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๐
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Whole-genome sequencing of patients with rare diseases in a national health system
452 auth.
E. Turro,
W. Astle,
K. Megy,
S. Grรคf,
D. Greene,
O. Shamardina,
H. L. Allen,
Alba Sanchis-Juan,
M. Frontini,
C. Thys,
J. Stephens,
R. Mapeta,
O. Burren,
K. Downes,
M. Haimel,
...
Salih Tuna,
Sri V. V. Deevi,
T. Aitman,
David L. Bennett,
P. Calleja,
K. Carss,
M. Caulfield,
P. Chinnery,
P. Dixon,
D. Gale,
R. James,
A. Koziell,
M. Laffan,
A. Levine,
E. Maher,
H. Markus,
Joannella Morales,
N. Morrell,
A. Mumford,
E. Ormondroyd,
Stuart Rankin,
A. Rendon,
S. Richardson,
I. Roberts,
N. Roy,
M. Saleem,
Kenneth G. C. Smith,
H. Stark,
R. Tan,
Andreas C Themistocleous,
A. Thrasher,
H. Watkins,
A. Webster,
M. Wilkins,
C. Williamson,
J. Whitworth,
S. Humphray,
D. Bentley,
S. Abbs,
L. Abulhoul,
J. Adlard,
Munaza Ahmed,
H. Alachkar,
D. Allsup,
J. Almeida-King,
P. Ancliff,
R. Antrobus,
R. Armstrong,
G. Arno,
Sofie Ashford,
A. Attwood,
P. Aurora,
C. Babbs,
C. Bacchelli,
T. Bakchoul,
S. Banka,
T. Bariana,
J. Barwell,
Joana Batista,
H. Baxendale,
P. Beales,
A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
G. Black,
M. Bleda,
Iulia Blesneac,
D. Bockenhauer,
H. Bogaard,
Christian J. Bourne,
S. Boyce,
J. Bradley,
E. Bragin,
G. Breen,
P. Brennan,
C. Brewer,
Matthew Brown,
A. Browning,
M. Browning,
R. Buchan,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
J. Burn,
S. Burns,
N. Burrows,
Carolyn Campbell,
G. Carr-White,
R. Casey,
Jenny Chambers,
John Chambers,
M. Chan,
Calvin Cheah,
F. Cheng,
M. Chitre,
M. Christian,
C. Church,
J. Clayton-Smith,
M. Cleary,
Naomi Clements Brod,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
Camilla Colombo,
C. Compton,
R. Condliffe,
S. Cook,
H. Cook,
Nichola H Cooper,
P. Corris,
A. Furnell,
Fiona Cunningham,
N. Curry,
A. Cutler,
M. Daniels,
M. Dattani,
L. Daugherty,
John Davis,
A. De Soyza,
Timothy Dent,
C. Deshpande,
Eleanor F. Dewhurst,
S. Douzgou,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
J. Edgar,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
P. Elliott,
W. Erber,
M. Erwood,
M. Estiรบ,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
H. Fassihi,
R. Favier,
J. Findhammer,
Debra Fletcher,
F. Flinter,
R. Floto,
T. Fowler,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
H. Gall,
V. Ganesan,
M. Gattens,
C. Geoghegan,
Terence S. A. Gerighty,
A. Gharavi,
S. Ghio,
H. Ghofrani,
J. Gibbs,
Kate Gibson,
K. Gilmour,
B. Girerd,
Nicholas S. Gleadall,
S. Goddard,
D. Goldstein,
K. Gomez,
Pavels Gordins,
D. Gosal,
J. Graham,
L. Grassi,
L. Greenhalgh,
A. Greinacher,
P. Gresele,
P. Griffiths,
S. Grigoriadou,
R. Grocock,
D. Grozeva,
M. Gurnell,
S. Hackett,
C. Hadinnapola,
W. Hague,
R. Hague,
M. Hall,
H. Hanson,
Eshika Haque,
K. Harkness,
A. Harper,
Claire L. Harris,
D. Hart,
Ahamad Hassan,
G. Hayman,
A. Henderson,
A. Herwadkar,
Jonathan Hoffman,
S. Holden,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
Fengyuan Hu,
G. Hudson,
J. Hughes,
A. Huissoon,
M. Humbert,
Sarah Hunter,
Matthew Hurles,
M. Irving,
L. Izatt,
Sally A. Johnson,
S. Jolles,
J. Jolley,
D. Josifova,
Neringa Jurkute,
Tim Karten,
J. Karten,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
P. Kelleher,
A. Kelly,
W. Kelsall,
Carly Kempster,
D. Kiely,
N. Kingston,
R. Klima,
Nils Koelling,
Myrto A. Kostadima,
G. Kovacs,
Roman Kreuzhuber,
T. Kuijpers,
Ajith Kumar,
D. Kumararatne,
M. Kurian,
F. Lalloo,
Michele P. Lambert,
A. Lawrie,
D. M. Layton,
N. Lench,
C. Lentaigne,
T. Lester,
R. Linger,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
P. Lyons,
