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|
Prevalence and architecture of de novo mutations in developmental disorders
302 auth.
J. McRae,
Stephen Clayton,
Tomas W. Fitzgerald,
J. Kaplanis,
E. Prigmore,
D. Rajan,
A. Sifrim,
Stuart Aitken,
N. Akawi,
M. Alvi,
K. Ambridge,
D. Barrett,
T. Bayzetinova,
P. Jones,
W. Jones,
...
D. King,
N. Krishnappa,
L. E. Mason,
T. Singh,
A. Tivey,
Munaza Ahmed,
U. Anjum,
H. Archer,
R. Armstrong,
J. Awada,
M. Balasubramanian,
S. Banka,
D. Baralle,
A. Barnicoat,
Paul Batstone,
D. Baty,
C. Bennett,
J. Berg,
B. Bernhard,
A. P. Bevan,
M. Bitner-Glindzicz,
Edward Blair,
Moira Blyth,
D. Bohanna,
L. Bourdon,
D. Bourn,
L. Bradley,
A. Brady,
Simon Brent,
C. Brewer,
K. Brunstrom,
D. Bunyan,
J. Burn,
N. Canham,
B. Castle,
K. Chandler,
Elena Chatzimichali,
D. Cilliers,
Angus Clarke,
S. Clasper,
J. Clayton-Smith,
V. Clowes,
A. Coates,
Trevor Cole,
Irina Colgiu,
Amanda Collins,
M. Collinson,
F. Connell,
N. Cooper,
H. Cox,
L. Cresswell,
G. Cross,
Yanick J. Crow,
Mariella DโAlessandro,
T. Dabir,
R. Davidson,
Sally J Davies,
Dylan de Vries,
J. Dean,
C. Deshpande,
G. Devlin,
A. Dixit,
A. Dobbie,
A. Donaldson,
D. Donnai,
D. Donnelly,
C. Donnelly,
Angela Douglas,
S. Douzgou,
A. Duncan,
J. Eason,
S. Ellard,
Ian Ellis,
F. Elmslie,
K. Evans,
S. Everest,
T. Fendick,
R. Fisher,
F. Flinter,
N. Foulds,
A. Fry,
A. Fryer,
C. Gardiner,
L. Gaunt,
N. Ghali,
Richard J. Gibbons,
H. Gill,
J. Goodship,
D. Goudie,
Emma V. Gray,
A. Green,
P. Greene,
L. Greenhalgh,
S. Gribble,
R. Harrison,
L. Harrison,
V. Harrison,
R. Hawkins,
Liu He,
S. Hellens,
A. Henderson,
S. Hewitt,
Lucy Hildyard,
E. Hobson,
S. Holden,
M. Holder,
S. Holder,
G. Hollingsworth,
T. Homfray,
M. Humphreys,
J. Hurst,
Ben Hutton,
S. Ingram,
M. Irving,
L. Islam,
Andrew Jackson,
J. Jarvis,
L. Jenkins,
Diana S. Johnson,
Elizabeth Jones,
D. Josifova,
S. Joss,
B. Kaemba,
S. Kazembe,
Rosemary Kelsell,
B. Kerr,
Helen Kingston,
U. Kini,
E. Kinning,
G. Kirby,
C. Kirk,
E. Kivuva,
A. Kraus,
Dhavendra Kumar,
V. K. A. Kumar,
K. Lachlan,
W. Lam,
A. Lampe,
C. Langman,
M. Lees,
D. Lim,
C. Longman,
G. Lowther,
S. Lynch,
A. Magee,
E. Maher,
Alison M. Male,
S. Mansour,
K. Marks,
K. Martin,
U. Maye,
E. McCann,
