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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
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10 |
2017 |
10
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|
🐜
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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,
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E. Hobson,
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Rosalyn Jewell,
A. Kraus,
K. Prescott,
Eamonn Sheridan,
J. Thomson,
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A. Dixit,
J. Eason,
R. Haines,
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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
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8 |
2020 |
8
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Whole-genome sequencing of patients with rare diseases in a national health system
452 auth.
E. Turro,
W. Astle,
K. Megy,
S. Gräf,
D. Greene,
O. Shamardina,
H. L. Allen,
Alba Sanchis-Juan,
M. Frontini,
C. Thys,
J. Stephens,
R. Mapeta,
O. Burren,
K. Downes,
M. Haimel,
...
Salih Tuna,
Sri V. V. Deevi,
T. Aitman,
David L. Bennett,
P. Calleja,
K. Carss,
M. Caulfield,
P. Chinnery,
P. Dixon,
D. Gale,
R. James,
A. Koziell,
M. Laffan,
A. Levine,
E. Maher,
H. Markus,
Joannella Morales,
N. Morrell,
A. Mumford,
E. Ormondroyd,
Stuart Rankin,
A. Rendon,
S. Richardson,
I. Roberts,
N. Roy,
M. Saleem,
Kenneth G. C. Smith,
H. Stark,
R. Tan,
Andreas C Themistocleous,
A. Thrasher,
H. Watkins,
A. Webster,
M. Wilkins,
C. Williamson,
J. Whitworth,
S. Humphray,
D. Bentley,
S. Abbs,
L. Abulhoul,
J. Adlard,
Munaza Ahmed,
H. Alachkar,
D. Allsup,
J. Almeida-King,
P. Ancliff,
R. Antrobus,
R. Armstrong,
G. Arno,
Sofie Ashford,
A. Attwood,
P. Aurora,
C. Babbs,
C. Bacchelli,
T. Bakchoul,
S. Banka,
T. Bariana,
J. Barwell,
Joana Batista,
H. Baxendale,
P. Beales,
A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
G. Black,
M. Bleda,
Iulia Blesneac,
D. Bockenhauer,
H. Bogaard,
Christian J. Bourne,
S. Boyce,
J. Bradley,
E. Bragin,
G. Breen,
P. Brennan,
C. Brewer,
Matthew Brown,
A. Browning,
M. Browning,
R. Buchan,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
J. Burn,
S. Burns,
N. Burrows,
Carolyn Campbell,
G. Carr-White,
R. Casey,
Jenny Chambers,
John Chambers,
M. Chan,
Calvin Cheah,
F. Cheng,
M. Chitre,
M. Christian,
C. Church,
J. Clayton-Smith,
M. Cleary,
Naomi Clements Brod,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
Camilla Colombo,
C. Compton,
R. Condliffe,
S. Cook,
H. Cook,
Nichola H Cooper,
P. Corris,
A. Furnell,
Fiona Cunningham,
N. Curry,
A. Cutler,
M. Daniels,
M. Dattani,
L. Daugherty,
John Davis,
A. De Soyza,
Timothy Dent,
C. Deshpande,
Eleanor F. Dewhurst,
S. Douzgou,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
J. Edgar,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
P. Elliott,
W. Erber,
M. Erwood,
M. Estiú,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
H. Fassihi,
R. Favier,
J. Findhammer,
Debra Fletcher,
F. Flinter,
R. Floto,
T. Fowler,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
H. Gall,
V. Ganesan,
M. Gattens,
C. Geoghegan,
Terence S. A. Gerighty,
A. Gharavi,
S. Ghio,
H. Ghofrani,
J. Gibbs,
Kate Gibson,
K. Gilmour,
B. Girerd,
Nicholas S. Gleadall,
S. Goddard,
D. Goldstein,
K. Gomez,
Pavels Gordins,
D. Gosal,
J. Graham,
L. Grassi,
L. Greenhalgh,
A. Greinacher,
P. Gresele,
P. Griffiths,
S. Grigoriadou,
R. Grocock,
D. Grozeva,
M. Gurnell,
S. Hackett,
C. Hadinnapola,
W. Hague,
R. Hague,
M. Hall,
H. Hanson,
Eshika Haque,
K. Harkness,
A. Harper,
Claire L. Harris,
D. Hart,
Ahamad Hassan,
G. Hayman,
A. Henderson,
A. Herwadkar,
Jonathan Hoffman,
S. Holden,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
Fengyuan Hu,
G. Hudson,
J. Hughes,
A. Huissoon,
M. Humbert,
Sarah Hunter,
Matthew Hurles,
M. Irving,
L. Izatt,
Sally A. Johnson,
S. Jolles,
J. Jolley,
D. Josifova,
Neringa Jurkute,
Tim Karten,
J. Karten,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
P. Kelleher,
A. Kelly,
W. Kelsall,
Carly Kempster,
D. Kiely,
N. Kingston,
R. Klima,
Nils Koelling,
Myrto A. Kostadima,
G. Kovacs,
Roman Kreuzhuber,
