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🐜
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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 D’Alessandro,
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. O’Shea,
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,
P. Roberts,
G. Roberts,
A. Ross,
E. Rosser,
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,
Emily Wilkinson,
Denise K. Williams,
N. Williams,
L. Wilson,
G. Woods,
C. Wragg,
Michael Wright,
Laura Yates,
Michael Yau,
C. Nellåker,
M. Parker,
H. Firth,
C. Wright,
D. FitzPatrick,
J. Barrett,
M. Hurles
|
10 |
2017 |
10
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|
|
🐜
|
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,
D. Jones,
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,
Craig B. Langman,
M. Lees,
D. Lim,
G. Lowther,
S. Lynch,
A. Magee,
E. Maher,
Sahar Mansour,
K. Marks,
Kevin J. Martin,
U. Maye,
E. McCann,
V. Mcconnell,
M. McEntagart,
R. McGowan,
K. McKay,
S. McKee,
D. McMullan,
S. Mcnerlan,
S. Mehta,
K. Metcalfe,
E. Miles,
S. Mohammed,
T. Montgomery,
D. Moore,
S. Morgan,
Andrew D. Morris,
J. Morton,
H. Mugalaasi,
V. Murday,
L. Nevitt,
R. Newbury-Ecob,
A. Norman,
R. O’Shea,
C. Ogilvie,
Soo-Mi Park,
MJ Parker,
Chirag J. Patel,
J. Paterson,
S. Payne,
J. Phipps,
D. Pilz,
D. Porteous,
N. Pratt,
K. Prescott,
S. Price,
A. Pridham,
A. Procter,
H. Purnell,
Nicola K. Ragge,
Julia Rankin,
L. Raymond,
D. Rice,
L. Robert,
E. Roberts,
Gilbert Roberts,
Jonathan Roberts,
P. Roberts,
Allyson Ross,
E. Rosser,
A. Saggar,
S. Samant,
R. Sandford,
A. Sarkar,
Susann Schweiger,
C. Scott,
Regan Scott,
A. Selby,
A. Seller,
C. Sequeira,
N. Shannon,
S. Sharif,
C. Shaw-Smith,
E. Shearing,
D. Shears,
I. Simonic,
D. Simpkin,
R. Singzon,
Z. Skitt,
Andrew H. Smith,
Blair H. Smith,
Kath Smith,
S. Smithson,
L. Sneddon,
M. Splitt,
M. Squires,
Fiona J Stewart,
Helen Stewart,
Mohnish Suri,
V. R. Sutton,
G. Swaminathan,
Elizabeth Sweeney,
K. Tatton-Brown,
C. Taylor,
Robert W. Taylor,
M. Tein,
I. Temple,
J. Thomson,
John Tolmie,
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
🐜
|
|
🐜
|
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
108 auth.
J. Lord,
D. McMullan,
R. Y. Eberhardt,
G. Rinck,
S. Hamilton,
E. Quinlan-Jones,
E. Prigmore,
Rebecca Keelagher,
Sunayna Best,
Georgina K. Carey,
Rhiannon Mellis,
S. Robart,
Ian R Berry,
K. Chandler,
D. Cilliers,
...