V. Mcconnell,
M. McEntagart,
Ruth McGowan,
Kirsten McKay,
S. McKee,
D. McMullan,
S. McNerlan,
C. Mcwilliam,
S. Mehta,
K. Metcalfe,
Anna Middleton,
Z. Miedzybrodzka,
E. Miles,
S. Mohammed,
T. Montgomery,
D. Moore,
S. Morgan,
J. Morton,
H. Mugalaasi,
V. Murday,
Helen R Murphy,
S. Naik,
Andrea M. Nemeth,
L. Nevitt,
R. Newbury-Ecob,
Andrew Norman,
R. OโShea,
C. Ogilvie,
K. Ong,
Soo-Mi Park,
M. Parker,
C. Patel,
J. Paterson,
Stewart Payne,
D. Perrett,
J. Phipps,
D. Pilz,
M. Pollard,
C. Pottinger,
Joanna Poulton,
N. Pratt,
K. Prescott,
S. Price,
A. Pridham,
A. Procter,
H. Purnell,
O. Quarrell,
N. Ragge,
R. Rahbari,
Joshua C Randall,
Julia Rankin,
L. Raymond,
D. Rice,
L. Robert,
E. Roberts,
Jonathan Roberts,
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G. Roberts,
A. Ross,
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A. Saggar,
Shalaka Samant,
Julian Sampson,
R. Sandford,
A. Sarkar,
Susann Schweiger,
R. Scott,
I. Scurr,
A. Selby,
A. Seller,
C. Sequeira,
N. Shannon,
S. Sharif,
C. Shaw-Smith,
E. Shearing,
Debbie Shears,
Eamonn Sheridan,
I. Simonic,
R. Singzon,
Z. Skitt,
Audrey Smith,
Kath Smith,
S. Smithson,
L. Sneddon,
M. Splitt,
M. Squires,
Fiona J Stewart,
Helen Stewart,
Volker Straub,
M. Suri,
V. Sutton,
G. Swaminathan,
E. Sweeney,
K. Tatton-Brown,
C. Taylor,
R. Taylor,
M. Tein,
I. Temple,
J. Thomson,
M. Tischkowitz,
S. Tomkins,
A. Torokwa,
B. Treacy,
C. Turner,
P. Turnpenny,
C. Tysoe,
A. Vandersteen,
V. Varghese,
P. Vasudevan,
Parthiban Vijayarangakannan,
J. Vogt,
E. Wakeling,
Sarah Wallwark,
J. Waters,
A. Weber,
D. Wellesley,
M. Whiteford,
S. Widaa,
S. Wilcox,
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N. Williams,
L. Wilson,
G. Woods,
C. Wragg,
Michael Wright,
Laura Yates,
Michael Yau,
C. Nellรฅker,
M. Parker,
H. Firth,
C. Wright,
D. FitzPatrick,
J. Barrett,
M. Hurles
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10 |
2017 |
10 ๐
|
๐
|
Large-scale discovery of novel genetic causes of developmental disorders
265 auth.
Tomas W. Fitzgerald,
S. Gerety,
W. Jones,
M. Kogelenberg,
D. King,
J. McRae,
K.I. Morley,
V. Parthiban,
S. Al-Turki,
K. Ambridge,
D. Barrett,
T. Bayzetinova,
Stephen Clayton,
Eve L. Coomber,
S. Gribble,
...
