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🐜
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
164 auth.
K. Carss,
G. Arno,
M. Erwood,
Jonathan Stephens,
Alba Sanchis-Juan,
S. Hull,
K. Megy,
D. Grozeva,
Eleanor F. Dewhurst,
S. Malka,
Vincent Plagnol,
C. Penkett,
K. Stirrups,
Roberta Rizzo,
G. Wright,
...
D. Josifova,
M. Bitner-Glindzicz,
Richard H. Scott,
Emma Clement,
L. Allen,
R. Armstrong,
Angela F. Brady,
Jenny Carmichael,
M. Chitre,
R. Henderson,
Jane A Hurst,
Robert E. MacLaren,
Elaine Murphy,
J. Paterson,
E. Rosser,
Dorothy A Thompson,
E. Wakeling,
W. Ouwehand,
M. Michaelides,
Anthony T. Moore,
NIHR-BioResource Rare,
Diseases Consortium,
A. R. Webster,
F. Raymond,
Professor F. Lucy,
Patrick Chandra,
Manali Chinnery,
Colin Chitre,
Emma Church,
Naomi Clement,
Virginia Clements-Brod,
Gerry Clowes,
Peter Coghlan,
Nichola Collins,
Cooper Amanda,
Rosa Creaser-Myers,
Louise DaCosta,
Sophie Daugherty,
John Davies,
Minka Davis,
Patrick De Vries,
Sri VV Deegan,
Charu Deevi,
Lisa Deshpande,
Eleanor Devlin,
Rainer Dewhurst,
Natalie Doffinger,
Elizabeth Dormand,
Drewe David Edgar,
William Egner,
Wendy N. Erber,
T. Everington,
Neeti Gattens,
Pavandeep K Ghali,
Rohit Ghataorhe,
Simon Ghurye,
Gibbs Kimberley,
Paul Gilmour,
Sarah Gissen,
Keith Goddard,
Pavel Gomez,
Gordins Stefan,
Gräf Daniel,
Greene Alan,
G. Andreas,
Greinacher Sofia,
Detelina Grigoriadou,
Scott Grozeva,
Charaka Hackett,
Rosie Hadinnapola,
Hague Matthias,
Csaba Haimel,
Tracey Halmagyi,
Daniel Hammerton,
Grant Hart,
WM HaymanJohan,
Robert Heemskerk,
Anke Henderson,
Yvonne Hensiek,
Henskens Archana,
Simon Herwadkar,
Muriel Holden,
S. Holder,
Fengyuan Holder,
Hu Aarnoud,
Marc Huissoon,
Jane Humbert,
Roger Hurst,
Stephen James,
Jolles Dragana,
Rashid Josifova,
David Kazmi,
Peter Keeling,
Anne M Kelleher,
Fiona Kelly,
David Kennedy,
Nathalie Kiely,
Ania Kingston,
Deepa Koziell,
Taco W Krishnakumar,
Dinakantha Kuijpers,
Manju Kumararatne,
Michael A Kurian,
Michele P Laffan,
Hana Lango Lambert,
Allan Allen,
Sara Lawrie,
Melissa Lear,
Claire Lees,
Lentaigne Ri,
Rachel Liesner,
Hilary Linger,
Lorena Longhurst,
Rajiv Lorenzo,
Rob Machado,
R. Mackenzie,
Eamonn MacLaren,
Jesmeen Maher,
Sarah Maimaris,
Mangles Ania,
Rutendo Manson,
Hugh S Mapeta,
Jennifer Markus,
Larahmie Martin,
Masati Mary,
Vera Mathias,
A. Matser,
Elizabeth Maw,
Coleen McDermott,
McJannet Stuart,
Sharon Meacham,
Karyn Meehan,
Sarju Megy,
Michel Mehta,
M. MichaelidesCarolyn,
Shahin Millar,
Anthony Moledina,
Nicholas Moore,
Andrew Morrell,
Sai Mumford,
Elaine Murng,
Sergey Murphy,
Sadia Nejentsev,
Paquita Noorani,
Eric Nurden,
Willem H Oksenhendler,
Sofia Ouwehand,
Soo-Mi Papadia,
Park
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8 |
2017 |
8
🐜
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🐜
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
70 auth.
