|
๐
|
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,
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. Nellรฅker,
M. Parker,
H. Firth,
C. Wright,
D. FitzPatrick,
J. Barrett,
M. Hurles
|
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,
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. OโShea,
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
๐
|
|
๐
|
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
21 auth.
D. Simon,
R. Bindra,
T. Mansfield,
C. Nelson-Williams,
ร. Mendonรงa,
R. Stone,
S. Schurman,
A. Nayฤฑr,
H. Alpay,
A. Bakkaloฤlu,
...
J. Rodrรญguez-soriano,
Josรฉ M. Morales,
S. Sanjad,
C. Taylor,
D. Pilz,
A. Brem,
H. Trachtman,
W. Griswold,
G. Richard,
E. John,
R. Lifton
|
9 |
1997 |
9
๐
|
|
๐
|
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
20 auth.
P. Ostergaard,
M. Simpson,
F. Connell,
C. Steward,
G. Brice,
Wesley J. Woollard,
D. Dafou,
Tatjana Kilo,
S. Smithson,
P. Lunt,
...
V. Murday,
S. Hodgson,
R. Keenan,
D. Pilz,
I. Martinez-Corral,
T. Makinen,
P. Mortimer,
S. Jeffery,
R. Trembath,
S. Mansour
|
8 |
2011 |
8
๐
|
|
๐
|
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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|
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
11 auth.
D. Pilz,
N. Matsumoto,
S. Minnerath,
P. L. Mills,
J. Gleeson,
K. Allen,
...
C. Walsh,
A. Barkovich,
W. Dobyns,
D. Ledbetter,
M. Ross
|
8 |
1998 |
8
๐ฆ
|
|
๐
|
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
32 auth.
J. Symonds,
S. Zuberi,
K. Stewart,
A. McLellan,
M. O'Regan,
S. Macleod,
A. Jollands,
S. Joss,
M. Kirkpatrick,
A. Brunklaus,
D. Pilz,
J. Shetty,
L. Dorris,
I. Abu-Arafeh,
J. Andrew,
...
P. Brink,
M. Callaghan,
Jamie Cruden,
L. Diver,
Christine Findlay,
Sarah Gardiner,
R. Grattan,
B. Lang,
J. MacDonnell,
J. McKnight,
Calum A Morrison,
L. Nairn,
M. Slean,
E. Stephen,
Alan Webb,
A. Vincent,
Margaret Wilson
|
8 |
2019 |
8
๐
|
|
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|
Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability
23 auth.
K. Tatton-Brown,
S. Seal,
Elise Ruark,
J. Harmer,
Emma Ramsay,
Silvana del Vecchio Duarte,
A. Zachariou,
S. Hanks,
Eleanor M. OโBrien,
L. Aksglaede,
...
D. Baralle,
T. Dabir,
B. Gener,
D. Goudie,
T. Homfray,
Ajith Kumar,
D. Pilz,
A. Selicorni,
I. Temple,
Lionel Van Maldergem,
Naomi Yachelevich,
Robert van Montfort,
N. Rahman
|
8 |
2014 |
8
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|
|
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|
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
33 auth.
J. Riviรจre,
B. V. van Bon,
A. Hoischen,
S. Kholmanskikh,
B. OโRoak,
C. Gilissen,
Sabine Gijsen,
C. T. Sullivan,
S. Christian,
Omar Abdul-Rahman,
J. Atkin,
N. Chassaing,
V. DrouinโGarraud,
A. Fry,
J. Fryns,
...
K. Gripp,
M. Kempers,
T. Kleefstra,
G. Mancini,
Maลgorzata J. M. Nowaczyk,
C. V. van Ravenswaaij-Arts,
T. Roscioli,
M. Marble,
J. Rosenfeld,
V. Siu,
B. D. de Vries,
J. Shendure,
A. Verloes,
J. Veltman,
H. Brunner,
M. Ross,
D. Pilz,
W. Dobyns
|
8 |
2012 |
8
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|
|
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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
15 auth.
C. Cardoso,
R. Leventer,
Heather L. Ward,
K. Toyo-oka,
June Chung,
A. Gross,
C. Martin,
J. Allanson,
D. Pilz,
A. Olney,
...
O. Mutchinick,
S. Hirotsune,
A. Wynshaw-Boris,
W. Dobyns,
D. Ledbetter
|
7 |
2003 |
7
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|
|
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Differences in the gyral pattern distinguish chromosome 17โlinked and X-linked lissencephaly
11 auth.
W. Dobyns,
C. Truwit,
M. Ross,
N. Matsumoto,
D. Pilz,
D. Ledbetter,
...
J. Gleeson,
J. Gleeson,
C. Walsh,
C. Walsh,
A. Barkovich
|
7 |
1999 |
7
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|
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
15 auth.
R. Leventer,
A. Jansen,
D. Pilz,
N. Stoodley,
C. Marini,
F. Dubeau,
Jodie P. Malone,
L. Anne Mitchell,
S. Mandelstam,
I. Scheffer,
...
S. Berkovic,
F. Andermann,
E. Andermann,
R. Guerrini,
W. B. Dobyns
|
7 |
2010 |
7
๐
|