L. Cresswell,
S. Edwards,
C. Gardiner,
A. Henderson,
S. Holden,
T. Homfray,
T. Lester,
R. Lewis,
R. Newbury-Ecob,
K. Prescott,
O. Quarrell,
S. Ramsden,
E. Roberts,
Dagmar Tapon,
Madeleine J Tooley,
P. Vasudevan,
A. Weber,
D. Wellesley,
P. Westwood,
H. White,
M. Parker,
Denise Williams,
L. Jenkins,
R. Scott,
M. Kilby,
L. Chitty,
M. Hurles,
E. Maher,
M. Bateman,
Ian R Berry,
Sunayna Best,
Carolyn Campbell,
Jennie Campbell,
Georgina K. Carey,
K. Chandler,
L. Chitty,
D. Cilliers,
K. Cohen,
E. Collingwood,
Panayiotis Constantinou,
L. Cresswell,
C. Delmege,
R. Y. Eberhardt,
S. Edwards,
Richard Ellis,
Jerry Evans,
Thomas Everett,
Clare F Pinto,
N. Forrester,
Emma Fowler,
C. Gardiner,
S. Hamilton,
K. Healey,
A. Henderson,
S. Holden,
T. Homfray,
Rebecca Hudson,
M. Hurles,
L. Jenkins,
Rebecca Keelagher,
M. Kilby,
T. Lester,
R. Lewis,
J. Lord,
E. Maher,
T. Marton,
D. McMullan,
S. Mehta,
Rhiannon Mellis,
R. Newbury-Ecob,
Soo-Mi Park,
M. Parker,
K. Prescott,
E. Prigmore,
O. Quarrell,
E. Quinlan-Jones,
S. Ramsden,
G. Rinck,
S. Robart,
E. Roberts,
Jay F Rowland,
R. Scott,
James Steer,
Dagmar Tapon,
E. Taylor,
Madeleine J Tooley,
P. Vasudevan,
A. Weber,
D. Wellesley,
P. Westwood,
H. White,
Denise Williams,
Elizabeth Wilson
|
9 |
2019 |
9
🐜
|
|
🐜
|
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
108 auth.
J. Lord,
D. McMullan,
R. Y. Eberhardt,
G. Rinck,
S. Hamilton,
E. Quinlan-Jones,
E. Prigmore,
Rebecca Keelagher,
Sunayna Best,
Georgina K. Carey,
Rhiannon Mellis,
S. Robart,
Ian R Berry,
K. Chandler,
D. Cilliers,
...
L. Cresswell,
S. Edwards,
C. Gardiner,
A. Henderson,
S. Holden,
T. Homfray,
T. Lester,
R. Lewis,
R. Newbury-Ecob,
K. Prescott,
O. Quarrell,
S. Ramsden,
E. Roberts,
Dagmar Tapon,
Madeleine J Tooley,
P. Vasudevan,
A. Weber,
D. Wellesley,
P. Westwood,
H. White,
M. Parker,
Denise Williams,
L. Jenkins,
R. Scott,
M. Kilby,
L. Chitty,
M. Hurles,
E. Maher,
M. Bateman,
Ian R Berry,
Sunayna Best,
Carolyn Campbell,
Jennie Campbell,
Georgina K. Carey,
K. Chandler,
L. Chitty,
D. Cilliers,
K. Cohen,
E. Collingwood,
Panayiotis Constantinou,
L. Cresswell,
C. Delmege,
R. Y. Eberhardt,
S. Edwards,
Richard Ellis,
Jerry Evans,
Thomas Everett,
Clare F Pinto,
N. Forrester,
Emma Fowler,
C. Gardiner,
S. Hamilton,
K. Healey,
A. Henderson,
S. Holden,
T. Homfray,
Rebecca Hudson,
M. Hurles,
L. Jenkins,
Rebecca Keelagher,
M. Kilby,
T. Lester,
R. Lewis,
J. Lord,
E. Maher,
T. Marton,
D. McMullan,
S. Mehta,
Rhiannon Mellis,
R. Newbury-Ecob,
Soo-Mi Park,
M. Parker,
K. Prescott,
E. Prigmore,
O. Quarrell,
E. Quinlan-Jones,
S. Ramsden,
G. Rinck,
S. Robart,
E. Roberts,
Jay F Rowland,
R. Scott,
James Steer,
Dagmar Tapon,
E. Taylor,
Madeleine J Tooley,
P. Vasudevan,
A. Weber,
D. Wellesley,
P. Westwood,
H. White,
Denise Williams,
Elizabeth Wilson
|
9 |
2019 |
9
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|
|
🐜
|
Evidence for 28 genetic disorders discovered by combining healthcare and research data
281 auth.