R. Machado,
R. M. MacKenzie Ross,
B. Madan,
Jesmeen Maimaris,
S. Malka,
S. Mangles,
K. Marchbank,
S. Marks,
H. Marschall,
Andrew Marshall,
Jennifer M. Martin,
M. Mathias,
E. Matthews,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
H. McKinney,
A. McMahon,
Stuart Meacham,
A. Mead,
Ignacio Castellรณ,
S. Mehta,
M. Michaelides,
C. Millar,
S. Mohammed,
S. Moledina,
D. Montani,
A. Moore,
M. Mozere,
K. Muir,
A. Nemeth,
W. G. Newman,
M. Newnham,
S. Noorani,
P. Nurden,
J. O'Sullivan,
S. Obaji,
C. Odhams,
S. Okoli,
A. Olschewski,
H. Olschewski,
K. Ong,
S. Oram,
W. Ouwehand,
C. Palles,
S. Papadia,
Soo-Mi Park,
D. Parry,
Smita Y. Patel,
J. Paterson,
A. Peacock,
S. H. Pearce,
J. Peden,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
Romina Petersen,
C. Pilkington,
Ken Poole,
Radhika Prathalingam,
B. Psaila,
A. Pyle,
R. Quinton,
S. Rahman,
A. Rao,
F. Raymond,
Paula Rayner-Matthews,
Christine Rees,
T. Renton,
Christopher J. Rhodes,
Andrew S C Rice,
A. Richter,
L. Robert,
Anthony Rogers,
S. Rose,
R. Ross-Russell,
Catherine Roughley,
D. Ruddy,
O. Sadeghi-Alavijeh,
N. Samani,
C. Samarghitean,
R. Sargur,
R. Sarkany,
S. Satchell,
S. Savic,
J. Sayer,
G. Sayer,
L. Scelsi,
A. Schaefer,
Sol Schulman,
R. Scott,
M. Scully,
C. Searle,
W. Seeger,
Arjune Sen,
W. Sewell,
Denis Seyres,
N. Shah,
S. Shapiro,
A. Shaw,
Patrick J. Short,
Keith R Sibson,
L. Side,
Ilenia Simeoni,
Michael Simpson,
M. C. Sims,
S. Sivapalaratnam,
D. Smedley,
Katherine R. Smith,
K. Snape,
N. Soranzo,
F. Soubrier,
L. Southgate,
O. Spasic-Boskovic,
Simon Staines,
E. Staples,
C. Steward,
K. Stirrups,
A. Stuckey,
J. Suntharalingam,
E. Swietlik,
P. Syrris,
R. Tait,
K. Talks,
Katie Tate,
John M. Taylor,
Jenny C. Taylor,
James E. D. Thaventhiran,
E. Thomas,
D. Thomas,
Moira J. Thomas,
Patrick Thomas,
K. Thomson,
Glen Threadgold,
T. Tilly,
M. Tischkowitz,
Catherine Titterton,
J. Todd,
C. Toh,
B. Tolhuis,
I. Tomlinson,
M. Toshner,
M. Traylor,
C. Treacy,
Paul Treadaway,
R. Trembath,
Wojciech Turek,
E. Turro,
Philip Twiss,
Tom A Vale,
C. Geet,
N. Zuydam,
Maarten Vandekuilen,
A. Vandersteen,
Marta Vazquez-Lopez,
J. von Ziegenweidt,
A. Vonk Noordegraaf,
Annette Wagner,
Q. Waisfisz,
S. Walker,
Neil E. Walker,
Klaudia Walter,
J. Ware,
C. Watt,
L. Wedderburn,
Wei Wei,
S. Welch,
Julie Wessels,
S. Westbury,
J. Westwood,
J. Wharton,
Deborah Whitehorn,
A. Wilkie,
Brian T. Wilson,
E. Wong,
N. Wood,
Y. Wood,
C. Woods,
E. Woodward,
S. Wort,
A. Worth,
Michael Wright,
Katherine Yates,
P. Yong,
Tim Young,
Ping Yu,
P. Yu-Wai-Man,
Eliska Zlamalova,
F. Raymond,
W. Ouwehand
|
8 |
2020 |
8
๐
|
|
๐
|
Transcriptional diversity during lineage commitment of human blood progenitors
66 auth.
Lu Chen,
Myrto A. Kostadima,
J. Martens,
Giovanni Canu,
S. Garcia,
E. Turro,
K. Downes,
I. Macaulay,
Ewa Bielczyk-Maczyลska,
Sophia Coe,
Samantha Farrow,
Pawan Poudel,
Frances Burden,
Sjoert B. G. Jansen,
W. Astle,
...
A. Attwood,
T. Bariana,
B. Bono,
A. Breschi,
J. Chambers,
F. Choudry,
Laura Clarke,
P. Coupland,
M. Ent,
W. Erber,
J. Jansen,
R. Favier,
M. Fenech,
Nicola S. Foad,
K. Freson,
C. Geet,
K. Gomez,
R. Guigรณ,
D. Hampshire,
A. Kelly,
H. Kerstens,
J. Kooner,
M. Laffan,
C. Lentaigne,
C. Labalette,
T. Martin,
Stuart Meacham,
A. Mumford,
Sylvia Nรผrnberg,
Emilio Palumbo,
B. V. D. Reijden,
David Richardson,
S. Sammut,
Greg Slodkowicz,
Asif U. Tamuri,
Louella Vasquez,
K. Voss,
S. Watt,
S. Westbury,
Paul Flicek,
R. Loos,
N. Goldman,
Paul Bertone,
Randy J. Read,
S. Richardson,
A. Cvejic,
N. Soranzo,
W. Ouwehand,
H. Stunnenberg,
M. Frontini,
A. Rendon
|
8 |
2014 |
8
๐
|
|
๐
|
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
79 auth.