E. Meyer,
K. Carss,
J. Rankin,
John M E Nichols,
D. Grozeva,
Agnel P Joseph,
N. Mencacci,
A. Papandreou,
J. Ng,
S. Barral,
A. Ngoh,
H. Ben-Pazi,
Michel A Willemsen,
D. Arkadir,
A. Barnicoat,
...
H. Bergman,
S. Bhate,
Amber Boys,
N. Darín,
N. Foulds,
N. Gutowski,
A. Hills,
H. Houlden,
Jane A Hurst,
Z. Israel,
M. Kaminska,
P. Limousin,
D. Lumsden,
S. McKee,
Shibalik Misra,
Shekeeb S Mohammed,
V. Nakou,
J. Nicolai,
Magnus Nilsson,
H. Pall,
K. Peall,
Gregory B Peters,
P. Prabhakar,
M. Reuter,
P. Rump,
R. Segel,
M. Sinnema,
Martin Smith,
P. Turnpenny,
Susan M White,
D. Wieczorek,
S. Wiethoff,
Brian T. Wilson,
G. Winter,
C. Wragg,
S. Pope,
S. Heales,
D. Morrogh,
A. Pittman,
Lucinda J Carr,
B. Pérez-Dueñas,
Jean-Pierre Lin,
A. Reis,
W. Gahl,
C. Toro,
K. Bhatia,
Nicholas W. Wood,
E. Kamsteeg,
W. Chong,
P. Gissen,
M. Topf,
Russell C. Dale,
Jonathan R. Chubb,
F. Raymond,
M. Kurian
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7 |
2016 |
7
🐜
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|
🐜
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
299 auth.
C. Hadinnapola,
M. Bleda,
M. Haimel,
N. Screaton,
Andrew J Swift,
P. Dorfmüller,
Stephen D. Preston,
M. Southwood,
Jules Hernández-Sánchez,
Jennifer M. Martin,
C. Treacy,
Katherine Yates,
H. Bogaard,
Colin Church,
G. Coghlan,
...
R. Condliffe,
P. Corris,
S. Gibbs,
B. Girerd,
S. Holden,
Marc Humbert,
D. Kiely,
A. Lawrie,
R. Machado,
R. M. MacKenzie Ross,
S. Moledina,
D. Montani,
M. Newnham,
A. Peacock,
J. Pepke-Zaba,
Paula Rayner-Matthews,
O. Shamardina,
F. Soubrier,
L. Southgate,
J. Suntharalingam,
M. Toshner,
R. Trembath,
A. Noordegraaf,
Martin R. Wilkins,
S. J. Wort,
J. Wharton,
S. Gräf,
N. Morrell,
T. Aitman,
David L. Bennett,
M. Caulfield,
Patrick F. Chinnery,
D. Gale,
A. Koziell,
Taco W. Kuijpers,
M. Laffan,
Eamonn R. Maher,
Hugh S. Markus,
W. Ouwehand,
David J. Perry,
F. Raymond,
Irene Roberts,
Kenneth G. C. Smith,
Adrian Thrasher,
Hugh Watkins,
C. Williamson,
G. Woods,
Sofie Ashford,
John R. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
C. Penkett,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
M. Erwood,
Amy J. Frary,
R. Linger,
S. Papadia,
Karola Rehnstrom,
Hannah Stark,
D. Allsup,
Steve Austin,
T. Bakchoul,
T. Bariana,
P. Bolton-Maggs,
Elizabeth Chalmers,
P. Collins,
Wendy N. Erber,
T. Everington,
R. Favier,
K. Freson,
Bruce Furie,
M. Gattens,
Keith Gomez,
D. Greene,
Andreas Greinacher,
Daniel Hart,
Johan W M Heemskerk,
Y. Henskens,
R. Kazmi,
David Keeling,
Anne M Kelly,
Michele P. Lambert,
C. Lentaigne,
R. Liesner,
S. Mangles,
M. Mathias,
C. Millar,
A. Mumford,
P. Nurden,
Jeanette Payne,
J. Pasi,
David J. Perry,
K. Peerlinck,
Michael Richards,
Matthew T Rondina,
Catherine Roughley,
Sol Schulman,
Harald Schulze,
M. Scully,
S. Sivapalaratnam,
R. C. Tait,
K. Talks,
J. Thachil,
E. Turro,
Cheng-Hock Toh,