J. Kaplanis,
K. Samocha,
L. Wiel,
Zhancheng Zhang,
Kevin J. Arvai,
R. Y. Eberhardt,
G. Gallone,
Stefan H. Lelieveld,
H. Martin,
J. McRae,
Patrick J. Short,
R. Torene,
E. de Boer,
P. Danecek,
E. Gardner,
...
N. Huang,
J. Lord,
I. Martincorena,
R. Pfundt,
Margot R. F. Reijnders,
A. Yeung,
H. Yntema,
Silvia Borras,
C. Clark,
J. Dean,
Z. Miedzybrodzka,
A. Ross,
S. Tennant,
T. Dabir,
D. Donnelly,
M. Humphreys,
A. Magee,
V. Mcconnell,
S. McKee,
S. McNerlan,
P. Morrison,
Gillian Rea,
F. Stewart,
T. Cole,
N. Cooper,
Lisa Cooper-Charles,
H. Cox,
L. Islam,
J. Jarvis,
Rebecca Keelagher,
D. Lim,
D. McMullan,
J. Morton,
S. Naik,
M. O'Driscoll,
K. Ong,
D. Osio,
N. Ragge,
Sarah E Turton,
J. Vogt,
Denise Williams,
S. Bodek,
A. Donaldson,
A. Hills,
K. Low,
R. Newbury-Ecob,
A. Norman,
E. Roberts,
I. Scurr,
S. Smithson,
Madeleine J Tooley,
S. Abbs,
R. Armstrong,
C. Dunn,
S. Holden,
Soo-Mi Park,
J. Paterson,
L. Raymond,
E. Reid,
R. Sandford,
I. Simonic,
M. Tischkowitz,
G. Woods,
L. Bradley,
Joanne Comerford,
A. Green,
S. Lynch,
S. McQuaid,
B. Mullaney,
J. Berg,
D. Goudie,
Eleni Mavrak,
Joanne McLean,
C. Mcwilliam,
E. Reavey,
T. Azam,
Elaine M. Cleary,
Andrew Jackson,
W. Lam,
A. Lampe,
D. Moore,
M. Porteous,
E. Baple,
J. Baptista,
C. Brewer,
B. Castle,
E. Kivuva,
M. Owens,
J. Rankin,
C. Shaw-Smith,
C. Turner,
P. Turnpenny,
C. Tysoe,
T. Bradley,
R. Davidson,
C. Gardiner,
S. Joss,
E. Kinning,
C. Longman,
R. McGowan,
V. Murday,
D. Pilz,
E. Tobias,
M. Whiteford,
N. Williams,
A. Barnicoat,
E. Clement,
F. Faravelli,
J. Hurst,
L. Jenkins,
W. Jones,
V. K. A. Kumar,
M. Lees,
S. Loughlin,
Alison M. Male,
D. Morrogh,
E. Rosser,
R. Scott,
L. Wilson,
A. Beleza,
C. Deshpande,
F. Flinter,
M. Holder,
M. Irving,
L. Izatt,
D. Josifova,
S. Mohammed,
Aneta Molenda,
L. Robert,
W. Roworth,
D. Ruddy,
Mina Ryten,
S. Yau,
C. Bennett,
Moira Blyth,
Jennifer Campbell,
A. Coates,
A. Dobbie,
S. Hewitt,
E. Hobson,
Eilidh Jackson,
Rosalyn Jewell,
A. Kraus,
K. Prescott,
Eamonn Sheridan,
J. Thomson,
Kirsty Bradshaw,
A. Dixit,
J. Eason,
R. Haines,
R. Harrison,
Stacey Mutch,
A. Sarkar,
