학술논문
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'학술논문'
에서 검색결과 103건 | 목록
1~20
Academic Journal
Elhassan E. A. E.; Collins K. E.; Heneghan S.; Gilbert E.; Yang H.; Senum S. R.; Schauer R. S.; Elbarougy D. E.; Madden S. F.; Murray S. L.; Sadeghi-Alavijeh O.; Carmichael J.; Gale D.; Osman S. M.; Kennedy C.; Griffin M. D.; Casserly L.; Moloney B.; O'Hara P.; Mallawaarachchi A.; Ciurli F.; Wood S. M.; Witkowska K.; Williams E.; Welland M. J.; Walsh E.; Tucci A.; Thompson S. R.; Thomas E. R. A.; Tanguy M.; Stuckey A.; Sosinsky A.; Smith S. C.; Sieghart A.; Siddiq A.; Scott R. H.; Sawant K.; Savage K.; Rogers T.; Rendon A.; Rahim T.; Pullinger J.; Pereira M. B.; Perez-Gil D.; Patch C.; Odhams C. A.; O'Donovan P.; Need A. C.; Murugaesu N.; Mueller M.; Moutsianas L.; Maleady-Crowe F.; Lopez J. F.; Leong I. U. S.; Leigh S. E. A.; Lahnstein L.; Kousathanas A.; Kayikci M.; Kasperaviciute D.; Jones L. J.; Jackson R.; Hubbard T. J. P.; Henderson S.; Hamblin A.; Giess A.; Fowler T.; Chan G. C.; Caulfield M. J.; Brittain H.; Boustred C. R.; Boardman-Pretty F.; Bleda M.; Arumugam P.; Ambrose J. C.; Graziano C.; Wolff C. A.; Schonauer R.; La Manna G.; Durand A.; Limou S.; Halbritter J.; Capelli I.; McCann E.; Harris P. C.; Cavalleri G. L.; Benson K. A.; Conlon P. J.
J Nephrol
Academic Journal
Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R.; Burley, Kate; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O’Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; Turnbull, Clare; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, Damian
Nature: International weekly journal of science. :1-9
Academic Journal
Keshavan A; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Wiltshire K; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Wee R; King's College Hospital NHS Foundation Trust, London, UK.; Francis Crick Institute, London, UK.; Belio IG; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Tucker K; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Hart M; Neuroimmunology & CSF Laboratory, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust (UCLH) Queen Square London, London, UK.; Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UK.; Lunn MP; Neuroimmunology & CSF Laboratory, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust (UCLH) Queen Square London, London, UK.; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; David MCB; UK Dementia Research Institute Centre for Care Research and Technology, London, UK.; Department of Brain Sciences, Imperial College London, London, UK.; Rizzo L; UK Dementia Research Institute Centre for Care Research and Technology, London, UK.; Department of Brain Sciences, Imperial College London, London, UK.; Sadeghi-Alavijeh O; UCL Department of Renal Medicine, University College London, London, UK.; Wilson P; UCL Department of Renal Medicine, University College London, London, UK.; Gale DP; UCL Department of Renal Medicine, University College London, London, UK.; Heslegrave AJ; UK Dementia Research Institute at UCL, University College London, London, UK.; Zetterberg H; UK Dementia Research Institute at UCL, University College London, London, UK.; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Hong Kong Center for Neurodegenerative Diseases, Hong Kong Special Administrative Region, China.; Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Centre for Brain Research, Indian Institute of Science, Bengaluru, India.; Fox NC; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Malhotra P; UK Dementia Research Institute Centre for Care Research and Technology, London, UK.; Department of Brain Sciences, Imperial College London, London, UK.; Schott JM; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, University College London, London, UK.
Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE
Academic Journal
Gale DP; Department of Renal Medicine, University College London, London, United Kingdom.; Chan MMY; MRC Laboratory of Medical Sciences, Imperial College London, London, United Kingdom.; Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, United Kingdom.
Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE; In Process
Academic Journal
Sadeghi-Alavijeh O; UCL Centre for Kidney and Bladder Health, University College London, London, United Kingdom.; Chan MMY; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, United Kingdom.; Stanescu H; UCL Centre for Kidney and Bladder Health, University College London, London, United Kingdom.; Gale DP; UCL Centre for Kidney and Bladder Health, University College London, London, United Kingdom.; Bockenhauer D; UCL Centre for Kidney and Bladder Health, University College London, London, United Kingdom.; Department of Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KU Leuven, Leuven, Belgium.
Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE
Academic Journal
van den Berg NI; The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.; Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow Road, Manchester, M20 4BX, UK.; Cancer Research UK Scotland Institute, University of Glasgow, Garscube Estate, Switchback Road, Bearsden, Glasgow G61 1BD, UK.; School of Cancer Sciences, University of Glasgow, Wolfson Wohl Cancer Research Centre, Bearsden, Glasgow, G61 1BD, UK.; Elphick M; The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.; Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow Road, Manchester, M20 4BX, UK.; Department of Bioengineering, Imperial College London, South Kensington Campus, London SW7 2AZ, UK.; The Institute of Cancer Research, 123 Old Brompton Road, London SW7 3RP, UK.; Mulder K; The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.; Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow Road, Manchester, M20 4BX, UK.; Bouricha O; The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.; Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow Road, Manchester, M20 4BX, UK.; Sadeghi-Alavijeh O; The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.; Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, London, United Kingdom.; Fu X; Cancer Research UK Scotland Institute, University of Glasgow, Garscube Estate, Switchback Road, Bearsden, Glasgow G61 1BD, UK.; School of Cancer Sciences, University of Glasgow, Wolfson Wohl Cancer Research Centre, Bearsden, Glasgow, G61 1BD, UK.; Turajlic S; Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow Road, Manchester, M20 4BX, UK.; The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.; The Christie NHS Foundation Trust, Wilmslow Road, Manchester M20 4BX, UK.
Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE
Academic Journal
Siew, K; Patel, V; Zimmermann, J; Vaughan, M; Cheshire, C; Kubik, A; Finch, R; Li, Z; Altinok, S; De Silvera, W; Rodriques, S; Blaber, E; Schisler, J; Galazka, J; Masafumi, M; Beheshti, A; Walsh, S; Lean, M; Taylor, R; Sattar, N; Mcintosh, A; Leslie, W; McCombie, L; Brosnahan, N; Thom, G; Barnes, A; Irvine, K; Cook, S; Hatem, S; Scully, S; Evans, HT; Farr, I; Orton, C; Ford, DV; Sheikh, A; Quint, JK; Ferenbach, D; Allen, L; Mortimer, G; Fareed, R; Williams, C; Bain, S; Dayan, C; Fraser, D; Hagopian, W; Oram, R; Gillespie, K; Sadeghi-Alavijeh, O; Chan, M; Moochhala, S; Howles, S; Gale, D; Böckenhauer, D; Jennings, R; Baker, SM; Zarrineh, P; Al-Banaki, A; Mullan, A; Goncalves, MA; Hanley, N; Watson, C; Apostolidou, S; Menon, U; Blundell, J; Shovlin, C; Bernabeu-Herrero, M; Jain, K; Aldred, M; Bielowka, A; Mackay, I; Guerrero, PC; Marciniak, S; Noseda, M; Patel, D; Ho, A; Orton, R; Tayler, R; Asamaphan, P; Herder, V; Davis, C; Tong, L; Smollett, K; Pollock, L; Evans, C; McMenamin, J; Roy, K; Marsh, K; Divala, T; Holden, M; Lockhart, M; Shepherd, S; Jackson, C; Gunson, R; MacLean, A; Henderson, P; Chand, M; Levin, M; Palmarini, M; Robertson, D; da Silva Filipe, A; Willett, B; Breuer, J; Semple, M; Turner, D; Baillie, K; Thomson, E; Horne, E; Hulme, W; Keogh, R; Palmer, T; Williamson, E; Parker, E; Walker, V; Goldacre, B; Hernán, M; Sterne, J; Schofield, J; Abrams, S; Alhamdi, Y; Bartlett, K; Hall, S; Wang, G; Casewell, N; Toh, C-H; Dashtban, A; Mizani, M; Pasea, L; Denaxas, S; Corbett, R; Mamza, J; Gao, H; Morris, T; Hemingway, H; Banerjee, A; Raisi-Estabragh, Z; Ardissino, M; Bard, A; Szabo, L; Salih, A; McCracken, C; Ruiz, E; Altman, A; Antoniades, C; Neubauer, S; Lekadir, K; Petersen, S; Lees, J; Crowther, J; Hanlon, P; Butterly, E; Wild, S; Mair, F; Guthrie, B; Gillies, K; Dias, S; Welton, N; McAllister, D; Frost, F; Nazareth, D; Wat, D; Walshaw, M; Lip, G; Orešković, T; Bennett, D; Lacey, B; Lewington, S; Massa, S; Bath, P; Wardlaw, J; Mbizvo, G; Schnier, C; Simpson, C; Chin, R; Duncan, S; Wood, GK; Tharmaratnam, K; Sargent, B; Ahmad, Z; Pendered, S; Rogers, H; van Wamelen, D; Dunai, C; Martin, N; Menon, DK; Taylor, JP; David, A; Aggleton, JP; Carson, A; Harrison, N; Jackson, T; Nicholson, T; Breen, G; Hampshire, A; Michael, BD; Paddick, SM; Leek, C
QJM: An International Journal of Medicine.
