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

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

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

Author(s) -

Damian Smedley,

Katherine R. Smith,

A. Martı́n,

Ellen A Thomas,

Ellen M. McDonagh,

Valentina Cipriani,

Jamie M. Ellingford,

Gavin Arno,

Arianna Tucci,

Jana Vandrovcová,

G. C. Chan,

Hywel Williams,

Thiloka Ratnaike,

Wei Wei,

Kathleen Stirrups,

Kristina Ibáñez,

Loukas Moutsianas,

Matthias Wielscher,

Anna C. Need,

Michael R. Barnes,

Letizia Vestito,

James Buchanan,

Sarah Wordsworth,

Sofie Ashford,

Karola Rehmström,

Emily Li,

Gavin Fuller,

Philip Twiss,

Olivera Spasić-Bošković,

Sally Halsall,

R. Andres Floto,

Kenneth Poole,

Annette Wagner,

Sarju Mehta,

Mark Gurnell,

Nigel Burrows,

Roger James,

Christopher J. Penkett,

Eleanor Dewhurst,

Stefan Gräf,

Rutendo Mapeta,

Mary Kasanicki,

Andrea Haworth,

Helen Savage,

Melanie Babcock,

Martin G. Reese,

Mark Bale,

Emma L. Baple,

C. R. Boustred,

Helen Brittain,

Anna de Burca,

Marta Bleda,

A. Devereau,

Dina Halai,

Eik Haraldsdottir,

Zerin Hyder,

Dalia Kasperavičiūtė,

Christine Patch,

Dimitris Polychronopoulos,

Angela Matchan,

Răzvan Sultana,

Mina Ryten,

Ana Lisa Taylor Tavares,

Carolyn Tregidgo,

Clare Turnbull,

M. J. Welland,

S. M. Wood,

Catherine Snow,

Eleanor Williams,

S. E. A. Leigh,

Rebecca E. Foulger,

Louise C. Daugherty,

Olivia Niblock,

Ivone Leong,

Caroline F. Wright,

Jim Davies,

Charles Crichton,

James Welch,

Kerrie Woods,

Lara Abulhoul,

Paul Aurora,

Detlef Böckenhauer,

Alexander Broomfield,

Maureen Cleary,

Tanya Lam,

Mehul Dattani,

Emma Footitt,

Vijeya Ganesan,

Stephanie Grünewald,

Sandrine CompeyrotLacassagne,

Francesco Muntoni,

Clarissa Pilkington,

Rosaline C. M. Quinlivan,

Nikhil Thapar,

Colin Wallis,

Lucy R. Wedderburn,

Austen Worth,

Teofila Bueser,

Cecilia Compton,

Charu Deshpande,

Hiva Fassihi,

Eshika Haque,

Louise Izatt,

Dragana Josifova,

Shehla Mohammed,

Leema Robert,

Sarah Rose,

Deborah Ruddy,

Robert Sarkany,

Genevieve Say,

Adam Shaw,

A. Wolejko,

Bishoy Habib,

Gavin Burns,

Sarah Hunter,

Russell Grocock,

Sean Humphray,

Peter N. Robinson,

Melissa Haendel,

Michael A. Simpson,

Siddharth Banka,

Jill ClaytonSmith,

Sofia Douzgou,

Georgina Hall,

Huw B. Thomas,

Raymond T. O’Keefe,

Michel Michaelides,

Anthony T. Moore,

Sam Malka,

Nikolas Pontikos,

Andrew C. Browning,

Volker Straub,

Gráinne S. Gorman,

Rita Horváth,

Richard Quinton,

Andrew M. Schaefer,

Patrick YuWaiMan,

Douglass M. Turnbull,

Robert McFarland,

Robert W. Taylor,

Emer O’Connor,

Janice Yip,

Katriewland,

Huw R. Morris,

James M. Polke,

Nicholas Wood,

Carolyn Campbell,

Carlos Camps,

Kate Gibson,

Nils Koelling,

Tracy Lester,

Andrea H. Németh,

Claire Palles,

Smita Y. Patel,

Noémi Roy,

Arjune Sen,

John Taylor,

Pilar Cacheiro,

Julius O.B. Jacobsen,

Eleanor G. Seaby,

Val Davison,

Lyn S. Chitty,

Angela Douglas,

Kikkeri N. Naresh,

Dom McMullan,

Sian Ellard,

I. Karen Temple,

Andrew Mumford,

Gill Wilson,

Phil Beales,

Maria BitnerGlindzicz,

Graeme Black,

John R. Bradley,

Paul Brennan,

John Burn,

Patrick F. Chinnery,

Perry Elliott,

Frances Flinter,

Henry Houlden,

Melita Irving,

William G. Newman,

Shamima Rahman,

John A. Sayer,

Jenny C. Taylor,

Andrew R. Webster,

Andrew O.M. Wilkie,

Willem H. Ouwehand,

F. Lucy Raymond,

John D. Chisholm,

Sue Hill,

David L. Bentley,

Richard H. Scott,

Tom Fowler,

Augusto Rendon,

Mark J. Caulfield

Publication year - 2021

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa2035790

Subject(s) - genome , health care , disease , medicine , rare disease , cancer , family medicine , biology , genetics , pathology , gene , political science , law

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