C. Searle,
N. Shannon,
A. Sharif,
M. Suri,
P. Vasudevan,
N. Canham,
I. Ellis,
L. Greenhalgh,
Emma Howard,
V. Stinton,
Andrew Swale,
A. Weber,
S. Banka,
Catherine Breen,
T. Briggs,
E. Burkitt-Wright,
K. Chandler,
J. Clayton-Smith,
D. Donnai,
S. Douzgou,
L. Gaunt,
E. Jones,
B. Kerr,
Claire Langley,
K. Metcalfe,
Audrey Smith,
R. Wright,
D. Bourn,
J. Burn,
R. Fisher,
S. Hellens,
A. Henderson,
T. Montgomery,
M. Splitt,
Volker Straub,
Michael Wright,
S. Zwolinski,
Zoe Allen,
B. Bernhard,
A. Brady,
Claire Brooks,
Louise Busby,
V. Clowes,
N. Ghali,
S. Holder,
Rita Ibitoye,
E. Wakeling,
Edward Blair,
J. Carmichael,
D. Cilliers,
S. Clasper,
Richard J. Gibbons,
U. Kini,
T. Lester,
Andrea M. Nemeth,
J. Poulton,
S. Price,
D. Shears,
H. Stewart,
Andrew Wilkie,
S. Albaba,
Duncan Baker,
M. Balasubramanian,
Diana S. Johnson,
M. Parker,
O. Quarrell,
A. Stewart,
J. Willoughby,
C. Crosby,
F. Elmslie,
T. Homfray,
Huilin Jin,
N. Lahiri,
S. Mansour,
K. Marks,
M. McEntagart,
A. Saggar,
K. Tatton-Brown,
R. Butler,
A. Clarke,
S. Corrin,
A. Fry,
Arveen Kamath,
E. McCann,
H. Mugalaasi,
C. Pottinger,
A. Procter,
J. Sampson,
F. Sansbury,
V. Varghese,
D. Baralle,
A. Callaway,
Emma-Jane Cassidy,
Stacey Daniels,
A. Douglas,
N. Foulds,
D. Hunt,
Mira Kharbanda,
K. Lachlan,
C. Mercer,
L. Side,
I. Temple,
D. Wellesley,
L. Vissers,
J. Juusola,
C. Wright,
H. Brunner,
H. Firth,
D. FitzPatrick,
J. Barrett,
M. Hurles,
C. Gilissen,
K. Retterer
|
8 |
2020 |
8
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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
31 auth.
I. Slade,
C. Bacchelli,
Helen R Davies,
Anne Murray,
S. Hanks,
R. Barfoot,
A. Burke,
J. Chisholm,
M. Hewitt,
H. Jenkinson,
D. King,
B. Morland,
B. Pizer,
K. Prescott,
A. Saggar,
...
L. Side,
H. Traunecker,
S. Vaidya,
P. Ward,
P. Futreal,
G. Vujanić,
A. Nicholson,
N. Sebire,
C. Turnbull,
J. Priest,
K. Pritchard‐Jones,
R. Houlston,
C. Stiller,
M. Stratton,
J. Douglas,
N. Rahman
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8 |
2011 |
8
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
319 auth.