Academic Journal
Academic Journal
Sadeghi-Alavijeh O; Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, London, United Kingdom.; Chan MMY; Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, London, United Kingdom; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, United Kingdom.; Tzoumkas K; Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, London, United Kingdom.; Doctor GT; Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, London, United Kingdom.; Gale DP; Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, London, United Kingdom. Electronic address: d.gale@ucl.ac.uk.
Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE
Academic Journal
Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Faber S; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.; Roskothen-Shevchuk AJC; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.; Sendino Garví E; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.; Peters EDJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Nguyen TQ; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Broekhuizen R; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Brummelhuis WJ; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Rookmaaker M; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.; van der Veen SW; Department of Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.; Elferink MG; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Karras A; Department of Nephrology, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Européen Georges Pompidou, Université de Paris, Paris, France.; Raymond L; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Mousseaux C; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Sadeghi-Alavijeh O; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK.; Sayer JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.; Olinger E; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Neatu R; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Klämbt V; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA.; Stokman MF; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.; Knoers NVAM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands.; Gale DP; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK.; Boldt K; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.; Core Facility for Medical Proteomics, University of Tübingen, Tübingen, Germany.; Ueffing M; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.; Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.; Roepman R; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.; Hildebrandt F; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.; Mesnard L; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands, a.vanEerde@umcutrecht.nl.
Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE
Academic Journal
Melanie MY Chan; Omid Sadeghi-Alavijeh; Filipa M Lopes; Alina C Hilger; Horia C Stanescu; Catalin D Voinescu; Glenda M Beaman; William G Newman; Marcin Zaniew; Stefanie Weber; Yee Mang Ho; John O Connolly; Dan Wood; Carlo Maj; Alexander Stuckey; Athanasios Kousathanas; Genomics England Research Consortium; Robert Kleta; Adrian S Woolf; Detlef Bockenhauer; Adam P Levine; Daniel P Gale
eLife, Vol 11 (2022)
Academic Journal
James E. D. Thaventhiran; Hana Lango Allen; Oliver S. Burren; William Rae; Daniel Greene; Emily Staples; Zinan Zhang; James H. R. Farmery; Ilenia Simeoni; Elizabeth Rivers; Jesmeen Maimaris; Christopher J. Penkett; Jonathan Stephens; Sri V. V. Deevi; Alba Sanchis-Juan; Nicholas S. Gleadall; Moira J. Thomas; Ravishankar B. Sargur; Pavels Gordins; Helen E. Baxendale; Matthew Brown; Paul Tuijnenburg; Austen Worth; Steven Hanson; Rachel J. Linger; Matthew S. Buckland; Paula J. Rayner-Matthews; Kimberly C. Gilmour; Crina Samarghitean; Suranjith L. Seneviratne; David M. Sansom; Andy G. Lynch; Karyn Megy; Eva Ellinghaus; David Ellinghaus; Silje F. Jorgensen; Tom H. Karlsen; Kathleen E. Stirrups; Antony J. Cutler; Dinakantha S. Kumararatne; Anita Chandra; J. David M. Edgar; Archana Herwadkar; Nichola Cooper; Sofia Grigoriadou; Aarnoud P. Huissoon; Sarah Goddard; Stephen Jolles; Catharina Schuetz; Felix Boschann; Stephen Abbs; Zoe Adhya; Julian Adlard; Maryam Afzal; Irshad Ahmed; Munaza Ahmed; Saeed Ahmed; Timothy J. Aitman; Hana Alachkar; Jayanthi Alamelu; Raza Alikhan; Carl E. Allen; Louise Allen; David J. Allsup; Arif Alvi; Gautam Ambegaonkar; Ariharan Anantharachagan; Philip Ancliff; Julie Anderson; Richard Antrobus; Ruth Armstrong; Gavin Arno; Gururaj Arumugakani; Rita Arya; Sofie Ashford; William J. Astle; Anthony Attwood; Steve Austin; Yesim Aydinok; Waqar Ayub; Christian Babbs; Chiara Bacchelli; Trevor Baglin; Tamam Bakchoul; Tadbir K. Bariana; Jonathan Barratt; Julian Barwell; John Baski; Rachel W. Bates; Joana Batista; Gareth Baynam; David L. Bennett; Claire Bethune; Neha Bhatnagar; Shahnaz Bibi; Agnieszka Bierzynska; Tina Biss; Maria A. K. Bitner-Glindzicz; Marta Bleda; Iulia Blesneac; Barbara Boardman; Preetham Boddana; Harm J. Bogaard; Claire Booth; Sara Boyce; John R. Bradley; Angela Brady; Gerome Breen; Paul Brennan; Carole Brewer; Annette Briley; Richard Brown; Michael J. Browning; Mary Brownlie; Christine J. Bryson; Rachel J. Buchan; Jackie Buck; Teofila Bueser; Carmen Bugarin Diz; Siobhan O. Burns; Paul Calleja; Jenny Carmichael; Gerald Carr-White; Keren J. Carss; Ruth Casey; Elizabeth Chalmers; Jenny Chambers; John Chambers; Melanie M. Y. Chan; Melissa V. Chan; Floria Cheng; Ivan K. Chinn; Patrick F. Chinnery; Manali Chitre; Sam Chong; Martin T. Christian; Colin Church; Emma M. Clement; Naomi Clements Brod; Hayley Clifford; Virginia E. Clowes; Gerry Coghlan; Elizabeth Colby; Trevor R. P. Cole; Janine H. Collins; Peter W. Collins; Robin Condliffe; H. Terence. Cook; Stuart Cook; Victoria Cookson; Paul A. Corris; Amanda Creaser-Myers; Abigail Crisp-Hihn; Nicola S. Curry; Rosa Da Costa; Cesare Danesino; Matthew J. Daniels; Damaris Darby; Louise C. Daugherty; E. G. Davies; Sophie Davies; John Davis; Godelieve J. de Bree; Sarah Deacock; Patrick B. Deegan; John Dempster; Timothy Dent; Charu Deshpande; Lisa A. Devlin; Eleanor F. Dewhurst; Anand K. Dixit; Peter H. Dixon; Rainer Doffinger; Helen Dolling; Natalie Dormand; Kate Downes; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; Karen E. Edwards; William Egner; Melanie N. Ekani; Tariq El-Shanawany; Shuayb Elkhalifa; Tony Elston; Ingrid Emmerson; Wendy N. Erber; Marie Erwood; Maria C. Estiu; Dafydd Gareth Evans; Gillian Evans; Tamara Everington; Mélanie