Ilenia Simeoni,
J. Stephens,
Fengyuan Hu,
Sri V. V. Deevi,
K. Megy,
T. Bariana,
C. Lentaigne,
Sol Schulman,
S. Sivapalaratnam,
Minka J. A. Vries,
S. Westbury,
D. Greene,
S. Papadia,
M. Alessi,
A. Attwood,
...
M. Ballmaier,
G. Baynam,
E. Bermejo,
M. Bertoli,
P. Bray,
L. Bury,
M. Cattaneo,
P. Collins,
L. Daugherty,
R. Favier,
D. French,
B. Furie,
M. Gattens,
M. Germeshausen,
C. Ghevaert,
A. Goodeve,
J. Guerrero,
D. Hampshire,
D. Hart,
J. Heemskerk,
Y. Henskens,
M. Hill,
Nancy Hogg,
J. Jolley,
W. Kahr,
A. Kelly,
R. Kerr,
Myrto A. Kostadima,
S. Kunishima,
Michele P. Lambert,
R. Liesner,
Josรฉ A Lรณpez,
R. Mapeta,
M. Mathias,
C. Millar,
A. Nathwani,
M. Neerman-Arbez,
A. Nurden,
P. Nurden,
M. Othman,
K. Peerlinck,
D. Perry,
Pawan Poudel,
P. Reitsma,
M. Rondina,
P. Smethurst,
W. Stevenson,
A. Szkotak,
Salih Tuna,
C. van Geet,
Deborah Whitehorn,
D. Wilcox,
Bin Zhang,
S. Revel-Vilk,
P. Gresele,
D. Bellissimo,
C. Penkett,
M. Laffan,
A. Mumford,
A. Rendon,
K. Gomez,
K. Freson,
W. Ouwehand,
E. Turro
|
7 |
2016 |
7
๐
|
|
๐
|
Whole genome sequencing of a sporadic primary immunodeficiency cohort
602 auth.
James E. D. Thaventhiran,
Hana Lango Allen,
O. Burren,
W. Rae,
D. Greene,
E. Staples,
Zinan Zhang,
J. H. Farmery,
Ilenia Simeoni,
E. Rivers,
Jesmeen Maimaris,
C. Penkett,
J. Stephens,
Sri V. V. Deevi,
Alba Sanchis-Juan,
...
Nicholas S. Gleadall,
Moira J. Thomas,
R. Sargur,
Pavels Gordins,
H. Baxendale,
Matthew Brown,
P. Tuijnenburg,
A. Worth,
S. Hanson,
R. Linger,
M. Buckland,
Paula Rayner-Matthews,
K. Gilmour,
C. Samarghitean,
S. Seneviratne,
D. Sansom,
A. Lynch,
K. Megy,
E. Ellinghaus,
D. Ellinghaus,
S. Jรธrgensen,
T. Karlsen,
K. Stirrups,
A. Cutler,
D. Kumararatne,
Anita Chandra,
J. D. Edgar,
A. Herwadkar,
Nichola H Cooper,
S. Grigoriadou,
A. Huissoon,
S. Goddard,
S. Jolles,
C. Schuetz,
Felix Boschann,
S. Abbs,
Z. Adhya,
J. Adlard,
M. Afzal,
I. Ahmed,
Munaza Ahmed,
Saeed Ahmed,
T. Aitman,
H. Alachkar,
J. Alamelu,
R. Alikhan,
C. Allen,
L. Allen,
D. Allsup,
Arif Alvi,
G. Ambegaonkar,
A. Anantharachagan,
P. Ancliff,
Julie Anderson,
R. Antrobus,
R. Armstrong,
G. Arno,
G. Arumugakani,
R. Arya,
Sofie Ashford,
W. Astle,
A. Attwood,
S. Austin,
Y. Aydinok,
Waqar Ayub,
C. Babbs,
C. Bacchelli,
T. Baglin,
T. Bakchoul,
T. Bariana,
J. Barratt,
J. Barwell,
John Baski,
R. Bates,
Joana Batista,
G. Baynam,
David L. Bennett,
C. Bethune,
N. Bhatnagar,
Shahnaz Bibi,
A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
M. Bleda,
Iulia Blesneac,
Barbara Boardman,
P. Boddana,
H. Bogaard,
C. Booth,
S. Boyce,
J. Bradley,
A. Brady,
G. Breen,
P. Brennan,
C. Brewer,
A. Briley,
Richard Brown,
M. Browning,
M. Brownlie,
Christine J. Bryson,
R. Buchan,
J. Buck,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
S. Burns,
P. Calleja,
J. Carmichael,
G. Carr-White,
K. Carss,
R. Casey,
E. Chalmers,
Jenny Chambers,
John Chambers,
M. Chan,
Melissa V. Chan,
F. Cheng,
Ivan K. Chinn,
P. Chinnery,
M. Chitre,
S. Chong,
M. Christian,
C. Church,
E. Clement,
Naomi Clements Brod,
H. Clifford,
V. Clowes,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
R. Condliffe,
H. Cook,
S. Cook,
V. Cookson,
P. Corris,
A. Creaser-Myers,
Abigail Crisp-Hihn,
N. Curry,
Rosa Da Costa,
C. Danesino,
M. Daniels,
D. Darby,
L. Daugherty,
E. Davies,
Sophie Davies,
John Davis,
G. D. de Bree,