Víctor 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,
Munaza Ahmed,
U. Anjum,
H. Archer,
R. Armstrong,
J. Awada,
M. Balasubramanian,
D. Baralle,
A. Barnicoat,
P. 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,
Lisa M. Bradley,
A. Brady,
Simon Brent,
C. Brewer,
K. Brunstrom,
D. Bunyan,
J. Burn,
B. Castle,
K. Chandler,
Elena Chatzimichali,
D. Cilliers,
Angus Clarke,
S. Clasper,
V. Clowes,
A. Coates,
T. Cole,
Irina Colgiu,
A. Collins,
M. Collinson,
F. Connell,
N. Cooper,
H. Cox,
L. Cresswell,
G. Cross,
Y. Crow,
Mariella D’Alessandro,
T. Dabir,
R. Davidson,
S. Davies,
Dylan de Vries,
J. Dean,
C. Deshpande,
G. Devlin,
A. Dixit,
A. Dobbie,
A. Donaldson,
D. Donnai,
D. Donnelly,
C. Donnelly,
A. Douglas,
S. Douzgou,
A. Duncan,
J. Eason,
S. Ellard,
I. 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,
J. Goodship,
D. Goudie,
E. 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,
E. Jones,
D. Josifova,
S. Joss,
B. Kaemba,
S. Kazembe,
R. Kelsell,
H. Kingston,
U. Kini,
E. Kinning,
G. Kirby,
C. Kirk,
E. Kivuva,
A. Kraus,
V. 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,
R. McGowan,
K. McKay,
D. McMullan,
S. McNerlan,
C. Mcwilliam,
S. Mehta,
K. Metcalfe,
A. Middleton,
Z. Miedzybrodzka,
E. Miles,
S. Mohammed,
T. Montgomery,
D. Moore,
S. Morgan,
H. Mugalaasi,
V. Murday,
Helen R Murphy,
S. Naik,
Andrea M. Nemeth,
L. Nevitt,
R. Newbury-Ecob,
A. Norman,
R. O’Shea,
C. Ogilvie,
K. Ong,
Soo-Mi Park,
C. Patel,
J. Paterson,
S. Payne,
D. Perrett,
J. Phipps,
D. Pilz,
M. Pollard,
C. Pottinger,
J. Poulton,
N. Pratt,
K. Prescott,
S. Price,
A. Pridham,
A. Procter,
H. Purnell,
O. Quarrell,
N. Ragge,
R. Rahbari,
Joshua C Randall,
L. Raymond,
D. Rice,
L. Robert,
E. Roberts,
Jonathan Roberts,
P. Roberts,
G. Roberts,
A. Ross,
E. Rosser,
A. Saggar,
S. Samant,
J. Sampson,
R. Sandford,
A. Sarkar,
S. Schweiger,
R. Scott,
I. Scurr,
A. Selby,
A. Seller,
C. Sequeira,
N. Shannon,
S. Sharif,
C. Shaw-Smith,
E. Shearing,
D. Shears,
E. Sheridan,
I. Simonic,
R. Singzon,
Z. Skitt,
Audrey Smith,
Kath Smith,
S. Smithson,
L. Sneddon,
M. Splitt,
M. Squires,
Fiona J. Stewart,
H. Stewart,
Volker Straub,
M. Suri,
V. Sutton,
G. Swaminathan,
E. Sweeney,
K. Tatton-Brown,
C. Taylor,
R. Taylor,
M. Tein,
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,
E. Wilkinson,
Denise Williams,
N. Williams,
L. Wilson,
G. Woods,
C. Wragg,
Michael Wright,
L. Yates,
Michael Yau,
C. Nellåker,
M. Parker,
H. Firth,
C. Wright,
D. FitzPatrick,
J. Barrett,
M. Hurles
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7 |
2018 |
7
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
75 auth.
Morad Ansari,
G. Poke,
Q. Ferry,
K. Williamson,
R. Aldridge,
A. Meynert,
Hemant Bengani,
C. Chan,
H. Kayserili,
Ş. Avcı,
R. Hennekam,
A. Lampe,
E. Redeker,
T. Homfray,
A. Ross,
...
Marie Falkenberg Smeland,
S. Mansour,
M. Parker,
J. Cook,
M. Splitt,
R. Fisher,
A. Fryer,
A. Magee,
A. Wilkie,
A. Barnicoat,
A. Brady,
N. Cooper,
C. Mercer,
C. Deshpande,
C. Bennett,
D. Pilz,
D. Ruddy,
D. Cilliers,
Diana S. Johnson,
D. Josifova,
E. Rosser,
E. Thompson,
E. Wakeling,
E. Kinning,
F. Stewart,
F. Flinter,
K. Girisha,
H. Cox,
H. Firth,
H. Kingston,
J. Wee,
J. Hurst,
J. Clayton-Smith,
J. Tolmie,
J. Vogt,
K. Tatton-Brown,
K. Chandler,
K. Prescott,
L. Wilson,
M. Behnam,
M. McEntagart,
R. Davidson,
S. Lynch,
S. Sisodiya,
S. Mehta,
S. McKee,
S. Mohammed,
S. Holden,
Soo-Mi Park,
S. Holder,
V. Harrison,
V. Mcconnell,
W. Lam,
A. Green,
D. Donnai,
M. Bitner-Glindzicz,
D. Donnelly,
C. Nellåker,
Martin S. Taylor,
D. FitzPatrick
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7 |
2014 |
7
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Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
17 auth.