Eyries; Remi Favier; Helen V. Firth; Maggie M. Fitzpatrick; Debra Fletcher; Frances A. Flinter; James C. Fox; Amy J. Frary; Courtney E. French; Kathleen Freson; Mattia Frontini; Bruce Furie; Daniel P. Gale; Henning J. Gall; Alice Gardham; H. Bobby Gaspar; Michael Gattens; Neeti Ghali; Pavandeep K. Ghataorhe; Stefano Ghio; Hossein-Ardeschir Ghofrani; Rohit Ghurye; J. Simon R. Gibbs; Rodney D. Gilbert; Barbara Girerd; Joanna C. Girling; Paul Gissen; Kathleen M. Gorman; David Gosal; Stefan Graf; Luigi Grassi; Alan J. Greenhalgh; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip G. Griffiths; Sian Griffiths; Detelina Grozeva; Scott J. Hackett; Robert D. M. Hadden; Charaka Hadinnapola; Rosie Hague; William M. Hague; Matthias Haimel; Matthew Hall; Csaba Halmagyi; Tracey Hammerton; Helen L. Hanson; Kirsty Harkness; Andrew R. Harper; Lorraine Harper; Claire Harris; Claire Harrison; Daniel Hart; Ahamad Hassan; Grant Hayman; Johan W. M. Heemskerk; Shivaram Hegde; Alex Henderson; Robert H. Henderson; Anke Hensiek; Yvonne M. C. Henskens; Joshua Hodgson; Jonathan Hoffman; Simon Holden; Muriel Holder; Rita Horvath; Henry Houlden; Arjan C. Houweling; Luke S. Howard; Fengyuan Hu; Gavin Hudson; Sean Hughes; Stephen Hughes; Anna E. Huis in ‘t Veld; Marc Humbert; Matthew E. Hurles; Jane A. Hurst; Val Irvine; Louise Izatt; Roger James; Praveen Jeevaratnam; Mark Johnson; Sally A. Johnson; Jennifer D. Jolley; Bryony Jones; Julie Jones; Dragana Josifova; Neringa Jurkute; Yousuf M. Karim; Mahantesh A. Karoshi; Mary A. Kasanicki; Hanadi Kazkaz; Rashid Kazmi; David Keeling; Peter Kelleher; Anne M. Kelly; Carly Kempster; Fiona Kennedy; Sorena Kiani; David G. Kiely; Nathalie Kingston; Sally Kinsey; Nigel Klein; Robert Klima; Ellen Knox; Myrto A. Kostadima; Gabor Kovacs; Ania B. Koziell; Roman Kreuzhuber; Deepa Krishnakumar; Taco W. Kuijpers; Ajith Kumar; Manju A. Kurian; James Laffan; Michael A. Laffan; Fiona Lalloo; Michele P. Lambert; Sarah H. A. Lawman; Allan Lawrie; D. Mark Layton; Sara E. Lear; Melissa M. Lees; Claire Lentaigne; Adam P. Levine; Andrew J. P. Lewington; Wei Li; Ri Liesner; Bin Liu; Hilary Longhurst; Lorena E. Lorenzo; Eleni Louka; Silvia Lucato Hadeler; Paul A. Lyons; Malcolm Macdougall; Rajiv D. Machado; Robert V. MacKenzie Ross; Lucy H. Mackillop; Robert MacLaren; Bella Madan; Laura Magee; Mohamed Mahdi-Rogers; Eamonn R. Maher; Mike Makris; Sarah Mangles; Ania Manson; Adnan Manzur; Rutendo Mapeta; Kevin J. Marchbank; Patrick B. Mark; Stephen Marks; Hugh S. Markus; Hanns-Ulrich Marschall; Andrew Marshall; Jennifer M. Martin; Larahmie Masati; Mary Mathias; Vera Matser; Emma L. Matthews; Anna Maw; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Elizabeth M. McDermott; Simon J. McGowan; Coleen McJannet; Harriet McKinney; Stuart Meacham; Adam J. Mead; Ignacio Medina Castello; Sharon Meehan; Sarju Mehta; Catherine L. Mercer; Michel Michaelides; Anna C. Michell; David Milford; Carolyn M. Millar; Hazel Millar; Anoop Mistry; Floor Moenen; Shahin Moledina; David Montani; Anthony T. Moore; Jason Moore; Nicholas W. Morrell; Valerie Morrisson; Monika Mozere; Keith W. Muir; Andrew D. Mumford; Sai H. K. Murng; Iman Nasir; Sergey Nejentsev; Michael Newnham; Joanne Ng; Adeline Ngoh; Sadia Noorani; Muna Noori; Paquita Nurden; Jennifer M. O’Sullivan; Samya Obaji; Steven Okoli; Eric Oksenhendler; Andrea Olschewski; Horst Olschewski; Albert C. M. Ong; Kai Ren Ong; Helen Oram; Elizabeth Ormondroyd; Shokri Othman; Willem H. Ouwehand; Antonis Pantazis; Sofia Papadia; Apostolos Papandreou; Soo-Mi Park; Alasdair P. J. Parker; David Parry; Georgina Parsons; K. John. Pasi; Joan Paterson; Jeanette H. Payne; Andrew J. Peacock; Kathelijne Peerlinck; Joanna Pepke-Zaba; David Perry; Romina Petersen; Bartlomiej Piechowski-Jozwiak; Fernando Pinto; Gary J. Polwarth; Mark J. Ponsford; Sanjay Prasad; Inga Prokopenko; Beth Psaila; Angela Pyle; Waseem Qasim; Ellen Quinn; Isabella Quinti; Sanjay Raina; Lavanya Ranganathan; Julia Rankin; Stuart Rankin; Anupama Rao; F. Lucy Raymond; Karola Rehnstrom; Evan Reid; Mary M. Reilly; Tara Renton; Shoshana Revel-Vilk; Christopher J. Rhodes; Andrew S. C. Rice; Emma E. Richards; Mike Richards; Sylvia Richardson; Alex Richter; Leema Robert; Irene Roberts; Matthew T. Rondina; Elisabeth Rosser; Peter Rothwell; Catherine Roughley; Noemi B. Roy; Kevin Rue-Albrecht; Omid Sadeghi-Alavijeh; Moin A. Saleem; Richard M. Salmon; Nilesh J. Samani; Jennifer G. Sambrook; Richard Sandford; Saikat Santra; Simon C. Satchell; Sinisa Savic; Laura Scelsi; Gwen Schotte; Sol Schulman; Harald Schulze; Richard Scott; Marie Scully; Claire Searle; Werner Seeger; W. A. Carrock Sewell; Denis Seyres; Fiona Shackley; Olga Shamardina; Susan E. Shapiro; Pankaj Sharma; Hassan A. Shehata; Deborah Shipley; Rakefet Shtoyerman; Keith Sibson; Lucy Side; Michael Simpson; Matthew C. Sims; Manish D. Sinha; Suthesh Sivapalaratnam; Anne-Bine Skytte; Kenneth G. C. Smith; Katie Snape; Linda Sneddon; Aman Sohal; Florent Soubrier; Laura Southgate; Mark Southwood; Miranda Splitt; Simon Staines; Hannah Stark; Hans Stauss; Cathal L. Steele; Daniel Stein; Penelope E. Stein; Sophie Stock; Matthew J. Stubbs; Jay Suntharalingam; Emilia M. Swietlik; Emily Symington; R. Campbell Tait; Kate Talks; Rhea Y. Y. Tan; Gordon B. Taylor; Jecko Thachil; Andreas C. Themistocleous; David C. Thomas; Ellen Thomas; Patrick Thomas; Dorothy A. Thompson; Kate Thomson; Adrian J. Thrasher; Chantal Thys; Tobias Tilly; Marc Tischkowitz; Catherine Titterton; John A. Todd; Cheng-Hock Toh; Anton T. J. Tool; Mark R. Toshner; Matthew Traylor; Carmen M. Treacy; Paul Treadaway; Richard C. Trembath; Sarah Trippier; Salih Tuna; Wojciech Turek; Ernest Turro; Paul D. Upton; Rafal Urniaz; Tom Vale; Chris Van Geet; Natalie van Zuydam; Anthony M. Vandersteen; Marta Vazquez-Lopez; Marijcke W. M. Veltman; Julie Vogt; Julie von Ziegenweidt; Anton Vonk Noordegraaf; Ajay Vora; Minka J. A. Vries; Emma L. Wakeling; Neil Walker; Suellen M. Walker; Roddy Walsh; Ivy Wanjiku; James S. Ware; Timothy Q. Warner; Evangeline Wassmer; Hugh Watkins; Henry G. Watson; Christopher Watt; Dean Waugh; Nick Webb; Andrew R. Webster; Wei Wei; Angela Welch; Steven B. Welch; David Werring; Julie Wessels; Sarah K. Westbury; John-Paul W. Westwood; John Wharton; Deborah Whitehorn; James Whitworth; Martin R. Wilkins; Lisa Willcocks; David J. Williams; Catherine Williamson; Edwin K. S. Wong; Nicholas Wood; Yvette Wood; Christopher Geoffrey Woods; Emma R. Woodward; Sarita Workman; Stephen J. Wort; Katherine Yates; Nigel Yeatman; Patrick F. K. Yong; Timothy Young; Ping Yu; Patrick Yu-Wai-Man; Eliska Zlamalova
