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Identification of the familial cylindromatosis tumour-suppressor gene
41 auth.
G. Bignell,
W. Warren,
S. Seal,
Meiko Takahashi,
E. Rapley,
R. Barfoot,
H. Green,
Carolanne Brown,
Patrick J. Biggs,
Sunil R. Lakhani,
Christopher J. Jones,
J. Hansen,
E. Blair,
B. Hofmann,
R. Siebert,
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G. Turner,
D. G. Evans,
C. Schrander‐Stumpel,
F. A. Beemer,
A. V. D. Ouweland,
D. Halley,
B. Delpech,
M. Cleveland,
I. Leigh,
J. Leisti,
S. Rasmussen,
Margaret R. Wallace,
C. Fenske,
Piu Banerjee,
N. Oiso,
Ranbir Chaggar,
Samantha Merrett,
N. Leonard,
M. Huber,
D. Hohl,
P. Chapman,
J. Burn,
S. Swift,
Anna Smith,
A. Ashworth,
Michael R. Stratton
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9 |
2000 |
9
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
15 auth.
R. Walsh,
K. Thomson,
J. Ware,
B. Funke,
Jessica Woodley,
K. McGuire,
F. Mazzarotto,
E. Blair,
A. Seller,
Jenny C. Taylor,
...
E. Minikel,
D. MacArthur,
M. Farrall,
S. Cook,
H. Watkins
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9 |
2016 |
9
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
20 auth.
A. Sharp,
S. Hansen,
R. Selzer,
Ze Cheng,
R. Regan,
J. Hurst,
H. Stewart,
S. Price,
E. Blair,
R. Hennekam,
...
Carrie A. Fitzpatrick,
R. Segraves,
T. Richmond,
Cheryl Guiver,
D. Albertson,
D. Pinkel,
P. S. Eis,
S. Schwartz,
S. Knight,
E. Eichler
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9 |
2006 |
9
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Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
9 auth.
E. Blair,
C. Redwood,
H. Ashrafian,
Marisa Oliveira,
J. Broxholme,
B. Kerr,
...
A. Salmon,
I. Östman-Smith,
H. Watkins
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9 |
2001 |
9
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
136 auth.
Y. Crow,
D. Chase,
Johanna Lowenstein Schmidt,
M. Szynkiewicz,
Gabriella M. A. Forte,
H. Gornall,
A. Oojageer,
Beverley H Anderson,
A. Pizzino,
G. Helman,
M. Abdel-Hamid,
G. Abdel-Salam,
S. Ackroyd,
A. Aeby,
G. Agosta,
...
Catherine Albin,
Stavit Allon-Shalev,
Montse Arellano,
G. Ariaudo,
V. Aswani,
R. Babul‐Hirji,
E. Baildam,
N. Bahi-Buisson,
Kathryn M Bailey,
C. Barnerias,
M. Barth,
R. Battini,
M. Beresford,
G. Bernard,
M. Bianchi,
T. Billette de Villemeur,
E. Blair,
M. Bloom,
A. Burlina,
Maria Luisa Carpanelli,
D. Carvalho,
M. Castro‐Gago,
A. Cavallini,
Cristina Cereda,
K. Chandler,
D. Chitayat,
A. Collins,
C. Sierra Córcoles,
N.J.V. Cordeiro,
G. Crichiutti,
Lyvia Dabydeen,
R. Dale,
S. D'Arrigo,
C. de Goede,
Corinne de Laet,
Liesbeth De Waele,
I. Denzler,
I. Desguerre,
K. Devriendt,
M. Di Rocco,
M. Fahey,
E. Fazzi,
C. Ferrie,
António Figueiredo,
B. Gener,
C. Goizet,
N. R. Gowrinathan,
K. Gowrishankar,
D. Hanrahan,
B. Isidor,
B. Kara,
Nasaim Khan,
M. King,
E. Kirk,
Ram Kumar,
L. Lagae,
P. Landrieu,
H. Lauffer,
V. Laugel,
R. Piana,
M. Lim,
Jean-Pierre Lin,
T. Linnankivi,
M. Mackay,
Daphna Marom,
Charles Marques LourenḈo,
S. McKee,
I. Moroni,
J. Morton,
M. Moutard,
Kevin Murray,
R. Nabbout,
S. Nampoothiri,
N. Núñez-Enamorado,
P. Oades,
I. Olivieri,
J. Ostergaard,
B. Pérez-Dueñas,
J. Prendiville,
V. Ramesh,
M. Rasmussen,
L. Régal,
F. Ricci,
M. Rio,
D. Rodriguez,
A. Roubertie,
E. Salvatici,
K. Segers,
Gyanranjan P. Sinha,
D. Soler,
R. Spiegel,
T. Stödberg,
R. Straussberg,
K. Swoboda,
M. Suri,
U. Tacke,
T. Tan,
J. te Water Naudé,
Keng Wee Teik,
Maya Mary Thomas,
M. Till,
D. Tonduti,
Enza Maria Valente,
Rudy Noel Van Coster,
M. S. van der Knaap,
G. Vassallo,
R. Vijzelaar,
J. Vogt,
G. Wallace,
E. Wassmer,
Hannah J. Webb,
W. Whitehouse,
Robyn N. Whitney,
M. Zaki,
S. Zuberi,
J. Livingston,
F. Rozenberg,
P. Lebon,
A. Vanderver,
S. Orcesi,
G. Rice
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8 |
2015 |
8
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|
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Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.