C. van Geet,
Minka De Vries,
Timothy Q. Warner,
S. Westbury,
A. Furnell,
R. Mapeta,
Ilenia Simeoni,
Simon Staines,
J. Stephens,
Deborah Whitehorn,
C. Watt,
A. Attwood,
L. Daugherty,
Sri V. V. Deevi,
Csaba Halmagyi,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
Catherine Titterton,
Salih Tuna,
Ping Yu,
Julie von Ziegenweldt,
W. Astle,
K. Carss,
H. Lango-Allen,
Sylvia Richardson,
P. Calleja,
Stuart Rankin,
Wojciech Turek,
Christine J. Bryson,
Julie Anderson,
Coleen McJannet,
S. Stock,
E. Wassmer,
A. Sohal,
S. Santra,
J. Vogt,
M. Chitre,
D. Krishnakumar,
Gautum Ambegaonkar,
Anna Maw,
R. Armstrong,
Soo-Mi Park,
S. Mehta,
J. Paterson,
J. Carmichael,
L. Allen,
Anke Hensiek,
Helen V Firth,
Penelope Stein,
P. Deegan,
R. Doffinger,
Alasdair P. Parker,
M. Bitner-Glindzicz,
R. Scott,
Jane A Hurst,
E. Rosser,
Melissa Lees,
Emma Clement,
R. Henderson,
Dorothy A Thompson,
A. Gardham,
P. Gissen,
D. Josifova,
E. Thomas,
Chris Patch,
C. Deshpande,
Frances A Flinter,
M. Holder,
N. Canham,
E. Wakeling,
S. Holder,
N. Ghali,
A. Brady,
V. Clowes,
R. MacLaren,
A. Webster,
Anthony L Moore,
G. Arno,
M. Michaelides,
Julia Rankin,
M. Kurian,
Elaine Murphy,
Alba Sanchis-Juan,
D. Grozeva,
Evan Reid,
G. Woods,
M. Tischkowitz,
R. Sandford,
Sonia Ali,
A. Creaser-Myers,
V. Cookson,
Rosa Dacosta,
N. Dormand,
P. Ghataorhe,
A. Greenhalgh,
Anna E. Huis in’t Veld,
Fiona Kennedy,
R. M. MacKenzie Ross,
Larahmie Masati,
S. Meehan,
Shokri Othman,
Val Pollock,
Gary Polwarth,
Christopher J. Rhodes,
Kevin C. Rue-Albrecht,
Gwen Schotte,
Deborah Shipley,
Yvonne Tan,
Ivy Wanjiku,
John Wort,
Taco W. Kuijpers,
James E. D. Thaventhiran,
Hana Lango Allen,
E. Staples,
C. Samarghitean,
H. Alachkar,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
C. Booth,
Michael Browning,
Siobhan O. Burns,
Anita Chandra,
Nicholas J. Cooper,
Sophie Davies,
Lisa Devlin,
E. Drewe,
David Edgar,
William Egner,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
Scott Hackett,
Rosie Hague,
G. Hayman,
A. Herwadkar,
A. Huissoon,
Stephen Jolles,
P. Kelleher,
D. Kumararatne,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
Elizabeth McDermott,
S. Murng,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Isabella Quinti,
Alex Richter,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewell,
Hans-Jürgen Stauss,
Moira J. Thomas,
S. Welch,
L. Willcocks,
Nigel Yeatman,
Patrick Yong
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6 |
2017 |
6
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|
🐜
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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
301 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,
Angela Barnicoat,
Paul Batstone,
D. Baty,
C. Bennett,
Jonathan Berg,
B. Bernhard,
A. P. Bevan,
M. Bitner-Glindzicz,
Edward Blair,
Moira Blyth,
D. Bohanna,
L. Bourdon,
David Bourn,