Nature
Thaventhiran, J E D, Lango Allen, H, Burren,O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Abbs, S, Adhya, Z, Adlard, J, Afzal, M, Ahmed, I, Ahmed, M, Ahmed, S, Aitman, T J, Alachkar, H, Alamelu, J, Alikhan, R, Allen, C E, Allen, L, Allsup, D J, Alvi, A, Ambegaonkar, G, Anantharachagan, A, Ancliff, P, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Arya, R, Ashford, S, Astle, W J, Attwood, A, Austin, S, Aydinok, Y, Ayub, W, Babbs, C, Bacchelli, C, Baglin, T, Bakchoul, T, Bariana, T K, Barratt, J, Barwell, J, Baski, J, Bates, R W, Batista, J, Baxendale, H E, Baynam, G, Bennett, D L, Bethune, C, Bhatnagar, N, Bibi, S, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Bleda, M, Blesneac, I, Boardman, B, Boddana, P, Bogaard, H J, Booth, C, Boyce, S, Bradley, J R, Brady, A, Breen, G, Brennan, P, Brewer, C, Briley, A, Brown, M, Brown, R, Browning, M J, Brownlie, M, Bryson, C J, Buchan, R J, Buck, J, Buckland, M S, Bueser, T, Diz, C B, Burns, S O , Burren, O S, Calleja, P, Carmichael, J, Carr-White, G, Carss, K J, Casey, R, Chalmers, E, Chambers, J, Chambers, J, Chan, M M Y, Chan, M V, Chandra, A, Cheng, F, Chinn, I K, Chinnery, P F, Chitre, M, Chong, S, Christian, M T, Church, C, Clement, E M, Brod, N C, Clifford, H, Clowes, V E, Coghlan, G, Colby, E, Cole, T R P, Collins, J H, Collins, P W, Condliffe, R, Cook, H T, Cook, S, Cookson, V, Cooper, N, Corris, P A, Creaser-Myers, A, Crisp-Hihn, A, Curry, N S, Cutler, A J, Da Costa, R, Danesino, C, Daniels, M J, Darby, D, Daugherty, L C, Davies, E G, Davies, S, Davis, J, de Bree, G J, Deacock, S, Deegan, P B, Deevi, S V V, Dempster, J, Dent, T, Deshpande, C, Devlin, L A, Dewhurst, E F, Dixit, A K, Dixon, P H, Doffinger, R, Dolling, H, Dormand, N, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K E, Egner, W, Ekani, M N, El-Shanawany, T, Elkhalifa, S, Elston, T, Emmerson, I, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Farmery, J H R, Favier, R, Firth, H V, Fitzpatrick, M M, Fletcher, D, Flinter, F A, Fox, J C, Frary, A J, French, C E, Freson, K, Frontini, M, Furie, B, Gale, D P, Gall, H J, Gardham, A, Gaspar, H B, Gattens, M, Ghali, N, Ghataorhe, P K, Ghio, S, Ghofrani, H A, Ghurye, R, Gibbs, J S R, Gilbert, R D, Gilmour, K C, Girerd, B, Girling, J C, Gissen, P, Gleadall, N S, Goddard, S, Gordins, P, Gorman, K M, Gosal, D, Graf, S, Grassi, L, Greene, D, Greenhalgh, A J, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P G, Griffiths, S, Grigoriadou, S, Grozeva, D, Hackett, S J, Hadden, R D M, Hadinnapola, C, Hague, R, Hague, W M, Haimel, M, Hall, M, Halmagyi, C, Hammerton, T, Hanson, H L, Harkness, K, Harper, A R, Harper, L, Harris, C, Harrison, C, Hart, D, Hassan, A, Hayman, G, Heemskerk, J W M, Hegde, S, Henderson, A, Henderson, R H, Hensiek, A, Henskens, Y M C, Herwadkar, A, Hodgson, J, Hoffman, J, Holden, S, Holder, M, Horvath, R, Houlden, H, Houweling, A C, Howard, L S, Hu, F, Hudson, G, Hughes, S, Hughes, S, Huis in ‘t Veld, A E, Huissoon, A P, Humbert, M, Hurles, M E, Hurst, J A, Irvine, V, Izatt, L, James, R, Jeevaratnam, P, Johnson, M, Johnson, S A, Jolles, S, Jolley, J D, Jones, B, Jones, J, Josifova, D, Jurkute, N, Karim, Y M, Karoshi, M A, Kasanicki, M A, Kazkaz, H, Kazmi, R, Keeling, D, Kelleher, P, Kelly, A M, Kempster, C, Kennedy, F, Kiani, S, Kiely, D G, Kingston, N, Kinsey, S, Klein, N, Klima, R, Knox, E, Kostadima, M A, Kovacs, G, Koziell, A B, Kreuzhuber, R, Krishnakumar, D, Kuijpers, T W, Kumar, A, Kumararatne, D S, Kurian, M A, Laffan, J, Laffan, M A, Lalloo, F, Lambert, M P, Lango Allen, H, Lawman, S H A, Lawrie, A, Layton, D M, Lear, S E, Lees, M M, Lentaigne, C, Levine, A P, Lewington, A J P, Li, W, Liesner, R, Linger, R J, Liu, B, Longhurst, H, Lorenzo, L E, Louka, E, Hadeler, S L, Lyons, P A, Macdougall, M, Machado, R D, MacKenzie Ross, R V, Mackillop, L H, MacLaren, R, Madan, B, Magee, L, Mahdi-Rogers, M, Maher, E R, Maimaris, J, Makris, M, Mangles, S, Manson, A, Manzur, A, Mapeta, R, Marchbank, K J, Mark, P B, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J M, Masati, L, Mathias, M, Matser, V, Matthews, E L, Maw, A, Maxwell, H, McAlinden, P, McCarthy, M I, McDermott, E M, McGowan, S J, McJannet, C, McKinney, H, Meacham, S, Mead, A J, Castello, I M, Meehan, S, Megy, K, Mehta, S, Mercer, C L, Michaelides, M, Michell, A C, Milford, D, Millar, C M, Millar, H, Mistry, A, Moenen, F, Moledina, S, Montani, D, Moore, A T, Moore, J, Morrell, N W, Morrisson, V, Mozere, M, Muir, K W, Mumford, A D, Murng, S H K, Nasir, I, Nejentsev, S, Newnham, M, Ng, J, Ngoh, A, Noorani, S, Noori, M, Nurden, P, O ’Sullivan, J M, Obaji, S, Okoli, S, Oksenhendler, E, Olschewski, A, Olschewski, H, Ong, A C M, Ong, K R, Oram, H, Ormondroyd, E, Othman, S, Ouwehand, W H, Pantazis, A, Papadia, S, Papandreou, A, Park, S M, Parker, A P J, Parry, D, Parsons, G, Pasi, K J, Paterson, J, Payne, J H, Peacock, A J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Perry, D, Petersen, R, Piechowski-Jozwiak, B, Pinto, F, Polwarth, G J, Ponsford, M J, Prasad, S, Prokopenko, I, Psaila, B, Pyle, A, Qasim, W, Quinn, E, Quinti, I, Raina, S, Ranganathan, L, Rankin, J, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rehnstrom, K, Reid, E, Reilly, M M, Renton, T, Revel-Vilk, S, Rhodes, C J, Rice, A S C, Richards, E E, Richards, M, Richardson, S, Richter, A, Robert, L, Roberts, I, Rondina, M T, Rosser, E, Rothwell, P, Roughley, C, Roy, N B, Rue-Albrecht, K, Sadeghi -Alavijeh , O , Saleem, M A, Salmon, R M, Samani, N J, Samarghitean, C, Sambrook, J G, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R B, Satchell, S C, Savic, S, Scelsi, L, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Searle, C, Seeger, W, Seneviratne, S L, Sewell, W A C, Seyres, D, Shackley, F, Shamardina, O , Shapiro, S E, Sharma, P, Shehata, H A, Shipley, D, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sims, M C, Sinha, M D, Sivapalaratnam, S, Skytte, A B, Smith, K G C, Snape, K, Sneddon, L, Sohal, A, Soubrier, F, Southgate, L, Southwood, M, Splitt, M, Staines, S, Staples, E, Stark, H, Stauss, H, Steele, C L, Stein, D, Stein, P E, Stephens, J, Stirrups, K E, Stock, S, Stubbs, M J, Suntharalingam, J, Swietlik, E M, Symington, E, Tait, R C, Talks, K, Tan, R Y Y, Taylor, G B, Thachil, J, Thaventhiran, J E D, Themistocleous, A C, Thomas, D C, Thomas, E, Thomas, M J, Thomas, P, Thompson, D A, Thomson, K, Thrasher, A J, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tool, A T J, Toshner, M R, Traylor, M, Treacy, C M, Treadaway, P, Trembath, R C, Trippier, S, Tuna, S, Turek, W, Turro, E, Upton, P D, Urniaz, R, Vale, T, Van Geet, C, van Zuydam, N, Vandersteen, A M, Vazquez-Lopez, M, Veltman, M W M, Vogt, J, von Ziegenweidt, J, Noordegraaf, A V, Vora, A, Vries, M J A, Wakeling, E L, Walker, N, Walker, S M, Walsh, R, Wanjiku, I, Ware, J S, Warner, T Q, Wassmer, E, Watkins, H, Watson, H G, Watt, C, Waugh, D, Webb, N, Webster, A R, Wei, W, Welch, A, Welch, S B, Werring, D, Wessels, J, Westbury, S K, Westwood, J P W, Wharton, J, Whitehorn, D, Whitworth, J, Wilkins, M R, Willcocks, L, Williams, D J, Williamson, C, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, E R, Workman, S, Wort, S J, Worth, A, Yates, K, Yeatman, N, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Lyons, P A, Hurles, M E, Savic, S, Burns, S O , Kuijpers, T W, Turro, E, Ouwehand, W H, Thrasher, A J, Smith, K G C & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort', Nature, vol. 583, no. 7814, pp. 90-95. https://doi.org/10.1038/s41586-020-2265-1
Primary Immunodeficiency Consortium for the NIHR Bioresource, Evans, D G & Daniels, M J 2020, 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort', Nature, vol. 583, no. 7814, pp. 90-95. https://doi.org/10.1038/s41586-020-2265-1, https://doi.org/10.1038/s41586-020-2265-1
Thaventhiran, J E D, Lango Allen, H, Burren,O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Johnson, M, Thomas, D C, Wei, W & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort', Nature, vol. 583, no. 7814, pp. 90-95. https://doi.org/10.1038/s41586-020-2265-1
Thaventhiran, J E D, Lango Allen, H, Burren,
Primary Immunodeficiency Consortium for the NIHR Bioresource, Evans, D G & Daniels, M J 2020, 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort', Nature, vol. 583, no. 7814, pp. 90-95. https://doi.org/10.1038/s41586-020-2265-1, https://doi.org/10.1038/s41586-020-2265-1
Thaventhiran, J E D, Lango Allen, H, Burren,
Academic Journal
Gibson, JT; Huang, M; Shenelli Croos Dabrera, M; Shukla, K; Rothe, H; Hilbert, P; Deltas, C; Storey, H; Lipska-Ziętkiewicz, BS; Chan, MMY; Sadeghi-Alavijeh, O; Gale, DP; Ambrose, JC; Arumugam, P; Baple, EL; Bleda, M; Boardman-Pretty, F; Boissiere, JM; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Craig, CEH; Daugherty, LC; de Burca, A; Devereau, A; Elgar, G; Foulger, RE; Fowler, T; Furió-Tarí, P; Giess, A; Hackett, JM; Halai, D; Hamblin, A; Henderson, S; Holman, JE; Hubbard, TJP; Ibáñez, K; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Lawson, K; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; Mason, J; McDonagh, EM; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; Odhams, CA; Orioli, A; Patch, C; Perez-Gil, D; Pereira, MB; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smedley, D; Smith, KR; Smith, SC; Sosinsky, A; Spooner, W; Stevens, HE; Stuckey, A; Sultana, R; Tanguy, M; Thomas, ERA; Thompson, SR; Tregidgo, C; Tucci, A; Walsh, E; Watters, SA; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M; Cerkauskaite, A; Savige, J
Sci Rep
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Scientific Reports
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Melanie MY Chan; Omid Sadeghi-Alavijeh; Filipa M Lopes; Alina C Hilger; Horia C Stanescu; Catalin D Voinescu; Glenda M Beaman; William G Newman; Marcin Zaniew; Stefanie Weber; John O Connolly; Dan Wood; Alexander Stuckey; Athanasios Kousathanas; Robert Kleta; Adrian S Woolf; Detlef Bockenhauer; Adam P Levine; Daniel P Gale
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Academic Journal
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; Stephen Abbs; Lara Abulhoul; Julian Adlard; Munaza Ahmed; Hana Alachkar; David J. Allsup; Jeff Almeida-King; Philip Ancliff; Richard Antrobus; Ruth Armstrong; Gavin Arno; Sofie Ashford; Anthony Attwood; Paul Aurora; Christian Babbs; Chiara Bacchelli; Tamam Bakchoul; Siddharth Banka; Tadbir Bariana; Julian Barwell; Joana Batista; Helen E. Baxendale; Phil L. Beales; Agnieszka Bierzynska; Tina Biss; Maria A. K. Bitner-Glindzicz; Graeme C. Black; Marta Bleda; Iulia Blesneac; Detlef Bockenhauer; Harm Bogaard; Christian J. Bourne; Sara Boyce; John R. Bradley; Eugene Bragin; Gerome Breen; Paul Brennan; Carole Brewer; Matthew Brown; Andrew C. Browning; Michael J. Browning; Rachel J. Buchan; Matthew S. Buckland; Teofila Bueser; Carmen Bugarin Diz; John Burn; Siobhan O. Burns; Nigel Burrows; Carolyn Campbell; Gerald Carr-White; Ruth Casey; Jenny Chambers; John Chambers; Melanie M. Y. Chan; Calvin Cheah; Floria Cheng; Manali Chitre; Martin T. Christian; Colin Church; Jill Clayton-Smith; Maureen Cleary; Naomi Clements Brod; Gerry Coghlan; Elizabeth Colby; Trevor R. P. Cole; Janine Collins; Peter W. Collins; Camilla Colombo; Cecilia J. Compton; Robin Condliffe; Stuart Cook; H. Terence Cook; Nichola Cooper; Paul A. Corris; Abigail Furnell; Fiona Cunningham; Nicola S. Curry; Antony J. Cutler; Matthew J. Daniels; Mehul Dattani; Louise C. Daugherty; John Davis; Anthony De Soyza; Timothy Dent; Charu Deshpande; Eleanor F. Dewhurst; Sofia Douzgou; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; J. David M. Edgar; Karen Edwards; William Egner; Melanie N. Ekani; Perry Elliott; Wendy N. Erber; Marie Erwood; Maria C. Estiu; Dafydd Gareth Evans; Gillian Evans; Tamara Everington; Mélanie Eyries; Hiva Fassihi; Remi Favier; Jack Findhammer; Debra Fletcher; Frances A. Flinter; R. Andres Floto; Tom Fowler; James Fox; Amy J. Frary; Courtney E. French; Kathleen Freson; Henning Gall; Vijeya Ganesan; Michael Gattens; Claire Geoghegan; Terence S. A. Gerighty; Ali G. Gharavi; Stefano Ghio; Hossein-Ardeschir Ghofrani; J. Simon R. Gibbs; Kate Gibson; Kimberly C. Gilmour; Barbara Girerd; Nicholas S. Gleadall; Sarah Goddard; David B. Goldstein; Keith Gomez; Pavels Gordins; David Gosal; Jodie Graham; Luigi Grassi; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip Griffiths; Sofia Grigoriadou; Russell J. Grocock; Detelina Grozeva; Mark Gurnell; Scott Hackett; Charaka Hadinnapola; William M. Hague; Rosie Hague; Matthew Hall; Helen L. Hanson; Eshika Haque; Kirsty Harkness; Andrew R. Harper; Claire L. Harris; Daniel Hart; Ahamad Hassan; Grant Hayman; Alex Henderson; Archana Herwadkar; Jonathan Hoffman; Simon Holden; Rita Horvath; Henry Houlden; Arjan C. Houweling; Luke S. Howard; Fengyuan Hu; Gavin Hudson; Joseph Hughes; Aarnoud P. Huissoon; Marc Humbert; Sarah