S. Deacock,
P. Deegan,
Sri V. V. Deevi,
J. Dempster,
Timothy Dent,
C. Deshpande,
L. Devlin,
Eleanor F. Dewhurst,
A. Dixit,
P. Dixon,
R. Doffinger,
H. Dolling,
N. Dormand,
K. Downes,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
T. El-shanawany,
S. Elkhalifa,
T. Elston,
I. Emmerson,
W. Erber,
M. Erwood,
M. Estiรบ,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
R. Favier,
H. Firth,
Maggie M. Fitzpatrick,
Debra Fletcher,
F. Flinter,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
M. Frontini,
B. Furie,
D. Gale,
H. Gall,
A. Gardham,
H. Gaspar,
M. Gattens,
N. Ghali,
P. Ghataorhe,
S. Ghio,
H. Ghofrani,
Rohit R. Ghurye,
J. Gibbs,
R. Gilbert,
B. Girerd,
J. Girling,
P. Gissen,
K. Gorman,
D. Gosal,
S. Graf,
L. Grassi,
A. Greenhalgh,
L. Greenhalgh,
A. Greinacher,
P. Gresele,
P. Griffiths,
S. Griffiths,
D. Grozeva,
S. Hackett,
R. Hadden,
C. Hadinnapola,
R. Hague,
W. Hague,
M. Haimel,
M. Hall,
Csaba Halmagyi,
Tracey Hammerton,
H. Hanson,
K. Harkness,
A. Harper,
L. Harper,
Claire L. Harris,
C. Harrison,
D. Hart,
Ahamad Hassan,
G. Hayman,
J. Heemskerk,
S. Hegde,
A. Henderson,
R. Henderson,
A. Hensiek,
Y. Henskens,
J. Hodgson,
Jonathan Hoffman,
S. Holden,
M. Holder,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
Fengyuan Hu,
G. Hudson,
Sean Hughes,
Stephen Hughes,
A. E. Huis in โt Veld,
M. Humbert,
M. Hurles,
J. Hurst,
V. Irvine,
L. Izatt,
R. James,
P. Jeevaratnam,
M. Johnson,
Sally A. Johnson,
J. Jolley,
Bryony Jones,
Julie Jones,
D. Josifova,
Neringa Jurkute,
Yousuf M. Karim,
M. Karoshi,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
D. Keeling,
P. Kelleher,
A. Kelly,
Carly Kempster,
F. Kennedy,
S. Kiani,
D. Kiely,
N. Kingston,
S. Kinsey,
N. Klein,
R. Klima,
E. Knox,
Myrto A. Kostadima,
G. Kovacs,
A. Koziell,
Roman Kreuzhuber,
D. Krishnakumar,
T. Kuijpers,
Ajith Kumar,
M. Kurian,
J. Laffan,
M. Laffan,
F. Lalloo,
Michele P. Lambert,
Hana Lango Allen,
S. Lawman,
A. Lawrie,
D. M. Layton,
S. Lear,
M. Lees,
C. Lentaigne,
A. Levine,
A. Lewington,
Wei Li,
R. Liesner,
B. Liu,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
Silvia Lucato Hadeler,
Paul A. Lyons,
M. Macdougall,
R. Machado,
R. M. MacKenzie Ross,
L. Mackillop,
R. MacLaren,
B. Madan,
Laura Magee,
M. Mahdi-Rogers,
E. Maher,
M. Makris,
S. Mangles,
A. Manson,
A. Manzur,
R. Mapeta,
K. Marchbank,
P. Mark,
S. Marks,
H. Markus,
H. Marschall,
Andrew Marshall,
Jennifer M. Martin,
Larahmie Masati,
M. Mathias,
Vera Matser,
E. Matthews,
A. Maw,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
E. McDermott,
S. McGowan,
Coleen McJannet,
H. McKinney,
Stuart Meacham,
A. Mead,
Ignacio Castellรณ,
S. Meehan,
K. Megy,
S. Mehta,
C. Mercer,
M. Michaelides,
Anna C. Michell,
D. Milford,
C. Millar,
H. Millar,
Anoop Mistry,
F. Moenen,
S. Moledina,
D. Montani,
A. Moore,
Jason Moore,
N. Morrell,
Valerie Morrisson,
M. Mozere,
K. Muir,
A. Mumford,
S. Murng,
Iman Nasir,
S. Nejentsev,
M. Newnham,
J. Ng,
A. Ngoh,
S. Noorani,
M. Noori,
P. Nurden,
J. O'Sullivan,
S. Obaji,
S. Okoli,
ร. Oksenhendler,
A. Olschewski,
H. Olschewski,
A. Ong,
K. Ong,
Helen Oram,
E. Ormondroyd,
Shokri Othman,
W. Ouwehand,
A. Pantazis,
S. Papadia,
A. Papandreou,
Soo-Mi Park,
A. Parker,
D. Parry,
Georgina Parsons,
K. Pasi,
J. Paterson,
J. Payne,
A. Peacock,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