Peter B. Jones,
N. Krishnappa,
L. E. Mason,
Anna Middleton,
Ray Miller,
E. Prigmore,
D. Rajan,
A. Sifrim,
A. Tivey,
M. Ahmed,
N. Akawi,
Robert Andrews,
U. Anjum,
H. Archer,
R. Armstrong,
M. Balasubramanian,
Rangan Banerjee,
D. Baralle,
P. Batstone,
D. Baty,
C. Bennett,
J. Berg,
B. Bernhard,
A. P. Bevan,
Edward Blair,
Moira Blyth,
D. Bohanna,
L. Bourdon,
David Bourn,
Angela F. Brady,
E. Bragin,
C. Brewer,
L. Brueton,
K. Brunstrom,
S. Bumpstead,
D. Bunyan,
J. Burn,
John Burton,
N. Canham,
B. Castle,
K. Chandler,
S. Clasper,
Jill Clayton-Smith,
Trevor Cole,
Allan J. Collins,
M. Collinson,
F. Connell,
Nicholas J. Cooper,
H. Cox,
L. Cresswell,
G. Cross,
Y. Crow,
M. D'alessandro,
T. Dabir,
R. Davidson,
Stuart J. Davies,
J. Dean,
C. Deshpande,
G. Devlin,
A. Dixit,
A. Dominiczak,
C. Donnelly,
D. Donnelly,
Angela Douglas,
A. Duncan,
J. Eason,
S. Edkins,
S. Ellard,
Peter R. Ellis,
F. Elmslie,
Kathryn L. Evans,
S. Everest,
T. Fendick,
R. Fisher,
F. Flinter,
N. Foulds,
Alan Fryer,
B. Fu,
C. Gardiner,
L. Gaunt,
N. Ghali,
Richard J. Gibbons,
S. L. G. Pereira,
J. Goodship,
D. Goudie,
Emma V. Gray,
P. Greene,
L. Greenhalgh,
L. Harrison,
R. Hawkins,
S. Hellens,
A. Henderson,
E. Hobson,
S. Holden,
S. Holder,
G. Hollingsworth,
T. Homfray,
Mervyn Humphreys,
J. Hurst,
S. Ingram,
M. Irving,
J. Jarvis,
L. Jenkins,
Diana S. Johnson,
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Elizabeth Jones,
D. Josifova,
S. Joss,
B. Kaemba,
S. Kazembe,
Bronwyn Kerr,
U. Kini,
E. Kinning,
G. Kirby,
C. Kirk,
E. Kivuva,
A. Kraus,
Dinesh Kumar,
K. Lachlan,
W. Lam,
AK Lampe,
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S. Samant,
R. Sandford,
A. Sarkar,
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K. Tatton-Brown,
C. Taylor,
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M. Tein,
I. Temple,
J. Thomson,
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A. Torokwa,
B. Treacy,
C. Turner,
P. Turnpenny,
C. Tysoe,
A. Vandersteen,
P. Vasudevan,
J. Vogt,
E. Wakeling,
D. Walker,
J. Waters,
A. Weber,
D. Wellesley,
M. Whiteford,
S. Widaa,
Stephen A. Wilcox,
Desmond E. Williams,
Nicholas Williams,
G. Woods,
C. Wragg,
Michael Wright,
Fengtang Yang,
M. Yau,
Nigel P. Carter,
Michael Parker,
H. Firth,
David Fitzpatrick,
C. Wright,
J. Barrett,
M. Hurles
|
9 |
2014 |
9 ๐
|
๐
|
Effect of remote ischaemic conditioning on clinical outcomes in patients with acute myocardial infarction (CONDI-2/ERIC-PPCI): a single-blind randomised controlled trial
584 auth.
D. Hausenloy,
R. Kharbanda,
U. K. Mรธller,
M. Ramlall,
J. Aarรธe,
R. Butler,
H. Bulluck,
T. Clayton,
A. Dana,
M. Dodd,
T. Engstrรธm,
R. Evans,
J. Lassen,
E. Christensen,
J. M. Garcรญa-Ruรญz,
...
