|
🐜
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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
🐜
|
|
🐜
|
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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|
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Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
24 auth.
M. Loane,
J. Morris,
M. Addor,
L. Arriola,
J. Budd,
B. Doray,
E. Garne,
M. Gatt,
M. Haeusler,
B. Khoshnood,
...
K. Melve,
A. Latos-Bieleńska,
B. McDonnell,
C. Mullaney,
M. O’Mahony,
A. Queisser-Wahrendorf,
J. Rankin,
A. Rissmann,
C. Rounding,
J. Salvador,
D. Tucker,
D. Wellesley,
L. Yevtushok,
H. Dolk
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8 |
2012 |
8
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|
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Long term trends in prevalence of neural tube defects in Europe: population based study
30 auth.
B. Khoshnood,
M. Loane,
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