Hunter; Matthew Hurles; Melita Irving; Louise Izatt; Sally A. Johnson; Stephen Jolles; Jennifer Jolley; Dragana Josifova; Neringa Jurkute; Tim Karten; Johannes Karten; Mary A. Kasanicki; Hanadi Kazkaz; Rashid Kazmi; Peter Kelleher; Anne M. Kelly; Wilf Kelsall; Carly Kempster; David G. Kiely; Nathalie Kingston; Robert Klima; Nils Koelling; Myrto Kostadima; Gabor Kovacs; Roman Kreuzhuber; Taco W. Kuijpers; Ajith Kumar; Dinakantha Kumararatne; Manju A. Kurian; Fiona Lalloo; Michele Lambert; Allan Lawrie; D. Mark Layton; Nick Lench; Claire Lentaigne; Tracy Lester; Rachel Linger; Hilary Longhurst; Lorena E. Lorenzo; Eleni Louka; Paul A. Lyons; Rajiv D. Machado; Robert V. MacKenzie Ross; Bella Madan; Jesmeen Maimaris; Samantha Malka; Sarah Mangles; Kevin J. Marchbank; Stephen Marks; Hanns-Ulrich Marschall; Andrew Marshall; Jennifer Martin; Mary Mathias; Emma Matthews; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Harriet McKinney; Aoife McMahon; Stuart Meacham; Adam J. Mead; Ignacio Medina Castello; Sarju G. Mehta; Michel Michaelides; Carolyn Millar; Shehla N. Mohammed; Shahin Moledina; David Montani; Anthony T. Moore; Monika Mozere; Keith W. Muir; Andrea H. Nemeth; William G. Newman; Michael Newnham; Sadia Noorani; Paquita Nurden; Jennifer O’Sullivan; Samya Obaji; Chris Odhams; Steven Okoli; Andrea Olschewski; Horst Olschewski; Kai Ren Ong; S. Helen Oram; Willem H. Ouwehand; Claire Palles; Sofia Papadia; Soo-Mi Park; David Parry; Smita Patel; Joan Paterson; Andrew Peacock; Simon H. Pearce; John Peden; Kathelijne Peerlinck; Christopher J. Penkett; Joanna Pepke-Zaba; Romina Petersen; Clarissa Pilkington; Kenneth E. S. Poole; Radhika Prathalingam; Bethan Psaila; Angela Pyle; Richard Quinton; Shamima Rahman; Anupama Rao; F. Lucy Raymond; Paula J. Rayner-Matthews; Christine Rees; Tara Renton; Christopher J. Rhodes; Andrew S. C. Rice; Alex Richter; Leema Robert; Anthony Rogers; Sarah J. Rose; Robert Ross-Russell; Catherine Roughley; Deborah M. Ruddy; Omid Sadeghi-Alavijeh; Nilesh Samani; Crina Samarghitean; Ravishankar B. Sargur; Robert N. Sarkany; Simon Satchell; Sinisa Savic; John A. Sayer; Genevieve Sayer; Laura Scelsi; Andrew M. Schaefer; Sol Schulman; Richard Scott; Marie Scully; Claire Searle; Werner Seeger; Arjune Sen; W. A. Carrock Sewell; Denis Seyres; Neil Shah; Susan E. Shapiro; Adam C. Shaw; Patrick J. Short; Keith Sibson; Lucy Side; Ilenia Simeoni; Michael A. Simpson; Matthew C. Sims; Suthesh Sivapalaratnam; Damian Smedley; Katherine R. Smith; Katie Snape; Nicole Soranzo; Florent Soubrier; Laura Southgate; Olivera Spasic-Boskovic; Simon Staines; Emily Staples; Charles Steward; Kathleen E. Stirrups; Alex Stuckey; Jay Suntharalingam; Emilia M. Swietlik; Petros Syrris; R. Campbell Tait; Kate Talks; Katie Tate; John M. Taylor; Jenny C. Taylor; James E. Thaventhiran; Ellen Thomas; David Thomas; Moira J. Thomas; Patrick Thomas; Kate Thomson; Glen Threadgold; Tobias Tilly; Marc Tischkowitz; Catherine Titterton; John A. Todd; Cheng-Hock Toh; Bas Tolhuis; Ian P. Tomlinson; Mark Toshner; Matthew Traylor; Carmen Treacy; Paul Treadaway; Richard Trembath; Wojciech Turek; Philip Twiss; Tom Vale; Chris Van Geet; Natalie van Zuydam; Maarten Vandekuilen; Anthony M. Vandersteen; Marta Vazquez-Lopez; Julie von Ziegenweidt; Anton Vonk Noordegraaf; Annette Wagner; Quinten Waisfisz; Suellen M. Walker; Neil Walker; Klaudia Walter; James S. Ware; Christopher Watt; Lucy Wedderburn; Wei Wei; Steven B. Welch; Julie Wessels; Sarah K. Westbury; John-Paul Westwood; John Wharton; Deborah Whitehorn; Andrew O. M. Wilkie; Brian T. Wilson; Edwin K. S. Wong; Nicholas Wood; Yvette Wood; Christopher Geoffrey Woods; Emma R. Woodward; Stephen J. Wort; Austen Worth; Michael Wright; Katherine Yates; Patrick F. K. Yong; Timothy Young; Ping Yu; Patrick Yu-Wai-Man; Eliska Zlamalova
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O , Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O , Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O ’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi -Alavijeh , O , Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O , Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O , Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina,O , Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina,O , Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, no. 7814, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Nature
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, 'Whole-genome sequencing of patients with rare diseases in a national health system', Nature, vol. 583, pp. 96-102. https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina,
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina,
Nature
Academic Journal
Siew K; London Tubular Centre, Department of Renal Medicine, University College London, London, UK. k.siew@ucl.ac.uk.; Nestler KA; The Institute for Biomedical Sciences (IBS), The George Washington University, Washington, DC, USA.; Nelson C; Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, CA, USA.; D'Ambrosio V; London Tubular Centre, Department of Renal Medicine, University College London, London, UK.; Department of Experimental and Translational Medicine, Università Cattolica del Sacro Cuore di Roma, Rome, Italy.; Zhong C; London Tubular Centre, Department of Renal Medicine, University College London, London, UK.; Li Z; London Tubular Centre, Department of Renal Medicine, University College London, London, UK.; Centre for Advanced Biomedical Imaging, University College London, London, UK.; Centre for Computational Medicine, University College London, London, UK.; Grillo A; London Tubular Centre, Department of Renal Medicine, University College London, London, UK.; Wan ER; London Tubular Centre, Department of Renal Medicine, University College London, London, UK.; Patel V; Department of Renal Medicine, University College London, London, UK.; Overbey E; Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA.; Kim J; Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA.; Yun S; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Vaughan MB; School of Medicine, College of Medicine and Health, University College Cork, Cork, Ireland.; Tissue Engineering and Biomaterials Group, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Cheshire C; Bioinformatics and Computational Biology Laboratory, The Francis Crick Institute, London, UK.; Cubitt L; Applied Biotechnology Laboratory, The Francis Crick Institute, London, UK.; Broni-Tabi J; Sainsbury