L. Bradley,
Angela F. 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,
Jill Clayton-Smith,
V. Clowes,
A. Coates,
Trevor Cole,
Irina Colgiu,
Amanda L. Collins,
M. Collinson,
F. Connell,
N. Cooper,
Helen 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,
Sofia Douzgou,
A. Duncan,
J. Eason,
Sian Ellard,
Ian Ellis,
F. Elmslie,
K. Evans,
S. Everest,
T. Fendick,
R. Fisher,
Frances A Flinter,
N. Foulds,
A. Fry,
Alan Fryer,
C. Gardiner,
L. Gaunt,
N. Ghali,
Richard J. Gibbons,
H. Gill,
J. Goodship,
D. Goudie,
Emma V. Gray,
Andrew Green,
P. Greene,
L. Greenhalgh,
S. Gribble,
L. Harrison,
V. Harrison,
R. Hawkins,
Liu He,
S. Hellens,
Alex Henderson,
S. Hewitt,
Lucy Hildyard,
E. Hobson,
S. Holden,
M. Holder,
S. Holder,
G. Hollingsworth,
T. Homfray,
Mervyn Humphreys,
Jane A 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,
Bronwyn Kerr,
Helen Kingston,
U. Kini,
E. Kinning,
G. Kirby,
C. Kirk,
E. Kivuva,
A. Kraus,
Dhavendra Kumar,
V. Kumar,
K. Lachlan,
Wayne Lam,
A. Lampe,
C. Langman,
Melissa Lees,
D. Lim,
Cheryl Longman,
G. Lowther,
S. Lynch,
A. Magee,
E. Maher,
Alison M. Male,
Sahar Mansour,
K. Marks,
K. Martin,
U. Maye,
E. McCann,
Vivienne McConnell,
MERIEL E Mcentagart,
Ruth McGowan,
Kirsten McKay,
S. McKee,
D. McMullan,
S. Mcnerlan,
C. Mcwilliam,
S. Mehta,
K. Metcalfe,
Anna Middleton,
Z. Miedzybrodzka,
E. Miles,
Shehla N Mohammed,
T. Montgomery,
D. Moore,
Sian Morgan,
J. Morton,
H. Mugalaasi,
Victoria Murday,
Helen R Murphy,
S. Naik,
Andrea H Németh,
L. Nevitt,
R. Newbury-Ecob,
Andrew Norman,
R. O’Shea,
C. Ogilvie,
K. Ong,
Soo-Mi Park,
M. Parker,
Chirag J. Patel,
J. Paterson,
Stewart Payne,
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J. Phipps,
D. Pilz,
Martin O Pollard,
C. Pottinger,
Joanna Poulton,
N. Pratt,
K. Prescott,
Sue Price,
A. Pridham,
A. Procter,
H. Purnell,
Oliver Quarrell,
Nicola K. 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,
Katherine R. Smith,
S. Smithson,
L. Sneddon,
M. Splitt,
M. Squires,
Fiona J Stewart,
Helen Stewart,
Volker Straub,
Mohnish Suri,
V. Sutton,
G. Swaminathan,
Elizabeth Sweeney,
K. Tatton-Brown,
C. Taylor,
R. Taylor,
M. Tein,
I. K. 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,
Margo Whiteford,
S. Widaa,
S. Wilcox,
Emily Wilkinson,
Denise K. Williams,
Nicola Williams,
Louise C. Wilson,
G. Woods,
C. Wragg,
Michael Wright,
Laura Yates,
Michael Yau,
C. Nellåker,
M. Parker,
H. Firth,
C. Wright,
David R Fitzpatrick,
Jeffrey C. Barrett,
M. Hurles
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5 |
2016 |
5
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|
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
376 auth.
Yoko A. Ito,
K. Carss,
S. Duarte,
T. Hartley,
B. Keren,
M. Kurian,
I. Marey,
P. Charles,
C. Mendonca,
C. Nava,
R. Pfundt,
Alba Sanchis-Juan,
H. van Bokhoven,
A. van Essen,
C. V. van Ravenswaaij-Arts,
...