Victoria Randall,
K. McCue,
C. Roberts,
V. Kyriakopoulou,
S. Beddow,
A. Barrett,
F. Vitelli,
K. Prescott,
C. Shaw-Smith,
K. Devriendt,
...
Erika A. Bosman,
Georg Steffes,
K. Steel,
S. Simrick,
M. A. Basson,
E. Illingworth,
P. Scambler
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7 |
2009 |
7
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|
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
49 auth.
D. Koolen,
R. Pfundt,
K. Linda,
G. Beunders,
H. Veenstra-Knol,
Jessie H. Conta,
A. Fortuna,
G. Gillessen‐Kaesbach,
S. Dugan,
S. Halbach,
O. Abdul-Rahman,
Heather M Winesett,
W. Chung,
Marguerite Dalton,
P. Dimova,
...
T. Mattina,
K. Prescott,
Hui Z. Zhang,
H. Saal,
J. Hehir-Kwa,
M. Willemsen,
C. Ockeloen,
M. Jongmans,
N. van der Aa,
P. Failla,
C. Barone,
E. Avola,
A. Brooks,
S. Kant,
E. Gerkes,
H. Firth,
K. Õunap,
L. Bird,
D. Masser-Frye,
J. Friedman,
Modupe A Sokunbi,
A. Dixit,
M. Splitt,
M. Kukolich,
J. McGaughran,
Bradley P. Coe,
J. Flórez,
N. Nadif Kasri,
H. Brunner,
E. Thompson,
J. Gécz,
C. Romano,
E. Eichler,
B. D. de Vries
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6 |
2015 |
6
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
52 auth.
I. Audo,
K. Bujakowska,
Elise Orhan,
C. Poloschek,
S. Defoort‐Dhellemmes,
I. Drumare,
S. Kohl,
Tien-Dao Luu,
O. Lecompte,
E. Zrenner,
Marie‐Elise Lancelot,
A. Antonio,
A. Germain,
C. Michiels,
Claire Audier,
...
M. Letexier,
J. Saraiva,
B. Leroy,
F. Munier,
S. Mohand-Saïd,
B. Lorenz,
C. Friedburg,
M. Preising,
U. Kellner,
A. Renner,
V. Moskova-Doumanova,
W. Berger,
B. Wissinger,
C. Hamel,
D. Schorderet,
E. de Baere,
D. Sharon,
E. Banin,
S. Jacobson,
D. Bonneau,
X. Zanlonghi,
G. Le Meur,
I. Casteels,
R. Koenekoop,
V. Long,
F. Meire,
K. Prescott,
T. de Ravel,
I. Simmons,
Hoan Nguyen,
H. Dollfus,
O. Poch,
T. Léveillard,
K. Nguyen-Ba-Charvet,
J. Sahel,
S. Bhattacharya,
C. Zeitz
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6 |
2012 |
6
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Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome
18 auth.
T. Ogi,
Sarah A. Walker,
T. Stiff,
E. Hobson,
S. Limsirichaikul,
G. Carpenter,
K. Prescott,
M. Suri,
Philip J. Byrd,
M. Matsuse,
...
N. Mitsutake,
Y. Nakazawa,
P. Vasudevan,
M. Barrow,
Grant S Stewart,
A. Taylor,
M. O’Driscoll,
P. Jeggo
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6 |
2012 |
6
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