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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. Gräf,
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. Estiú,
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 Castelló,
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
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8 |
2020 |
8
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Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
28 auth.
A. Arndt,
S. Schafer,
J. Drenckhahn,
M. Sabeh,
E. Plovie,
A. Caliebe,
E. Klopocki,
Gabriel Musso,
A. Werdich,
H. Kalwa,
M. Heinig,
M. Heinig,
R. Padera,
K. Wassilew,
Julia Bluhm,
...
Christine Harnack,
J. Martitz,
P. Barton,
M. Greutmann,
F. Berger,
N. Hubner,
R. Siebert,
H. Kramer,
S. Cook,
S. Cook,
C. Macrae,
S. Klaassen,
S. Klaassen
|
7 |
2013 |
7
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|
🐜
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Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
28 auth.
A. Arndt,
S. Schafer,
J. Drenckhahn,
M. Sabeh,
E. Plovie,
A. Caliebe,
E. Klopocki,
Gabriel Musso,
A. Werdich,
H. Kalwa,
M. Heinig,
M. Heinig,
R. Padera,
K. Wassilew,
Julia Bluhm,
...
Christine Harnack,
J. Martitz,
P. Barton,
M. Greutmann,
F. Berger,
N. Hubner,
R. Siebert,
H. Kramer,
S. Cook,
S. Cook,
C. Macrae,
S. Klaassen,
S. Klaassen
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7 |
2013 |
7
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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. Jørgensen,
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. Estiú,
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 ‘t 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 Castelló,
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,
É. 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-Jóźwiak,
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
🐜
|
|
🐢
|
Phenotype and Clinical Outcomes of Titin Cardiomyopathy
22 auth.
U. Tayal,
S. Newsome,
R. Buchan,
N. Whiffin,
B. Halliday,
A. Lota,
Angharad M. Roberts,
A. Baksi,
I. Voges,
W. Midwinter,
...
A. Wilk,
R. Govind,
R. Walsh,
P. Daubeney,
J. Jarman,
R. Baruah,
M. Frenneaux,
P. Barton,
D. Pennell,
J. Ware,
S. Prasad,
S. Cook
|
6 |
2017 |
6
🐢
|
|
🐜
|
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
23 auth.
K. McGurk,
Xiaolei Zhang,
P. Theotokis,
K. Thomson,
A. Harper,
R. Buchan,
Erica Mazaika,
E. Ormondroyd,
William T. Wright,
D. Macaya,
...
C. Pua,
B. Funke,
D. MacArthur,
S. Prasad,
S. Cook,
M. Allouba,
Yasmine Aguib,
Magdi H. Yacoub,
D. O’Regan,
P. Barton,
H. Watkins,
L. Bottolo,
J. Ware
|
4 |
2023 |
4
🐜
|
|
🐜
|
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
16 auth.
N. Whiffin,
Angharad M. Roberts,
E. Minikel,
Zachary Zappala,
R. Walsh,
A. O’Donnell-Luria,
K. Karczewski,
S. Harrison,
K. Thomson,
H. Sage,
...
Alexander Y. Ing,
P. Barton,
B. Funke,
S. Cook,
D. MacArthur,
J. Ware
|
3 |
2019 |
3
🐜
|
|
🐜
|
Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings
73 auth.
S. Zheng,
S. Jurgens,
K. McGurk,
Xiao Xu,
C. Grace,
P. Theotokis,
R. Buchan,
C. Francis,
A. Marvao,
Lara Curran,
Wenjia Bai,
Chee Jian,
Pua,
Tang Hak,
Chiaw,
...
Paloma Jordà,
M. Slegtenhorst,
J. M. Verhagen,
A. Harper,
E. Ormondroyd,
Calvin W L Chin,
Genomics England,
Research Consortium,
Hcm Gwas,
A. Pantazis,
J. Baksi,
B. Halliday,
Paul M. Matthews,
Yigal M. Pinto,
R. Walsh,
A. Amin,
A. Wilde,
S. Cook,
S. Prasad,
P. Barton,
D. O’Regan,
R. Lumbers,
A. Goel,
R. Tadros,
M. Michels,
H. Watkins,
C. Bezzina,
J. Ware,
Paloma Jordà,
K. Thomson,
Dominique M West,
I. Theotokis,
F. Mazzarotto,
B. Boschi,
E. Pelo,
Michael Lee,
M. Noseda,
A. Varnava,
A. Vermeer,
N. Roslin,
L. Strug,
E. Salvi,
C. Lanzani,
G. Giraldeau,
Julia Cadrin-Tourigny,
P. L'allier,
P. Garceau,
M. Talajic,
H. Rakowski,
P. O'Regan,
R. D. Boer,
I. Christiaans,
C. Kramer,
Carolyn Y. Ho,
Stefan Neubauer Hcmr,
J. Tardif,
I. Olivotto,
A. Adler
|
3 |
2023 |
3
🐜
|
|
🐢
|
Titin truncating variants affect heart function in disease cohorts and the general population
41 auth.
S. Schafer,
A. Marvao,
E. Adami,
L. Fiedler,
B. Ng,
Ester,
Khin,
O. Rackham,
S. V. Heesch,
C. Pua,
Miao Kui,
R. Walsh,
U. Tayal,
S. Prasad,
T. Dawes,
...
Nicole S. J. Ko,
D. Sim,
L. Laura,
Chan,
C. Chin,
F. Mazzarotto,
P. Barton,
Franziska Kreuchwig,
Dominique,
P. Kleijn,
Teresa Totman,
C. Biffi,
Nicole G. Z. Tee,
D. Rueckert,
Valentin Schneider,
Allison B. Faber,
Vera Regitz‐Zagrosek,
J. Seidman,
C. Seidman,
W. Linke,
J. Kovalik,
D. O’Regan,
J. Ware,
Norbert,
Hubner,
S. Cook
|
3 |
2016 |
3
🐢
|
|
🐢
|
Titin truncating variants affect heart function in disease cohorts and the general population
41 auth.
S. Schafer,
A. Marvao,
E. Adami,
L. Fiedler,
B. Ng,
Ester,
Khin,
O. Rackham,
S. V. Heesch,
C. Pua,
Miao Kui,
R. Walsh,
U. Tayal,
S. Prasad,
T. Dawes,
...
Nicole S. J. Ko,
D. Sim,
L. Laura,
Chan,
C. Chin,
F. Mazzarotto,
P. Barton,
Franziska Kreuchwig,
Dominique,
P. Kleijn,
Teresa Totman,
C. Biffi,
Nicole G. Z. Tee,
D. Rueckert,
Valentin Schneider,
Allison B. Faber,
Vera Regitz‐Zagrosek,
J. Seidman,
C. Seidman,
W. Linke,
J. Kovalik,
D. O’Regan,
J. Ware,
Norbert,
Hubner,
S. Cook
|
2 |
2016 |
2
🐢
|
