π
|
Prevalence and architecture of de novo mutations in developmental disorders
302 auth.
J. McRae,
Stephen Clayton,
Tomas W. Fitzgerald,
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E. Prigmore,
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A. Sifrim,
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N. Akawi,
M. Alvi,
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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,
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J. Awada,
M. Balasubramanian,
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A. Barnicoat,
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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,
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Irina Colgiu,
Amanda Collins,
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Ian Ellis,
F. Elmslie,
K. Evans,
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T. Fendick,
R. Fisher,
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A. Fryer,
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C. Wragg,
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|
10 |
2017 |
10 π
|
π
|
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
134 auth.
D. Pinto,
Elsa Delaby,
Elsa Delaby,
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M. Barbosa,
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L. Klei,
B. Thiruvahindrapuram,
Xiao Xu,
R. Ziman,
Zhuozhi Wang,
J. Vorstman,
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...
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M. Pilorge,
M. Pilorge,
M. Pilorge,
G. Pellecchia,
A. Pagnamenta,
B. Oliveira,
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T. MagalhΓ£es,
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J. Lowe,
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E. Duketis,
B. Dombroski,
M. Jonge,
M. Cuccaro,
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C. Correia,
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J. Conroy,
InΘs C. ConceiΓ§Γ£o,
InΘs C. ConceiΓ§Γ£o,
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J. Casey,
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Guiqing Cai,
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|
9 |
2014 |
9 π
|
π
|
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,
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...
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C. Pottinger,
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V. Varghese,
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C. Mercer,
L. Side,
I. Temple,
D. Wellesley,
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H. Brunner,
H. Firth,
D. FitzPatrick,
J. Barrett,
M. Hurles,
C. Gilissen,
K. Retterer
|
8 |
2020 |
8 π
|
π
|
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
319 auth.
VΓctor 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,
...
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M. Parker,
J. Rankin,
Lisa K. Robertson,
I. Temple,
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J. Kaplanis,
E. Prigmore,
D. Rajan,
A. Sifrim,
Stuart Aitken,
N. Akawi,
M. Alvi,
K. Ambridge,
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T. Bayzetinova,
P. Jones,
W. Jones,
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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,
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J. Berg,
B. Bernhard,
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M. Bitner-Glindzicz,
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Simon Brent,
C. Brewer,
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D. Bunyan,
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Elena Chatzimichali,
D. Cilliers,
Angus Clarke,
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Irina Colgiu,
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A. Dixit,
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N. Foulds,
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L. Gaunt,
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A. Green,
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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,
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L. Islam,
Andrew Jackson,
J. Jarvis,
L. Jenkins,
Diana S. Johnson,
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R. Kelsell,
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G. Swaminathan,
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B. Treacy,
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P. Turnpenny,
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V. Varghese,
P. Vasudevan,
Parthiban Vijayarangakannan,
J. Vogt,
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Sarah Wallwark,
J. Waters,
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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. NellΓ₯ker,
M. Parker,
H. Firth,
C. Wright,
D. FitzPatrick,
J. Barrett,
M. Hurles
|
7 |
2018 |
7 π
|
π
|
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
10 auth.
J. Barber,
C. Joyce,
