  ; NIHR BioResource for the 00,000 Genomes Project; Nathalie Kingston,Neil Walker,John R Bradley ,Sofie Ashford,Christopher J Penkett,Kathleen Freson,Kathleen E Stirrups,F Lucy Raymond,Willem H Ouwehand

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

新一代测序技术在MYH9-RD诊断中的应用:预测致病变异

Bury, Loredana; Megy, Karyn; Stephens, Jonathan C; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K; Bonduel, Mariana; Butta, Nora V; Collins, Peter; Curry, Nicola; Deevi, Sri V V; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M; Penkett, Christopher; Perry, David J; Stirrups, Kathleen E; Turro, Ernest; Westbury, Sarah K; Wu, John; BioResource, Nihr; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Gresele, Paolo; Simeoni, Ilenia

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

经筛选的出血、血栓和血小板疾病致病基因:来自国际血栓与止血学会(ISTH)科学科学委员会(SSC)的通报

Megy, Karyn; Downes, Kate; Simeoni, Ilenia; Bury, Loredana; Morales, Joannella; Mapeta, Rutendo; Bellissimo, Daniel B; Bray, Paul F; Goodeve, Anne C; Gresele, Paolo; Lambert, Michele; Reitsma, Pieter; Ouwehand, Willem H; Freson, Kathleen

The Human Coronaviruses

人类冠状病毒

Downes, Kate; Megy, Karyn; Duarte, Daniel; Vries, Minka; Gebhart, Johanna; Hofer, Stefanie; Shamardina, Olga; Deevi, Sri V V; Stephens, Jonathan; Mapeta, Rutendo; Tuna, Salih; Al Hasso, Namir; Besser, Martin W; Cooper, Nichola; Daugherty, Louise; Gleadall, Nick; Greene, Daniel; Haimel, Matthias; Martin, Howard; Papadia, Sofia; Revel-Vilk, Shoshana; Sivapalaratnam, Suthesh; Symington, Emily; Thomas, Will; Thys, Chantal; Tolios, Alexander; Penkett, Christopher J; Ouwehand, Willem H; Abbs, Stephen; Laffan, Michael A; Turro, Ernest; Simeoni, Ilenia; Mumford, Andrew D; Henskens, Yvonne M C; Pabinger, Ingrid; Gomez, Keith; Freson, Kathleen; Schildgen, Oliver

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

成人多原发肿瘤系列的综合癌症易感基因检测显示存在多种有害变异和非典型肿瘤表型

Whitworth, James; Smith, Philip S; Martin, Jose-Ezequiel; West, Hannah; Luchetti, Andrea; Rodger, Faye; Clark, Graeme; Carss, Keren; Stephens, Jonathan; Stirrups, Kathleen; Penkett, Chris; Mapeta, Rutendo; Ashford, Sofie; Megy, Karyn; Shakeel, Hassan; Ahmed, Munaza; Adlard, Julian; Barwell, Julian; Brewer, Carole; Casey, Ruth T; Armstrong, Ruth; Cole, Trevor; Evans, Dafydd Gareth; Fostira, Florentia; Greenhalgh, Lynn; Hanson, Helen; Henderson, Alex; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Kwong, Ava; Lalloo, Fiona; Ong, Kai Ren; Paterson, Joan; Park, Soo-Mi; Chen-Shtoyerman, Rakefet; Searle, Claire; Side, Lucy; Skytte, Anne-Bine; Snape, Katie; Woodward, Emma R; Tischkowitz, Marc D; Maher, Eamonn R