T. Aitman,
David L. Bennett,
M. Caulfield,
Patrick F. Chinnery,
D. Gale,
A. Koziell,
Taco W. Kuijpers,
M. Laffan,
Eamonn R. Maher,
Hugh S. Markus,
Nicholas W. Morrell,
W. Ouwehand,
David J. Perry,
F. Raymond,
Irene Roberts,
Kenneth G. C. Smith,
A. Thrasher,
Hugh Watkins,
C. Williamson,
G. Woods,
Sofie Ashford,
John R. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
C. Penkett,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
H. Dolling,
M. Erwood,
Amy J. Frary,
R. Linger,
Jennifer M. Martin,
S. Papadia,
Karola Rehnstrom,
Hannah Stark,
D. Allsup,
Steve Austin,
T. Bakchoul,
T. Bariana,
P. Bolton-Maggs,
Elizabeth Chalmers,
J. Collins,
P. Collins,
Wendy N. Erber,
T. Everington,
R. Favier,
K. Freson,
Bruce Furie,
M. Gattens,
J. Gebhart,
Keith Gomez,
D. Greene,
Andreas Greinacher,
P. Gresele,
Daniel Hart,
Johan W M Heemskerk,
Y. Henskens,
R. Kazmi,
David Keeling,
A. Kelly,
Michele P. Lambert,
C. Lentaigne,
R. Liesner,
Mike Makris,
S. Mangles,
M. Mathias,
C. Millar,
A. Mumford,
P. Nurden,
Jeanette Payne,
J. Pasi,
K. Peerlinck,
S. Revel-Vilk,
Michael Richards,
Matthew T Rondina,
Catherine Roughley,
Sol Schulman,
Harald Schulze,
M. Scully,
S. Sivapalaratnam,
M. Stubbs,
R. C. Tait,
K. Talks,
J. Thachil,
Cheng-Hock Toh,
E. Turro,
C. van Geet,
Minka De Vries,
Timothy Q. Warner,
Henry G. Watson,
S. Westbury,
A. Furnell,
R. Mapeta,
Paula Rayner-Matthews,
Ilenia Simeoni,
Simon Staines,
J. Stephens,
C. Watt,
Deborah Whitehorn,
A. Attwood,
L. Daugherty,
Sri V. V. Deevi,
Csaba Halmagyi,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
O. Shamardina,
Catherine Titterton,
Salih Tuna,
Ping Yu,
Julie von Ziegenweldt,
W. Astle,
M. Bleda,
K. Carss,
Stefan Gräf,
M. Haimel,
H. Lango-Allen,
Sylvia Richardson,
P. Calleja,
Stuart Rankin,
Wojciech Turek,
Julie Anderson,
Christine J. Bryson,
J. Carmichael,
Coleen McJannet,
S. Stock,
L. Allen,
Gautum Ambegaonkar,
R. Armstrong,
G. Arno,
Maria Bitner-Glindzicz,
A. Brady,
N. Canham,
M. Chitre,
Emma Clement,
V. Clowes,
P. Deegan,
C. Deshpande,
R. Doffinger,
H. Firth,
F. Flinter,
Courtney E. French,
A. Gardham,
N. Ghali,
P. Gissen,
D. Grozeva,
R. Henderson,
Anke Hensiek,
S. Holden,
M. Holder,
S. Holder,
Jane A Hurst,
D. Josifova,
D. Krishnakumar,
M. Kurian,
M. Lees,
R. MacLaren,
Anna Maw,
S. Mehta,
M. Michaelides,
Anthony L Moore,
Elaine Murphy,
Soo-Mi Park,
A. Parker,
Chris Patch,
J. Paterson,
Julia Rankin,
Evan Reid,
E. Rosser,
Alba Sanchis-Juan,
R. Sandford,
S. Santra,
R. Scott,
A. Sohal,
Penelope Stein,
E. Thomas,
Dorothy A Thompson,
M. Tischkowitz,
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E. Wassmer,
A. Webster,
Sonia Ali,
Souad Ali,
Harm J. Boggard,
Colin Church,
G. Coghlan,
V. Cookson,
P. Corris,
A. Creaser-Myers,
Rosa Dacosta,
N. Dormand,
M. Eyries,
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5 |
2018 |
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
307 auth.
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2017 |
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)
70 auth.
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
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0 |
2021 |
0
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