|
🐜
|
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
🐜
|
|
🐜
|
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
|
8 |
2017 |
8
🐜
|
|
🐜
|
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,
D. Perrett,
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
|
5 |
2016 |
5
🐜
|
|
🐜
|
Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations
9 auth.
C. Angwin,
N. Ghali,
Duncan Baker,
Angela F. Brady,
F. Pope,
A. Vandersteen,
...
B. Wagner,
David J. P. Ferguson,
F. S. V. Dijk
|
4 |
2020 |
4
🐜
|
|
🐜
|
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
20 auth.
N. Ghali,
D. Baker,
Angela F. Brady,
N. Burrows,
E. Cervi,
D. Cilliers,
M. Frank,
Dominique P. Germain,
David J. S. Hulmes,
M. Jacquemont,
...
P. Kannu,
Henrietta Lefroy,
A. Legrand,
F. Pope,
L. Robertson,
A. Vandersteen,
Kate von Klemperer,
R. Warburton,
M. Whiteford,
F. V. van Dijk
|
4 |
2019 |
4
🐜
|
|
🐢
|
Phenotypic spectrum associated with de novo mutations in QRICH1 gene
A. Ververi,
M. Splitt,
J. Dean,
D. Study,
Angela F. Brady
|
3 |
2018 |
3
🐢
|
|
🐜
|
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
20 auth.
A. Vandersteen,
R. Weerakkody,
David A Parry,
Christina Kanonidou,
Daniel Toddie-Moore,
J. Vandrovcova,
R. Darlay,
Javier Santoyo-Lopez,
Alison Meynert,
Nihr BioResource,
...
H. Kazkaz,
Rodney Grahame,
Carole Cummings,
M. Bartlett,
N. Ghali,
Angela F. Brady,
F. Pope,
F. S. V. Dijk,
Heather J Cordell,
T. Aitman
|
2 |
2023 |
2
🐜
|
|
🐜
|
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
20 auth.
A. Vandersteen,
R. Weerakkody,
David A Parry,
Christina Kanonidou,
Daniel Toddie-Moore,
J. Vandrovcova,
R. Darlay,
Javier Santoyo-Lopez,
Alison Meynert,
Nihr BioResource,
...
H. Kazkaz,
Rodney Grahame,
Carole Cummings,
M. Bartlett,
N. Ghali,
Angela F. Brady,
F. Pope,
F. S. V. Dijk,
Heather J Cordell,
T. Aitman
|
2 |
2023 |
2
🐜
|
|
🐜
|
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
49 auth.
E. Szenker-Ravi,
Tim Ott,
Amirah Yusof,
Maya Chopra,
Muznah Khatoo,
Beatrice Pak,
Wei Xuan Goh,
Anja Beckers,
Angela F. Brady,
Lisa J Ewans,
Nabila Djaziri,
Naif A. M. Almontashiri,
M. Alghamdi,
Essa Alharby,
Majed Dasouki,
...
Lindsay Romo,
Wen-Hann Tan,
S. Maddirevula,
F. Alkuraya,
J. L. Giordano,
Anna Alkelai,
Ronald J. Wapner,
K. Stals,
M. Alfadhel,
A. Alswaid,
Susanne Bogusch,
Anna Schafer-Kosulya,
Sebastian Vogel,
Philipp Vick,
A. Schweickert,
M. Wakeling,
Anne Moreau de Bellaing,
A. AlShamsi,
Damien Sanlaville,
H. Mbarek,
Chadi Saad,
Sian Ellard,
F. Eisenhaber,
K. Tripolszki,
Christian Beetz,
Peter Bauer,
A. Gossler,
B. Eisenhaber,
Martin Blum,
Patrice Bouvagnet,
Aida M Bertoli-Avella,
J. Amiel,
C. T. Gordon,
Bruno Reversade
|
0 |
2024 |
0
🐜
|
|
🐜
|
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
49 auth.
E. Szenker-Ravi,
Tim Ott,
Amirah Yusof,
Maya Chopra,
Muznah Khatoo,
Beatrice Pak,
Wei Xuan Goh,
Anja Beckers,
Angela F. Brady,
Lisa J Ewans,
Nabila Djaziri,
Naif A. M. Almontashiri,
M. Alghamdi,
Essa Alharby,
Majed Dasouki,
...
Lindsay Romo,
Wen-Hann Tan,
S. Maddirevula,
F. Alkuraya,
J. L. Giordano,
Anna Alkelai,
Ronald J. Wapner,
K. Stals,
M. Alfadhel,
A. Alswaid,
Susanne Bogusch,
Anna Schafer-Kosulya,
Sebastian Vogel,
Philipp Vick,
A. Schweickert,
M. Wakeling,
Anne Moreau de Bellaing,
A. AlShamsi,
Damien Sanlaville,
H. Mbarek,
Chadi Saad,
Sian Ellard,
F. Eisenhaber,
K. Tripolszki,
Christian Beetz,
Peter Bauer,
A. Gossler,
B. Eisenhaber,
Martin Blum,
Patrice Bouvagnet,
Aida M Bertoli-Avella,
J. Amiel,
C. T. Gordon,
Bruno Reversade
|
0 |
2024 |
0
🐜
|