D. Perry,
Romina Petersen,
B. Piechowski-Jรณลบwiak,
F. Pinto,
Gary Polwarth,
Mark J. Ponsford,
S. Prasad,
I. Prokopenko,
B. Psaila,
A. Pyle,
W. Qasim,
Ellen Quinn,
I. Quinti,
S. Raina,
Lavanya Ranganathan,
J. Rankin,
Stuart Rankin,
A. Rao,
F. L. Raymond,
Karola Rehnstrom,
E. Reid,
M. Reilly,
T. Renton,
S. Revel-Vilk,
Christopher J. Rhodes,
Andrew S C Rice,
Emma E. Richards,
M. Richards,
S. Richardson,
A. Richter,
L. Robert,
I. Roberts,
M. Rondina,
E. Rosser,
P. Rothwell,
Catherine Roughley,
N. Roy,
Kevin C. Rue-Albrecht,
O. Sadeghi-Alavijeh,
M. Saleem,
R. Salmon,
N. Samani,
J. Sambrook,
R. Sandford,
S. Santra,
S. Satchell,
S. Savic,
L. Scelsi,
Gwen Schotte,
Sol Schulman,
H. Schulze,
R. Scott,
M. Scully,
C. Searle,
W. Seeger,
W. Sewell,
Denis Seyres,
F. Shackley,
O. Shamardina,
S. Shapiro,
Pankaj Sharma,
H. Shehata,
Deborah Shipley,
R. Shtoyerman,
Keith R Sibson,
L. Side,
Michael Simpson,
M. C. Sims,
M. Sinha,
S. Sivapalaratnam,
A. Skytte,
Kenneth G. C. Smith,
K. Snape,
L. Sneddon,
A. Sohal,
F. Soubrier,
L. Southgate,
M. Southwood,
M. Splitt,
Simon Staines,
H. Stark,
H. Stauss,
C. Steele,
D. Stein,
P. Stein,
K. Stirrups,
S. Stock,
M. Stubbs,
J. Suntharalingam,
E. Swietlik,
E. Symington,
R. Tait,
K. Talks,
R. Tan,
G. Taylor,
J. Thachil,
James E. D. Thaventhiran,
Andreas C Themistocleous,
D. Thomas,
E. Thomas,
Patrick Thomas,
D. Thompson,
K. Thomson,
A. Thrasher,
C. Thys,
T. Tilly,
M. Tischkowitz,
Catherine Titterton,
J. Todd,
C. Toh,
A. Tool,
M. Toshner,
M. Traylor,
C. Treacy,
Paul Treadaway,
R. Trembath,
S. Trippier,
Salih Tuna,
Wojciech Turek,
E. Turro,
P. Upton,
Rafal Urniaz,
Tom A Vale,
C. van Geet,
Natalie R. van Zuydam,
A. Vandersteen,
Marta Vazquez-Lopez,
M. Veltman,
J. Vogt,
J. von Ziegenweidt,
A. Vonk Noordegraaf,
A. Vora,
Minka J. A. Vries,
E. Wakeling,
Neil E. Walker,
S. Walker,
R. Walsh,
Ivy Wanjiku,
J. Ware,
Timothy Q. Warner,
E. Wassmer,
H. Watkins,
Henry G. Watson,
C. Watt,
D. Waugh,
Nick Webb,
A. Webster,
Wei Wei,
Angela Welch,
S. Welch,
D. Werring,
Julie Wessels,
S. Westbury,
J. Westwood,
J. Wharton,
Deborah Whitehorn,
J. Whitworth,
M. Wilkins,
L. Willcocks,
David J. Williams,
C. Williamson,
E. Wong,
N. Wood,
Y. Wood,
C. Woods,
E. Woodward,
S. Workman,
S. Wort,
Katherine Yates,
Nigel Yeatman,
P. Yong,
Tim Young,
Ping Yu,
P. Yu-Wai-Man,
Eliska Zlamalova,
Paul A. Lyons,
S. Savic,
E. Turro,
W. Ouwehand,
A. Thrasher,
Kenneth G. C. Smith
|
7 |
2018 |
7
๐
|
|
๐
|
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
40 auth.
S. Westbury,
E. Turro,
D. Greene,
C. Lentaigne,
A. Kelly,
T. Bariana,
Ilenia Simeoni,
X. Pillois,
A. Attwood,
S. Austin,
Sjoert B. G. Jansen,
T. Bakchoul,
Abigail Crisp-Hihn,
W. Erber,
R. Favier,
...
Nicola S. Foad,
M. Gattens,
J. Jolley,
R. Liesner,
Stuart Meacham,
C. Millar,
A. Nurden,
K. Peerlinck,
D. Perry,
Pawan Poudel,
Sol Schulman,
H. Schulze,
J. Stephens,
B. Furie,
P. Robinson,
C. van Geet,
A. Rendon,
K. Gomez,
M. Laffan,
Michele P. Lambert,
P. Nurden,
W. Ouwehand,
S. Richardson,
A. Mumford,
K. Freson
|
7 |
2015 |
7
๐
|
|
๐
|
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
45 auth.
Simon Stritt,
P. Nurden,
E. Turro,
D. Greene,
Sjoert B. G. Jansen,
S. Westbury,
Romina Petersen,
W. Astle,
S. Marlin,
T. Bariana,
Myrto A. Kostadima,
C. Lentaigne,
S. Maiwald,
S. Papadia,
A. Kelly,
...