Wellcome Centre for Neural Circuits and Behaviour, University College London, London, UK.; Al-Jaber MY; Anti-Doping Laboratory Qatar, Doha, Qatar.; Boyko V; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Meydan C; Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA.; Barker P; MRC MDU Mouse Biochemistry Laboratory, University of Cambridge, Cambridge, UK.; Arif S; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Afsari F; Department of Medicine-Nephrology & Intelligent Critical Care Center, University of Florida, Gainesville, FL, USA.; Allen N; Department of Biomedical Engineering, Rensselaer Polytechnic Institute, Troy, NY, USA.; Al-Maadheed M; Anti-Doping Laboratory Qatar, Doha, Qatar.; Centre of Metabolism and Inflammation, University College London, London, UK.; Altinok S; School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Bah N; Applied Biotechnology Laboratory, The Francis Crick Institute, London, UK.; Border S; Department of Medicine-Nephrology & Intelligent Critical Care Center, University of Florida, Gainesville, FL, USA.; Brown AL; Pharmacology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Burling K; MRC MDU Mouse Biochemistry Laboratory, University of Cambridge, Cambridge, UK.; Cheng-Campbell M; Department of Biomedical Engineering, Rensselaer Polytechnic Institute, Troy, NY, USA.; Blue Marble Space Institute of Science, Seattle, WA, USA.; Colón LM; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA.; Degoricija L; KBR, Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Figg N; Department of Medicine, University of Cambridge, Cambridge, UK.; Finch R; School of Health, Science and Wellbeing, Staffordshire University, Stoke-on-Trent, UK.; Foox J; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA.; Faridi P; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; French A; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Gebre S; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Gordon P; Sainsbury Wellcome Centre for Neural Circuits and Behaviour, University College London, London, UK.; Houerbi N; Physiology, Biophysics & Systems Biology, Weill Cornell Medical College, New York, NY, USA.; Valipour Kahrood H; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Monash Bioinformatics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Kiffer FC; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Klosinska AS; Division of Experimental Medicine & Immunotherapeutics (EMIT), Department of Medicine, University of Cambridge, Cambridge, UK.; Kubik A; Department of Biomedical Engineering, Rensselaer Polytechnic Institute, Troy, NY, USA.; Lee HC; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Li Y; State Key Laboratory of Space Medicine Fundamentals and Application, China Astronaut Research and Training Center, Beijing, China.; Lucarelli N; Department of Medicine-Nephrology & Intelligent Critical Care Center, University of Florida, Gainesville, FL, USA.; Marullo AL; School of Medicine, College of Medicine and Health, University College Cork, Cork, Ireland.; Matei I; Cornell Center for Immunology, Cornell University, Ithaca, NY, USA.; Children's Cancer and Blood Foundation Laboratories, Departments of Pediatrics and Cell and Developmental Biology, Drukier Institute for Children's Health, Meyer Cancer Center, Weill Cornell Medical College, New York, NY, USA.; McCann CM; Pharmacology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Mimar S; Department of Medicine-Nephrology & Intelligent Critical Care Center, University of Florida, Gainesville, FL, USA.; Naglah A; Department of Medicine-Nephrology & Intelligent Critical Care Center, University of Florida, Gainesville, FL, USA.; Nicod J; Advanced Sequencing Facility, The Francis Crick Institute, London, UK.; O'Shaughnessy KM; Division of Experimental Medicine & Immunotherapeutics (EMIT), Department of Medicine, University of Cambridge, Cambridge, UK.; Oliveira LC; Blue Marble Space Institute of Science, Seattle, WA, USA.; Federal University of São Paulo (UNIFESP), São Paulo, Brazil.; Oswalt L; Pharmacology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Patras LI; Pediatrics, Weill Cornell Medical College, New York, NY, USA.; Lai Polo SH; KBR, Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Rodríguez-Lopez M; Advanced Sequencing Facility, The Francis Crick Institute, London, UK.; Roufosse C; Department of Immunology and Inflammation, Imperial College London, London, UK.; Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, UK.; Sanchez-Hodge R; Pharmacology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Paul AS; Department of Medicine-Nephrology & Intelligent Critical Care Center, University of Florida, Gainesville, FL, USA.; Schittenhelm RB; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Schweickart A; Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA.; Englander Institute for Precision Medicine, Weill Cornell Medical College, New York, NY, USA.; Scott RT; KBR, Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Choy Lim Kam Sian TC; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; da Silveira WA; School of Health, Science and Wellbeing, Staffordshire University, Stoke-on-Trent, UK.; International Space University, 67400, Illkirch-Graffenstaden, France.; Slawinski H; Advanced Sequencing Facility, The Francis Crick Institute, London, UK.; Snell D; Advanced Sequencing Facility, The Francis Crick Institute, London, UK.; Sosa J; University Health Network, Toronto, ON, Canada.; Saravia-Butler AM; KBR, Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Tabetah M; Department of Agricultural and Biological Engineering, Purdue University, West Lafayette, IN, USA.; Tanuwidjaya E; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Walker-Samuel S; Centre for Advanced Biomedical Imaging, University College London, London, UK.; Centre for Computational Medicine, University College London, London, UK.; Yang X; Proteomics, King's College London, London, UK.; Yasmin; Division of Experimental Medicine & Immunotherapeutics (EMIT), Department of Medicine, University of Cambridge, Cambridge, UK.; Zhang H; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Godovac-Zimmermann J; Department of Renal Medicine, University College London, London, UK.; Sarder P; Department of Medicine-Quantitative Health Section, University of Florida, Gainesville, FL, USA.; Departments of Biomedical Engineering and Electrical and Computer Engineering, University of Florida, Gainesville, FL, USA.; Sanders