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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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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
37 auth.
K. Andrews,
D. Ascher,
Douglas E. V. Pires,
D. Barnes,
L. Vialard,
R. Casey,
N. Bradshaw,
J. Adlard,
S. Aylwin,
P. Brennan,
C. Brewer,
T. Cole,
J. Cook,
R. Davidson,
A. Donaldson,
...
A. Fryer,
L. Greenhalgh,
S. Hodgson,
R. Irving,
F. Lalloo,
M. McConachie,
V. Mcconnell,
P. Morrison,
V. Murday,
Soo-Mi Park,
H. Simpson,
K. Snape,
S. Stewart,
S. Tomkins,
Y. Wallis,
L. Izatt,
D. Goudie,
R. Lindsay,
C. Perry,
E. Woodward,
A. Antoniou,
E. Maher
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7 |
2018 |
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
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7 |
2018 |
7
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|
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CT Characteristics of Pheochromocytoma: Relevance for the Evaluation of Adrenal Incidentaloma
35 auth.
L. Canu,
J. A. V. Van Hemert,
M. Kerstens,
R. Hartman,
A. Khanna,
I. Kraljević,
D. Kaštelan,
C. Badiu,
U. Ambroziak,
A. Tabarin,
M. Haissaguerre,
E. Buitenwerf,
A. Visser,
M. Mannelli,
W. Arlt,
...
V. Chortis,
I. Bourdeau,
Nadia Gagnon,
M. Buchy,
F. Borson‐Chazot,
T. Deutschbein,
M. Fassnacht,
A. Hubalewska-Dydejczyk,
Marcin Motyka,
Ewelina Rzepka,
R. Casey,
B. Challis,
M. Quinkler,
L. Vroonen,
A. Spyroglou,
F. Beuschlein,
C. Lamas,
W. Young,
I. Bancos,
H. Timmers
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6 |
2018 |
6
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|
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
43 auth.
J. Whitworth,
Philip S. Smith,
Jose-Ezequiel Martin,
Hannah D. West,
A. Luchetti,
Fay Rodger,
G. Clark,
K. Carss,
J. Stephens,
K. Stirrups,
C. Penkett,
R. Mapeta,
Sofie Ashford,
K. Megy,
H. Shakeel,
...
Munaza Ahmed,
J. Adlard,
J. Barwell,
C. Brewer,
R. Casey,
R. Armstrong,
T. Cole,
D. G. Evans,
F. Fostira,
L. Greenhalgh,
H. Hanson,
A. Henderson,
Jonathan Hoffman,
L. Izatt,
Ajith Kumar,
A. Kwong,
F. Lalloo,
K. Ong,
J. Paterson,
Soo-Mi Park,
R. Chen-Shtoyerman,
C. Searle,
L. Side,
A. Skytte,
K. Snape,
E. Woodward,
M. Tischkowitz,
E. Maher
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5 |
2018 |
5
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|
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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity
21 auth.
R. Casey,
D. Ascher,
Eleanor Rattenberry,
L. Izatt,
K. Andrews,
H. Simpson,
Benjamen Challis,
Soo-Mi Park,
V. Bulusu,
F. Lalloo,
...
Douglas E. V. Pires,
Hannah D. West,
G. Clark,
Philip S. Smith,
J. Whitworth,
T. Papathomas,
P. Taniere,
Rosina Savisaar,
L. Hurst,
E. Woodward,
E. Maher
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5 |
2017 |
5
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|
🐢
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A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma
12 auth.
J. MacFarlane,
Keat Cheah Seong,
Chad Bisamber,
B. Madhu,
K. Allinson,
A. Marker,
...
A. Warren,
Soo-Mi Park,
O. Giger,
B. Challis,
E. Maher,
R. Casey
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5 |
2020 |
5
🐢
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|
🦁
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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
23 auth.
R. Casey,
A. Warren,
Jose-Ezequiel Martin,
B. Challis,
Eleanor Rattenberry,
J. Whitworth,
K. Andrews,
Thomas Roberts,
G. Clark,
Hannah D. West,
...
Philip S. Smith,
F. Docquier,
Fay Rodger,
Vicki Murray,
H. Simpson,
Y. Wallis,
O. Giger,
Maxine G. B. Tran,
S. Tomkins,
G. Stewart,
Soo-Mi Park,
E. Woodward,
E. Maher
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5 |
2017 |
5
🦁
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|
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Hyperpolarized 13C-Pyruvate Metabolism as a Surrogate for Tumor Grade and Poor Outcome in Renal Cell Carcinoma—A Proof of Principle Study
33 auth.
S. Ursprung,
Ramona Woitek,
M. McLean,
A. Priest,
M. Crispin-Ortuzar,
Cara R Brodie,
A. Gill,
M. Gehrung,
L. Beer,
Antony C. P. Riddick,
Johanna Field-Rayner,
J. Grist,
S. Deen,
F. Riemer,
J. Kaggie,
...
F. Zaccagna,
João A. G. Duarte,
M. Locke,
Amy Frary,
T. Aho,
J. Armitage,
R. Casey,
Iosif A. Mendichovszky,
S. Welsh,
T. Barrett,
M. Graves,
T. Eisen,
T. Mitchell,
A. Warren,
K. Brindle,
E. Sala,
G. Stewart,
F. Gallagher
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5 |
2022 |
5
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|
🐜
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Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.
43 auth.
D. Taïeb,
G. Wanna,
Maleeha Ahmad,
Charlotte Lussey-Lepoutre,
N. Perrier,
S. Nölting,
L. Amar,
H. Timmers,
Z. Schwam,
A. Estrera,
Michael Lim,
E. Pollom,
Lucas Vitzthum,
I. Bourdeau,
R. Casey,
...
F. Castinetti,
R. Clifton-Bligh,
E. Corssmit,
R. D. de Krijger,
Jaydira Del Rivero,
G. Eisenhofer,
H. Ghayee,
A. Gimenez-Roqueplo,
A. Grossman,
A. Imperiale,
J. C. Jansen,
Abhishek Jha,
M. Kerstens,
H. Kunst,
James K. Liu,
E. Maher,
D. Marchioni,
L. Mercado-Asis,
O. Mete,
M. Naruse,
N. Nilubol,
N. Pandit-Taskar,
F. Sebag,
A. Tanabe,
J. Widimský,
Leah Meuter,
J. Lenders,
K. Pacak
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5 |
2023 |
5
🐜
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