J. Stephens,
C. Penkett,
Sofie Ashford,
Salih Tuna,
S. Austin,
T. Bakchoul,
P. Collins,
R. Favier,
Michele P. Lambert,
M. Mathias,
C. Millar,
R. Mapeta,
David J. Perry,
Sol Schulman,
Ilenia Simeoni,
C. Thys,
K. Gomez,
W. Erber,
K. Stirrups,
A. Rendon,
John R. Bradley,
C. van Geet,
F. Raymond,
M. Laffan,
A. Nurden,
B. Nieswandt,
S. Richardson,
K. Freson,
W. Ouwehand,
A. Mumford
|
7 |
2016 |
7
๐
|
|
๐ฆ
|
Inherited platelet disorders: toward DNA-based diagnosis.
C. Lentaigne,
K. Freson,
M. Laffan,
E. Turro,
W. Ouwehand
|
6 |
2016 |
6
๐ฆ
|
|
๐
|
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
43 auth.
E. Turro,
D. Greene,
Anouck Wijgaerts,
C. Thys,
C. Lentaigne,
T. Bariana,
S. Westbury,
A. Kelly,
D. Selleslag,
J. Stephens,
S. Papadia,
Ilenia Simeoni,
C. Penkett,
Sofie Ashford,
A. Attwood,
...
S. Austin,
T. Bakchoul,
P. Collins,
Sri V. V. Deevi,
R. Favier,
Myrto A. Kostadima,
Michele P. Lambert,
M. Mathias,
C. Millar,
K. Peerlinck,
D. Perry,
Sol Schulman,
Deborah Whitehorn,
C. Wittevrongel,
M. de Maeyer,
A. Rendon,
K. Gomez,
W. Erber,
A. Mumford,
P. Nurden,
K. Stirrups,
J. Bradley,
F. Lucy Raymond,
M. Laffan,
C. van Geet,
S. Richardson,
K. Freson,
W. Ouwehand
|
6 |
2016 |
6
๐
|
|
๐
|
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
299 auth.
C. Hadinnapola,
M. Bleda,
M. Haimel,
N. Screaton,
Andrew J Swift,
P. Dorfmรผller,
Stephen D. Preston,
M. Southwood,
Jules Hernรกndez-Sรกnchez,
Jennifer M. Martin,
C. Treacy,
Katherine Yates,
H. Bogaard,
Colin Church,
G. Coghlan,
...
R. Condliffe,
P. Corris,
S. Gibbs,
B. Girerd,
S. Holden,
Marc Humbert,
D. Kiely,
A. Lawrie,
R. Machado,
R. M. MacKenzie Ross,
S. Moledina,
D. Montani,
M. Newnham,
A. Peacock,
J. Pepke-Zaba,
Paula Rayner-Matthews,
O. Shamardina,
F. Soubrier,
L. Southgate,
J. Suntharalingam,
M. Toshner,
R. Trembath,
A. Noordegraaf,
Martin R. Wilkins,
S. J. Wort,
J. Wharton,
S. Grรคf,
N. Morrell,
T. Aitman,
David L. Bennett,
M. Caulfield,
Patrick F. Chinnery,
D. Gale,
A. Koziell,
Taco W. Kuijpers,
M. Laffan,
Eamonn R. Maher,
Hugh S. Markus,
W. Ouwehand,
David J. Perry,
F. Raymond,
Irene Roberts,
Kenneth G. C. Smith,
Adrian Thrasher,
Hugh Watkins,
C. Williamson,
G. Woods,
Sofie Ashford,
John R. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
C. Penkett,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
M. Erwood,
Amy J. Frary,
R. Linger,
S. Papadia,
Karola Rehnstrom,
Hannah Stark,
D. Allsup,
Steve Austin,
T. Bakchoul,
T. Bariana,
P. Bolton-Maggs,
Elizabeth Chalmers,
P. Collins,
Wendy N. Erber,
T. Everington,
R. Favier,
K. Freson,
Bruce Furie,
M. Gattens,
Keith Gomez,
D. Greene,
Andreas Greinacher,
Daniel Hart,
Johan W M Heemskerk,
Y. Henskens,
R. Kazmi,
David Keeling,
Anne M Kelly,
Michele P. Lambert,
C. Lentaigne,
R. Liesner,
S. Mangles,
M. Mathias,
C. Millar,
A. Mumford,
P. Nurden,
Jeanette Payne,
J. Pasi,
David J. Perry,
K. Peerlinck,
Michael Richards,
Matthew T Rondina,
Catherine Roughley,
Sol Schulman,
Harald Schulze,
M. Scully,
S. Sivapalaratnam,
R. C. Tait,
K. Talks,
J. Thachil,
E. Turro,
Cheng-Hock Toh,
C. van Geet,
Minka De Vries,
Timothy Q. Warner,
S. Westbury,
A. Furnell,
R. Mapeta,
Ilenia Simeoni,
Simon Staines,
J. Stephens,
Deborah Whitehorn,
C. Watt,
A. Attwood,
L. Daugherty,
Sri V. V. Deevi,
Csaba Halmagyi,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
Catherine Titterton,
Salih Tuna,
Ping Yu,
Julie von Ziegenweldt,
W. Astle,
K. Carss,
H. Lango-Allen,