Diana A Gorog,
J. Hjort,
Richard F Houghton,
B. Ibรกรฑez,
R. Knight,
F. Lippert,
J. Lรธnborg,
M. Maeng,
D. Milasinovic,
R. More,
J. Nicholas,
L. Jensen,
Alexander Perkins,
N. Radovanovic,
R. Rakhit,
J. Ravkilde,
A. Ryding,
M. Schmidt,
I. Riddervold,
H. Sรธrensen,
G. Stankoviฤ,
Madhusudhan C. Varma,
I. Webb,
C. Terkelsen,
J. Greenwood,
D. Yellon,
H. Bรธtker,
A. Junker,
A. Kaltoft,
M. Madsen,
E. Christiansen,
L. Jakobsen,
S. Carstensen,
S. Kristensen,
T. Thim,
K. M. Pedersen,
Mette Tidemand Korsgaard,
A. Iversen,
E. Jรธrgensen,
F. Joshi,
F. Pedersen,
H. Tilsted,
K. Alzuhairi,
K. Saunamรคki,
L. Holmvang,
Ole Ahlehof,
R. Sรธrensen,
S. Helqvist,
Bettina Lรธjmand Mark,
A. Villadsen,
B. Raungaard,
L. Thuesen,
M. K. Christiansen,
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Daniel Wittrock,
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John Kempel,
H. Kaus,
Dennis Erntgaard,
D. M. Pedersen,
M. Giebner,
T. Hansen,
M. Radosavljevic-Radovanovic,
M. Prodanovic,
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J. Rozado,
J. Rondรกn,
P. Avanzas,
Raquel del Valle,
R. Padrรณn,
A. Garcรญa-Castro,
Amalia Arango,
Ana B. Medina-Cameรกn,
Ana I. Fente,
Ana Muriel-Velasco,
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Cรฉsar L. Roza,
Cรฉsar M. Martรญnez-Fernรกndez,
Covadonga Buelga-Dรญaz,
David Fernรกndez-Gonzalo,
Elena Fernรกndez,
E. Dรญaz-Gonzรกlez,
E. Martinez-Gonzรกlez,
F. Iglesias-Llaca,
Fernando M. Viribay,
Francisco J. Fernรกndez-Mallo,
Francisco J. Hermosa,
G. Martรญnez-Bastida,
Javier Goitia-Martรญn,
J. L. Vega-Fernรกndez,
J. Tresguerres,
Juan A. Rodil-Dรญaz,
Lara Villar-Fernรกndez,
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Luis Abella-Ovalle,
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Marcos Fernรกndez-Carral Fernรกndez-Carral,
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M. C. Pelaez,
M. D. Fuentes,
M. Garcรญa-Alonso,
M. Villanueva,
Marรญa S. Vinagrero,
Marรญa Vรกzquez-Suรกrez,
Marta Martรญnez-Valle,
Marta Nonide,
Mรณnica Pozo-Lรณpez,
Pablo Bernardo-Alba,
Pablo Galvรกn-Nรบรฑez,
Polรกcido J. Martรญnez-Pรฉrez,
Rafael Castro,
Raquel Suรกrez-Coto,
Raquel Suรกrez-Noriega,
Rocรญo Guinea,
Rosa B. Quintana,
S. de Cima,
Segundo A. Hedrera,
S. Laca,
Susana Llorente-รlvarez,
S. Pascual,
Teodorna Cimas,
A. Mathur,
Eleanor McFarlane-Henry,
G. Leonard,
J. Veerapen,
M. Westwood,
M. Colicchia,
Mary Prossora,
M. Andiapen,
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J. Din,
J. McLeod,
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K. Longman,
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N. Lakeman,
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R. Kanji,
A. Ryding,
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D. Moore,
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J. Staines,
S. Nicholson,
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R. Heppell,
S. Turney,
Victoria Horner,
N. Schumacher,
A. Moon,
P. Mota,
Joshua OโDonnell,
Abeesh Sadasiva Panicker,
Anntoniette Musa,
L. Tapp,
S. Krishnamoorthy,
Valerie Ansell,
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Samantha Hyndman,
P. Banerjee,
M. Been,
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R. Elliott,
Aboo Foundun,
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D. K. Lee,
Dr Mohamed Elshiekh,
G. Pulikal,
Gurbir Bhatre,
J. Douglas,
Lee Kaeng,
M. Pitt,
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D. Barker,
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N. Chant,
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Z. Deen,
C. Relph,
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2019 |
7 ๐
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
319 auth.