LM; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Blue Marble Space Institute of Science, Seattle, WA, USA.; Costes SV; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Campbell RAA; Sainsbury Wellcome Centre for Neural Circuits and Behaviour, University College London, London, UK.; Karouia F; Blue Marble Space Institute of Science, Seattle, WA, USA.; Space Research Within Reach, San Francisco, CA, USA.; Center for Space Medicine, Baylor College of Medicine, Houston, TX, USA.; Mohamed-Alis V; Anti-Doping Laboratory Qatar, Doha, Qatar.; Centre of Metabolism and Inflammation, University College London, London, UK.; Rodriques S; Applied Biotechnology Laboratory, The Francis Crick Institute, London, UK.; Lynham S; Proteomics, King's College London, London, UK.; Steele JR; Monash Proteomics and Metabolomics Platform, Monash Biomedicine Discovery Institute, Monash University, Clayton, VIC, Australia.; Baranzini S; Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, CA, USA.; Fazelinia H; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA.; Dai Z; State Key Laboratory of Space Medicine Fundamentals and Application, China Astronaut Research and Training Center, Beijing, China.; Uruno A; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan.; Shiba D; Mouse Epigenetics Project, ISS/Kibo experiment, Japan Aerospace Exploration Agency (JAXA), Tsukuba, Ibaraki, Japan.; JEM Utilization Center, Human Spaceflight Technology Directorate, Japan Aerospace Exploration Agency (JAXA), Tsukuba, Ibaraki, Japan.; Yamamoto M; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan.; Department of Medical Biochemistry, Graduate School of Medicine, Tohoku University, Sendai, Miyagi, Japan.; A C Almeida E; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Blaber E; Department of Biomedical Engineering, Rensselaer Polytechnic Institute, Troy, NY, USA.; Center for Biotechnology & Interdisciplinary Studies, Rensselaer Polytechnic Institute, Troy, NY, USA.; Stanley Center for Psychiatric Research, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Schisler JC; Pharmacology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Eisch AJ; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neuroscience, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Muratani M; Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.; Zwart SR; Department of Preventative Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA.; Smith SM; NASA Johnson Space Center, Houston, TX, USA.; Galazka JM; Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Mason CE; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA.; The WorldQuant Initiative for Quantitative Prediction, Weill Cornell Medical College, New York, NY, USA.; The Feil Family Brain and Mind Research Institute, Weill Cornell Medical College, New York, NY, USA.; Beheshti A; KBR, Space Biosciences Division, NASA Ames Research Center, Moffett Field, CA, USA.; Broad Institute, Cambridge, MA, USA.; Space Biosciences Division, Universities Space Research Association (USRA), Washington, DC, USA.; Walsh SB; London Tubular Centre, Department of Renal Medicine, University College London, London, UK. stephen.walsh@ucl.ac.uk.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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Emilia M. Swietlik; Daniel Greene; Na Zhu; Karyn Megy; Marcella Cogliano; Smitha Rajaram; Divya Pandya; Tobias Tilly; Katie A. Lutz; Carrie C.L. Welch; Michael W. Pauciulo; Laura Southgate; Jennifer M. Martin; Carmen M. Treacy; Christopher J. Penkett; Jonathan C. Stephens; Harm J. Bogaard; Colin Church; Gerry Coghlan; Anna W. Coleman; Robin Condliffe; Christina A. Eichstaedt; Mélanie Eyries; Henning Gall; Stefano Ghio; Barbara Girerd; Ekkehard Grünig; Simon Holden; Luke Howard; Marc Humbert; David G. Kiely; Gabor Kovacs; Jim Lordan; Rajiv D. Machado; Robert V. MacKenzie Ross; Colm McCabe; Shahin Moledina; David Montani; Horst Olschewski; Joanna Pepke-Zaba; Laura Price; Christopher J. Rhodes; Werner Seeger; Florent Soubrier; Jay Suntharalingam; Mark R. Toshner; Anton Vonk Noordegraaf; John Wharton; James M. Wild; Stephen John Wort; Allan Lawrie; Martin R. Wilkins; Richard C. Trembath; Yufeng Shen; Wendy K. Chung; Andrew J. Swift; William C. Nichols; Nicholas W. 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Sims; Suthesh Sivapalaratnam; Damian Smedley; Katherine R. Smith; Kenneth G.C. Smith; Katie Snape; Nicole Soranzo; Olivera Spasic-Boskovic; Simon Staines; Emily Staples; Hannah Stark; Kathleen E. Stirrups; Alex Stuckey; Petros Syrris; R. Campbell Tait; Kate Talks; Rhea Y.Y. Tan; Jenny C. Taylor; John M. Taylor; James E. Thaventhiran; Andreas C. Themistocleous; David Thomas; Ellen Thomas; Moira J. Thomas; Patrick Thomas; Kate Thomson; Adrian J. Thrasher; Chantal Thys; Marc Tischkowitz; Catherine Titterton; Cheng-Hock Toh; Ian P. Tomlinson; Matthew Traylor; Paul Treadaway; Salih Tuna; Ernest Turro; Philip Twiss; Tom Vale; Chris Van Geet; Natalie van Zuydam; Anthony M Vandersteen; Marta Vazquez-Lopez; Julie von Ziegenweidt; Annette Wagner; Quinten Waisfisz; Neil Walker; Suellen M. Walker; James S. Ware; Hugh Watkins; Christopher Watt; Andrew R. Webster; Lucy Wedderburn; Wei Wei; Steven B. Welch; Julie Wessels; Sarah K. Westbury; John-Paul Westwood; Deborah Whitehorn; James Whitworth; Andrew O.M. Wilkie; Catherine Williamson; Brian T. Wilson; Edwin K.S. Wong; Nicholas Wood; Yvette Wood; Christopher Geoffrey Woods; Emma R. Woodward; Austen Worth; Michael Wright; Katherine Yates; Patrick F.K. Yong; Timothy Young; Ping Yu; Patrick Yu-Wai-Man; Eliska Zlamalova; Russel Hirsch; R. James White; Marc Simon; David Badesch; Erika Rosenzweig; Charles Burger; Murali Chakinala; Thenappan Thenappan; Greg Elliott; Robert Simms; Harrison Farber; Robert Frantz; Jean Elwing; Nicholas Hill; Dunbar Ivy; James Klinger; Steven Nathan; Ronald Oudiz; Ivan Robbins; Robert Schilz; Terry Fortin; Jeffrey Wilt; Delphine Yung; Eric Austin; Ferhaan Ahmad; Nitin Bhatt; Tim Lahm; Adaani Frost; Zeenat Safdar; Zia Rehman; Robert Walter; Fernando Torres; Sahil Bakshi; Stephen Archer; Rahul Argula; Christopher Barnett; Raymond Benza; Ankit Desai; Veeranna Maddipati
Circ Genom Precis Med
morrell 2021, 'Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155. https://doi.org/10.1161/CIRCGEN.120.003155
morrell 2021, 'Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155. https://doi.org/10.1161/CIRCGEN.120.003155
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