Sylvia Richardson,
P. Calleja,
Stuart Rankin,
Wojciech Turek,
Christine J. Bryson,
Julie Anderson,
Coleen McJannet,
S. Stock,
E. Wassmer,
A. Sohal,
S. Santra,
J. Vogt,
M. Chitre,
D. Krishnakumar,
Gautum Ambegaonkar,
Anna Maw,
R. Armstrong,
Soo-Mi Park,
S. Mehta,
J. Paterson,
J. Carmichael,
L. Allen,
Anke Hensiek,
Helen V Firth,
Penelope Stein,
P. Deegan,
R. Doffinger,
Alasdair P. Parker,
M. Bitner-Glindzicz,
R. Scott,
Jane A Hurst,
E. Rosser,
Melissa Lees,
Emma Clement,
R. Henderson,
Dorothy A Thompson,
A. Gardham,
P. Gissen,
D. Josifova,
E. Thomas,
Chris Patch,
C. Deshpande,
Frances A Flinter,
M. Holder,
N. Canham,
E. Wakeling,
S. Holder,
N. Ghali,
A. Brady,
V. Clowes,
R. MacLaren,
A. Webster,
Anthony L Moore,
G. Arno,
M. Michaelides,
Julia Rankin,
M. Kurian,
Elaine Murphy,
Alba Sanchis-Juan,
D. Grozeva,
Evan Reid,
G. Woods,
M. Tischkowitz,
R. Sandford,
Sonia Ali,
A. Creaser-Myers,
V. Cookson,
Rosa Dacosta,
N. Dormand,
P. Ghataorhe,
A. Greenhalgh,
Anna E. Huis inโt Veld,
Fiona Kennedy,
R. M. MacKenzie Ross,
Larahmie Masati,
S. Meehan,
Shokri Othman,
Val Pollock,
Gary Polwarth,
Christopher J. Rhodes,
Kevin C. Rue-Albrecht,
Gwen Schotte,
Deborah Shipley,
Yvonne Tan,
Ivy Wanjiku,
John Wort,
Taco W. Kuijpers,
James E. D. Thaventhiran,
Hana Lango Allen,
E. Staples,
C. Samarghitean,
H. Alachkar,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
C. Booth,
Michael Browning,
Siobhan O. Burns,
Anita Chandra,
Nicholas J. Cooper,
Sophie Davies,
Lisa Devlin,
E. Drewe,
David Edgar,
William Egner,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
Scott Hackett,
Rosie Hague,
G. Hayman,
A. Herwadkar,
A. Huissoon,
Stephen Jolles,
P. Kelleher,
D. Kumararatne,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
Elizabeth McDermott,
S. Murng,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Isabella Quinti,
Alex Richter,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewell,
Hans-Jรผrgen Stauss,
Moira J. Thomas,
S. Welch,
L. Willcocks,
Nigel Yeatman,
Patrick Yong
|
6 |
2017 |
6
๐
|
|
๐
|
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
351 auth.
J. R. Farmery,
Mike L. Smith,
A. Huissoon,
A. Furnell,
Adam J. Mead,
A. Levine,
Adnan Manzur,
A. Thrasher,
A. Greenhalgh,
A. Parker,
Alba Sanchis-Juan,
A. Richter,
A. Gardham,
A. Lawrie,
A. Sohal,
...
A. Creaser-Myers,
Amy J. Frary,
A. Greinacher,
Andreas Themistocleous,
A. Peacock,
Andrew Marshall,
A. Mumford,
Andrew S C Rice,
A. Webster,
A. Brady,
A. Koziell,
A. Manson,
Anita Chandra,
A. Hensiek,
A. H. I. Veld,
Anna Maw,
A. Kelly,
Anthony L Moore,
A. Vonk Noordegraaf,
A. Attwood,
A. Herwadkar,
A. Ghofrani,
A. Houweling,
B. Girerd,
B. Furie,
C. Treacy,
C. Millar,
C. Sewell,
Catherine Roughley,
Catherine Titterton,
C. Williamson,
C. Hadinnapola,
C. Deshpande,
C. Toh,
C. Bacchelli,
Chris Patch,
C. Geet,
C. Babbs,
Christine J. Bryson,
C. Penkett,
Christopher J. Rhodes,
C. Watt,
C. Bethune,
C. Booth,
C. Lentaigne,
Coleen McJannet,
C. Church,
Courtney E. French,
C. Samarghitean,
Csaba Halmagyi,
D. Gale,
D. Greene,
Daniel Hart,
D. Allsup,
David L. Bennett,
D. Edgar,
D. Kiely,
D. Gosal,
D. Perry,
D. Keeling,
D. Montani,
Deborah Shipley,
Deborah Whitehorn,
Debra Fletcher,
D. Krishnakumar,
D. Grozeva,
D. Kumararatne,
D. Thompson,
D. Josifova,
E. Maher,
E. Wong,
E. Murphy,
Eleanor F. Dewhurst,
E. Louka,
E. Rosser,
E. Chalmers,
Elizabeth Colby,
E. Drewe,
E. McDermott,
Elizabeth Louise Thomas,
E. Staples,
E. Clement,