M. Collinson,
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M. Bateman,
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6 |
1998 |
6 π
|
π
|
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
282 auth.
P. Marques,
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L. Bradley,
K. Bradley,
C. Brain,
A. Brooke,
Roger R. Brown,
M. Buchfelder,
C. Burren,
M. Cakir,
N. Canham,
J. Capraro,
P. Carroll,
Philippa J Carter,
D. Carty,
Dominic Cavlan,
H. Chahal,
T. Cheetham,
F. Chentli,
C. Choong,
M. Christ-Crain,
T. Chung,
Peter E. Clayton,
Richard N. Clayton,
Mark Cohen,
H. Courtney,
D. Cove,
E. Crowne,
D. Cuthbertson,
Jacob Dal,
N. Dalantaeva,
S. DamjanoviΔ,
C. Daousi,
K. Darzy,
M. Dattani,
M. Davies,
J. Davies,
Julian R. E. Davis,
M. de Castro,
L. De Marinis,
Cheri I. Deal,
J. DΓ©nes,
P. Dimitri,
N. Dorward,
Graham J. Dow,
W. Drake,
M. Druce,
J. Drummond,
P. Dutta,
L. Dzeranova,
Britt EdΓ©n-EngstrΓΆm,
R. Eeles,
M. Elfving,
K. Ellis,
M. Elston,
L. Emmerson,
S. Ezzat,
N. Fersht,
S. Fica,
S. Fischli,
M. Fleseriu,
E. Forsythe,
W. Foulkes,
P. Freda,
Theodore Friedman,
M. Gadelha,
M. Gainsborough,
S. Gallacher,
P. Gallego,
Hoong-Wei Gan,
C. Georgescu,
E. Gevers,
C. Gilkes,
N. Glynn,
J. Goldman,
A. Goldstone,
M. GΓ³th,
A. Green,
L. Greenhalgh,
J. Grieve,
Luiz Griz,
M. Guitelman,
A. GΓΌrlek,
M. Gurnell,
P. Hamblin,
V. HΓ‘na,
Philip Harding,
Eleanor M. Hay,
D. Hilton,
Winnie Ho,
G. Hong,
K. HorvΓ‘th,
S. Howell,
T. Howlett,
C. HΓΆybye,
S. Hunter,
Chandi Idampitiya,
P. Igaz,
W. Inder,
T. Iwata,
L. Izatt,
S. Jagadeesh,
C. Johnston,
B. Jose,
G. Kaltsas,
Felicity Kaplan,
N. Karavitaki,
D. KaΕ‘telan,
M. Katz,
T. Kearney,
M. Kershaw,
B. Khoo,
C. Kiraly-Borri,
R. Knispelis,
G. Kovacs,
Amit Kumar,
Ajith Kumar,
I. Kun,
Angelos Kyriaku,
I. Lambrescu,
A. Lampe,
E. Laws,
Agnieszka Lebek-Szatanska,
R. Lechan,
G. Leese,
A. Levy,
M. Levy,
K. Lewandowski,
E. Lin,
J. Lo,
Catherine Lyons,
N. Maartens,
M. Maghnie,
T. Makaya,
H. Marcus,
M. Niedziela,
N. Martin,
A. Matsuno,
B. McGowan,
S. Mcquaid,
M. Medic-Stojanoska,
N. Mendoza,
MoisΓ©s Mercado-AtrΓ,
S. Mettananda,
E. MezΕsi,
D. MiljiΔ,
K. Miller,
Silvia Modenesi,
M. Molitch,
J. Monson,
D. Morris,
P. Morrison,
B. Mosterman,
Alia Munir,
R. Murray,
M. MuΘat,
N. Musolino,
L. Nachtigall,
D. Nagi,
R. Nair,
R. Nelson,
J. Newell-Price,
K. Nikookam,
Arla Ogilivie,
S. Orme,
Martin OΒ΄Weickert,
A. Pal,
I. PaΘcanu,
A. PatΓ³cs,
Catherine Patterson,
S. Pearce,
F. Pecori Giraldi,
L. Penney,
L. Perez-Rivas,
M. Pfeifer,
F. Pirie,
N. Poplawski,
V. PopoviΔ,
Michael J. Powell,
P. Pullan,
R. Quinton,
Ε. Radian,
H. Randeva,
N. Reddy,
A. Rees,
V. Renals,
AntΓ΄nio Ribeiro de Oliveira,
T. Richardson,
C. Rodd,
R. Ross,
F. Roncaroli,
F. Ryan,
R. Salvatori,
C. SchΓΆfl,
D. Shears,
K. Shotliff,
R. Skelly,
Katie Snape,
B. Soares,
N. Somasundaram,
A. Spada,
James Sperber,
H. Spoudeas,
M. Stelmachowska-BanaΕ,
S. Stewart,
H. Storr,
C. Strasburger,
M. Street,
I. SuterβWidmer,
G. Suthers,
F. Swords,
L. Syro,
Brede Swantje,
Candy Sze,
Juliet Taylor,
R. Thakker,
Elaine Tham,
C. Thompson,
M. Thorner,
M. TΓ³th,
P. Trainer,
S. Tsagarakis,
Gina Twine,
M. Tzanela,
J. VadΓ‘sz,
B. Vaidya,
V. Vaks,
M. Vance,
R. VerkauskienΔ,
Hilde Von Esch,
J. Wass,
M. Waterhouse,
S. Webb,
A. Weber,
F. Wernig,
H. Widell,
S. Yamada,
Patrick Yap,
S. Yarman,
Philip Yeoh,
K. Yoshimoto,
K. Yuen,
N. Zammitt
|
5 |
2020 |
5 π
|
π
|
Detection of novel germline mutations for breast cancer in nonβBRCA1/2 families
13 auth.
Fatima Aloraifi,
T. Mcdevitt,
Rui Martiniano,
J. McGreevy,
R. Mclaughlin,
Christopher Egan,
N. Cody,
M. Meany,
E. Kenny,
A. Green,
...
D. Bradley,
J. Geraghty,
A. Bracken
|
5 |
2015 |
5 π
|
π
|
The contribution of X-linked coding variation to severe developmental disorders
265 auth.
H. Martin,
E. Gardner,
K. Samocha,
J. Kaplanis,
N. Akawi,
A. Sifrim,
R. Y. Eberhardt,
A. L. T. Tavares,
M. Neville,
Mari E. K. Niemi,
G. Gallone,
J. McRae,
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. 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,
E. 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,
A. Wilkie,
S. Albaba,
Duncan Baker,
M. Balasubramanian,
Diana S. Johnson,
M. Parker,
O. Quarrell,
Alison G. 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,
Angus 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,
C. Wright,
D. FitzPatrick,
H. Firth,
M. Hurles
|
5 |
2020 |
5 π
|
π
|
Constitutional trisomy 8 and BehΓ§et syndrome
10 auth.
K. Becker,
O. FitzGerald,
A. Green,
M. Keogan,
R. Newbury-Ecob,
L. Greenhalgh,
...
S. Withers,
E. Hollox,
Patricia M R Aldred,
J. Armour
|
5 |
2009 |
5 π
|
π
|
Xp22.3 Microdeletion in a 19βYearβOld Girl with Clinical Features of MLS Syndrome
8 auth.
F. Enright,
P. Campbell,
R. Stallings,
K. Hall,
A. Green,
E. Sweeney,
...
L. Barnes,
R. Watson
|
3 |
2003 |
3 π
|
π
|
Fine mapping and association studies in a candidate region for autism on chromosome 2q31βq32
12 auth.
J. Conroy,
L. Cochrane,
R. Anney,
J. Sutcliffe,
Paula Carthy,
A. Dunlop,
...
M. Mullarkey,
B. O'hici,
A. Green,
S. Ennis,
M. Gill,
L. Gallagher
|
3 |
2009 |
3 π
|