Vรญctor Faundes,
W. Newman,
L. Bernardini,
N. Canham,
J. Clayton-Smith,
B. Dallapiccola,
S. Davies,
M. Demos,
A. Goldman,
H. Gill,
Rachel H Horton,
B. Kerr,
Dhavendra Kumar,
A. Lehman,
S. McKee,
...
J. Morton,
M. Parker,
J. Rankin,
Lisa K. Robertson,
I. Temple,
S. Banka,
S. Adam,
C. du Souich,
Alison M. Elliott,
J. Mwenifumbo,
T. Nelson,
C. V. van Karnebeek,
J. Friedman,
J. McRae,
S. Clayton,
Tomas W. Fitzgerald,
J. Kaplanis,
E. Prigmore,
D. Rajan,
A. Sifrim,
Stuart Aitken,
N. Akawi,
M. Alvi,
K. Ambridge,
D. Barrett,
T. Bayzetinova,
P. Jones,
W. Jones,
D. King,
N. Krishnappa,
L. E. Mason,
T. Singh,
A. Tivey,
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U. Anjum,
H. Archer,
R. Armstrong,
J. Awada,
M. Balasubramanian,
D. Baralle,
A. Barnicoat,
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A. Brady,
Simon Brent,
C. Brewer,
K. Brunstrom,
D. Bunyan,
J. Burn,
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K. Chandler,
Elena Chatzimichali,
D. Cilliers,
Angus Clarke,
S. Clasper,
V. Clowes,
A. Coates,
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Irina Colgiu,
A. Collins,
M. Collinson,
F. Connell,
N. Cooper,
H. Cox,
L. Cresswell,
G. Cross,
Y. Crow,
Mariella DโAlessandro,
T. Dabir,
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I. Ellis,
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K. Evans,
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2018 |
7 ๐
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
70 auth.
E. Meyer,
K. Carss,
J. Rankin,
John M E Nichols,
D. Grozeva,
Agnel P Joseph,
N. Mencacci,
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J. Ng,
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A. Ngoh,
H. Ben-Pazi,
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D. Arkadir,
A. Barnicoat,
...
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S. Bhate,
Amber Boys,
N. Darรญn,
N. Foulds,
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Z. Israel,
M. Kaminska,
P. Limousin,
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J. Nicolai,
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E. Kamsteeg,
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M. Kurian
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7 |
2016 |
7 ๐
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EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications.
16 auth.
C. Schwab,
S. Ryan,
L. Chilton,
Alannah Elliott,
J. Murray,
Stacey Richardson,
C. Wragg,
J. Moppett,
M. Cummins,
O. Tunstall,
...
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N. Goulden,
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A. Moorman,
C. Harrison
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6 |
2016 |
6 ๐
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EGFR and EGFRvIII analysis in glioblastoma as therapeutic biomarkers
10 auth.
Claire L Faulkner,
Abigail Palmer,
H. Williams,
C. Wragg,
H. R. Haynes,
P. White,
...
R. deSouza,
Maggie Williams,
K. Hopkins,
K. Kurian
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5 |
2015 |
5 ๐
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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
301 auth.