T. Kuijpers,
Ajith Kumar,
D. Kumararatne,
M. Kurian,
F. Lalloo,
Michele P. Lambert,
A. Lawrie,
D. M. Layton,
N. Lench,
C. Lentaigne,
T. Lester,
R. Linger,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
P. Lyons,
R. Machado,
R. M. MacKenzie Ross,
B. Madan,
Jesmeen Maimaris,
S. Malka,
S. Mangles,
K. Marchbank,
S. Marks,
H. Marschall,
Andrew Marshall,
Jennifer M. Martin,
M. Mathias,
E. Matthews,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
H. McKinney,
A. McMahon,
Stuart Meacham,
A. Mead,
Ignacio Castelló,
S. Mehta,
M. Michaelides,
C. Millar,
S. Mohammed,
S. Moledina,
D. Montani,
A. Moore,
M. Mozere,
K. Muir,
A. Nemeth,
W. G. Newman,
M. Newnham,
S. Noorani,
P. Nurden,
J. O'Sullivan,
S. Obaji,
C. Odhams,
S. Okoli,
A. Olschewski,
H. Olschewski,
K. Ong,
S. Oram,
W. Ouwehand,
C. Palles,
S. Papadia,
Soo-Mi Park,
D. Parry,
Smita Y. Patel,
J. Paterson,
A. Peacock,
S. H. Pearce,
J. Peden,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
Romina Petersen,
C. Pilkington,
Ken Poole,
Radhika Prathalingam,
B. Psaila,
A. Pyle,
R. Quinton,
S. Rahman,
A. Rao,
F. Raymond,
Paula Rayner-Matthews,
Christine Rees,
T. Renton,
Christopher J. Rhodes,
Andrew S C Rice,
A. Richter,
L. Robert,
Anthony Rogers,
S. Rose,
R. Ross-Russell,
Catherine Roughley,
D. Ruddy,
O. Sadeghi-Alavijeh,
N. Samani,
C. Samarghitean,
R. Sargur,
R. Sarkany,
S. Satchell,
S. Savic,
J. Sayer,
G. Sayer,
L. Scelsi,
A. Schaefer,
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W. Seeger,
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W. Sewell,
Denis Seyres,
N. Shah,
S. Shapiro,
A. Shaw,
Patrick J. Short,
Keith R Sibson,
L. Side,
Ilenia Simeoni,
Michael Simpson,
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D. Smedley,
Katherine R. Smith,
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N. Soranzo,
F. Soubrier,
L. Southgate,
O. Spasic-Boskovic,
Simon Staines,
E. Staples,
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K. Stirrups,
A. Stuckey,
J. Suntharalingam,
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K. Talks,
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James E. D. Thaventhiran,
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Moira J. Thomas,
Patrick Thomas,
K. Thomson,
Glen Threadgold,
T. Tilly,
M. Tischkowitz,
Catherine Titterton,
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C. Geet,
N. Zuydam,
Maarten Vandekuilen,
A. Vandersteen,
Marta Vazquez-Lopez,
J. von Ziegenweidt,
A. Vonk Noordegraaf,
Annette Wagner,
Q. Waisfisz,
S. Walker,
Neil E. Walker,
Klaudia Walter,
J. Ware,
C. Watt,
L. Wedderburn,
Wei Wei,
S. Welch,
Julie Wessels,
S. Westbury,
J. Westwood,
J. Wharton,
Deborah Whitehorn,
A. Wilkie,
Brian T. Wilson,
E. Wong,
N. Wood,
Y. Wood,
C. Woods,
E. Woodward,
S. Wort,
A. Worth,
Michael Wright,
Katherine Yates,
P. Yong,
Tim Young,
Ping Yu,
P. Yu-Wai-Man,
Eliska Zlamalova,
F. Raymond,
W. Ouwehand
|
8 |
2020 |
8
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|
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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,
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Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
41 auth.
L. Micale,
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2011 |
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
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PEDIA: prioritization of exome data by image analysis
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Hoertnagel Konstanze,
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Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
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D. Wieczorek,
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2014 |
5
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
18 auth.
E. Lenassi,
J. Clayton-Smith,
S. Douzgou,
S. Ramsden,
S. Ingram,
G. Hall,
Claire Hardcastle,
T. Fletcher,
R. Taylor,
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I. C. Lloyd,
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P. Sergouniotis
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2019 |
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