E. Matthews,
E. Wakeling,
ร. Oksenhendler,
E. Turro,
E. Reid,
E. Wassmer,
F. L. Raymond,
Fengyuan Hu,
F. Kennedy,
F. Soubrier,
F. Flinter,
G. Kovรกcs,
Gary Polwarth,
Gautum Ambegaonkar,
G. Arno,
G. Hudson,
G. Woods,
G. Coghlan,
G. Hayman,
G. Arumugakani,
Gwen Schotte,
H. T. Cook,
H. Alachkar,
Hana Lango Allen,
H. Lango-Allen,
H. Stark,
Hans-Jรผrgen Stauss,
H. Schulze,
Harm J. Boggard,
H. Baxendale,
H. Dolling,
H. Firth,
Henning Gall,
Henry G. Watson,
H. Longhurst,
Hugh Markus,
Hugh Watkins,
Ilenia Simeoni,
I. Emmerson,
I. Roberts,
I. Quinti,
Ivy Wanjiku,
J. Gibbs,
James E. D. Thaventhiran,
J. Whitworth,
J. Hurst,
J. Collins,
J. Suntharalingam,
J. Payne,
J. Thachil,
Jennifer M. Martin,
Jennifer M. Martin,
J. Carmichael,
Jesmeen Maimaris,
J. Paterson,
J. Pepke-Zaba,
J. Heemskerk,
J. Gebhart,
John Davis,
J. Pasi,
J. Bradley,
J. Wharton,
J. Stephens,
J. Rankin,
Julie Anderson,
J. Vogt,
Julie von Ziegenweldt,
Karola Rehnstrom,
K. Megy,
K. Talks,
K. Peerlinck,
Katherine Yates,
K. Freson,
K. Stirrups,
K. Gomez,
Kenneth G. C. Smith,
K. Carss,
Kevin C. Rue-Albrecht,
K. Gilmour,
Larahmie Masati,
L. Scelsi,
L. Southgate,
Lavanya Ranganathan,
L. Ginsberg,
L. Devlin,
L. Willcocks,
L. Ormondroyd,
Lorena E. Lorenzo,
L. Harper,
L. Allen,
L. Daugherty,
M. Chitre,
M. Kurian,
M. Humbert,
M. Tischkowitz,
M. Bitner-Glindzicz,
M. Erwood,
M. Scully,
Marijke Veltman,
M. Caulfield,
Mark Layton,
Mark I. McCarthy,
Mark J. Ponsford,
M. Toshner,
M. Bleda,
Martin Wilkins,
M. Mathias,
M. Reilly,
M. Afzal,
Matthew Brown,
M. Rondina,
M. Stubbs,
M. Haimel,
M. Lees,
M. Laffan,
Michael Browning,
M. Gattens,
M. Richards,
M. Michaelides,
Michele P. Lambert,
M. Makris,
Minka De Vries,
M. Mahdi-Rogers,
M. Saleem,
Moira J. Thomas,
M. Holder,
M. Eyries,
Naomi Clements-Brod,
N. Canham,
N. Dormand,
N. Zuydam,
N. Kingston,
N. Ghali,
Nichola H Cooper,
N. Morrell,
Nigel Yeatman,
N. Roy,
O. Shamardina,
O. S. Alavijeh,
P. Gresele,
P. Nurden,
P. Chinnery,
P. Deegan,
P. Yong,
P. Yu-Wai-Man,
P. Corris,
P. Calleja,
P. Gissen,
P. Bolton-Maggs,
Paula Rayner-Matthews,
P. Ghataorhe,
Pavels Gordins,
Penelope J. S. Stein,
P. Collins,
P. Dixon,
P. Kelleher,
P. Ancliff,
Ping Yu,
R. Tait,
R. Linger,
R. Doffinger,
R. Machado,
R. Kazmi,
R. Sargur,
R. Favier,
R. Tan,
R. Liesner,
R. Antrobus,
R. Sandford,
R. Scott,
R. Trembath,
R. Horvath,
R. Hadden,
Rob V. MackenzieRoss,
R. Henderson,
R. MacLaren,
R. James,
Rohit R. Ghurye,
Rosa Dacosta,
R. Hague,
R. Mapeta,
R. Armstrong,
S. Noorani,
S. Murng,
S. Santra,
Salih Tuna,
Sally A. Johnson,
S. Chong,
S. Lear,
Sara Walker,
S. Goddard,
S. Mangles,
S. Westbury,
S. Mehta,
S. Hackett,
S. Nejentsev,
S. Moledina,
Shahnaz Bibi,
S. Meehan,
Shokri Othman,
S. Revel-Vilk,
S. Holden,
S. McGowan,
Simon Staines,
S. Savic,
Siobhan O. Burns,
S. Grigoriadou,
S. Papadia,
Sofie Ashford,
Sol Schulman,
Sonia Ali,
Soo-Mi Park,
Sophie Davies,
S. Stock,
Souad Ali,
Sri V. V. Deevi,
S. Grรคf,
S. Ghio,
S. Wort,
S. Jolles,
Steve Austin,
S. Welch,
Stuart Meacham,
Stuart Rankin,
Suellen Walker,
S. Seneviratne,
S. Holder,
S. Sivapalaratnam,
S. Richardson,
Taco W. Kuijpers,
Taco W. Kuijpers,
T. Bariana,
T. Bakchoul,
T. Everington,
T. Renton,
Tim Young,
T. Aitman,
Timothy Q. Warner,
Tom A Vale,
Tracey Hammerton,
Val Pollock,
Vera Matser,
V. Cookson,
V. Clowes,
W. Qasim,
Wei Wei,
W. Erber,
W. Ouwehand,
W. Astle,
W. Egner,
Wojciech Turek,
Y. Henskens,
Yvonne Tan,
A. Lynch
|
5 |
2017 |
5
๐
|