J. McRae,
Stephen Clayton,
Tomas W. Fitzgerald,
J. Kaplanis,
E. Prigmore,
D. Rajan,
A. Sifrim,
Stuart Aitken,
N. Akawi,
M. Alvi,
K. Ambridge,
D. Barrett,
T. Bayzetinova,
P. Jones,
W. Jones,
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D. King,
N. Krishnappa,
L. E. Mason,
T. Singh,
A. Tivey,
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R. Armstrong,
J. Awada,
M. Balasubramanian,
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D. Baralle,
Angela Barnicoat,
Paul Batstone,
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B. Bernhard,
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M. Bitner-Glindzicz,
Edward Blair,
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J. Burn,
N. Canham,
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Angus Clarke,
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Dylan de Vries,
J. Dean,
C. Deshpande,
G. Devlin,
A. Dixit,
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D. Donnai,
D. Donnelly,
C. Donnelly,
Angela Douglas,
Sofia Douzgou,
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J. Eason,
Sian Ellard,
Ian Ellis,
F. Elmslie,
K. Evans,
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T. Fendick,
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N. Foulds,
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C. Gardiner,
L. Gaunt,
N. Ghali,
Richard J. Gibbons,
H. Gill,
J. Goodship,
D. Goudie,
Emma V. Gray,
Andrew Green,
P. Greene,
L. Greenhalgh,
S. Gribble,
L. Harrison,
V. Harrison,
R. Hawkins,
Liu He,
S. Hellens,
Alex Henderson,
S. Hewitt,
Lucy Hildyard,
E. Hobson,
S. Holden,
M. Holder,
S. Holder,
G. Hollingsworth,
T. Homfray,
Mervyn Humphreys,
Jane A Hurst,
Ben Hutton,
S. Ingram,
M. Irving,
L. Islam,
Andrew Jackson,
J. Jarvis,
L. Jenkins,
Diana S. Johnson,
Elizabeth Jones,
D. Josifova,
S. Joss,
B. Kaemba,
S. Kazembe,
Rosemary Kelsell,
Bronwyn Kerr,
Helen Kingston,
U. Kini,
E. Kinning,
G. Kirby,
C. Kirk,
E. Kivuva,
A. Kraus,
Dhavendra Kumar,
V. Kumar,
K. Lachlan,
Wayne Lam,
A. Lampe,
C. Langman,
Melissa Lees,
D. Lim,
Cheryl Longman,
G. Lowther,
S. Lynch,
A. Magee,
E. Maher,
Alison M. Male,
Sahar Mansour,
K. Marks,
K. Martin,
U. Maye,
E. McCann,
Vivienne McConnell,
MERIEL E Mcentagart,
Ruth McGowan,
Kirsten McKay,
S. McKee,
D. McMullan,
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C. Mcwilliam,
S. Mehta,
K. Metcalfe,
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P. Vasudevan,
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J. Vogt,
E. Wakeling,
Sarah Wallwark,
J. Waters,
A. Weber,
D. Wellesley,
Margo Whiteford,
S. Widaa,
S. Wilcox,
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Denise K. Williams,
Nicola Williams,
Louise C. Wilson,
G. Woods,
C. Wragg,
Michael Wright,
Laura Yates,
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C. Nellรฅker,
M. Parker,
H. Firth,
C. Wright,
David R Fitzpatrick,
Jeffrey C. Barrett,
M. Hurles
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5 |
2016 |
5 ๐
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|
BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum
14 auth.
Claire L Faulkner,
H. Ellis,
Abigail Shaw,
C. Penman,
Abigail Palmer,
C. Wragg,
M. Greenslade,
H. R. Haynes,
H. Williams,
S. Lowis,
...
P. White,
Maggie Williams,
D. Capper,
K. Kurian
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5 |
2015 |
5 ๐
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Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
9 auth.
Hana Lango Allen,
R. Caswell,
Weijia Xie,
Xiao Xu,
C. Wragg,
P. Turnpenny,
...
C. Turner,
M. Weedon,
S. Ellard
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5 |
2014 |
5 ๐
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Prognostic value of test(s) for O6
-methylguanine-DNA methyltransferase (MGMT) promoter methylation for predicting overall survival in people with glioblastoma treated with temozolomide
11 auth.
A. McAleenan,
Amy Howell,
Ashleigh Kernohan,
Claire L Faulkner,
S. Dawson,
C. Wragg,
...
S. Jefferies,
S. Brandner,
L. Vale,
J. Higgins,
K. Kurian
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4 |
2019 |
4 ๐
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