10 auth.
J. Crilley,
E. Boehm,
E. Blair,
B. Rajagopalan,
A. Blamire,
P. Styles,
...
W. McKenna,
I. Ostman-Smith,
K. Clarke,
H. Watkins
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8 |
2003 |
8
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|
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
46 auth.
G. Rice,
T. Patrick,
R. Parmar,
Claire F. Taylor,
A. Aeby,
J. Aicardi,
R. Artuch,
S. Montalto,
C. Bacino,
B. Barroso,
P. Baxter,
W. S. Benko,
C. Bergmann,
E. Bertini,
R. Biancheri,
...
E. Blair,
N. Blau,
D. Bonthron,
T. Briggs,
L. Brueton,
H. Brunner,
C. J. Burke,
I. Carr,
D. Carvalho,
K. Chandler,
Hans-jÜrgen Christen,
S. D'Arrigo,
C. Laet,
C. Praeter,
Catherine Déry,
K. Flintoff,
C. Goizet,
F. Goutières,
A. Guët,
Amy Kao,
J. Klepper,
Charles M Lourenço,
Daphna Marom,
R. Mcwilliam,
L. Mewasingh,
M. Moutard,
K. Nischal,
John R. Østergaard,
D. Soler,
R. Spiegel,
S. Orcesi
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8 |
2007 |
8
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|
🐜
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
110 auth.
Jenny C. Taylor,
H. Martin,
S. Lise,
J. Broxholme,
J. Cazier,
A. Rimmer,
Alexander Kanapin,
G. Lunter,
S. Fiddy,
C. Allan,
A. Aricescu,
M. Attar,
C. Babbs,
J. Becq,
D. Beeson,
...
C. Bento,
P. Bignell,
E. Blair,
V. Buckle,
Katherine R. Bull,
O. Cais,
H. Cario,
H. Chapel,
R. Copley,
R. Cornall,
Jude Craft,
K. Dahan,
E. Davenport,
C. Dendrou,
O. Devuyst,
A. Fenwick,
J. Flint,
L. Fugger,
R. Gilbert,
A. Goriely,
A. Green,
I. Greger,
R. Grocock,
A. Gruszczyk,
R. Hastings,
E. Hatton,
D. Higgs,
A. Hill,
Chris Holmes,
Malcolm F. Howard,
L. Hughes,
P. Humburg,
David Johnson,
F. Karpe,
Z. Kingsbury,
U. Kini,
J. Knight,
J. Krohn,
S. Lamble,
C. Langman,
L. Lonie,
J. Luck,
Davis J. McCarthy,
S. McGowan,
M. McMullin,
K. Miller,
L. Murray,
A. Nemeth,
M. Nesbit,
D. Nutt,
E. Ormondroyd,
A. Oturai,
A. Pagnamenta,
Smita Y. Patel,
M. Percy,
N. Petousi,
P. Piazza,
Sian E. Piret,
G. Polanco-Echeverry,
N. Popitsch,
F. Powrie,
C. Pugh,
L. Quek,
P. Robbins,
K. Robson,
A. Russo,
N. Sahgal,
P. V. van Schouwenburg,
A. Schuh,
E. Silverman,
A. Simmons,
P. Sørensen,
E. Sweeney,
John M. Taylor,
R. Thakker,
I. Tomlinson,
A. Trebes,
S. Twigg,
H. Uhlig,
P. Vyas,
T. Vyse,
S. Wall,
H. Watkins,
M. Whyte,
L. Witty,
B. Wright,
C. Yau,
D. Buck,
S. Humphray,
P. Ratcliffe,
J. Bell,
A. Wilkie,
D. Bentley,
P. Donnelly,
G. McVean
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8 |
2015 |
8
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|
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
106 auth.
F. Hamdan,
Candace T. Myers,
P. Cossette,
P. Lemay,
D. Spiegelman,
A. Laporte,
Christina Nassif,
Ousmane Diallo,
Jean Monlong,
Maxime Cadieux-Dion,
Sylvia Dobrzeniecka,
C. Meloche,
K. Retterer,
M. Cho,
J. Rosenfeld,
...
W. Bi,
C. Massicotte,
M. Miguet,
L. Brunga,
Brigid M. Regan,
Kelly Mo,
C. Tam,
Amy L. Schneider,
Georgie Hollingsworth,
D. FitzPatrick,
A. Donaldson,
N. Canham,
E. Blair,
B. Kerr,
A. Fry,
R. Thomas,
Joss Shelagh,
J. Hurst,
H. Brittain,
Moira Blyth,
R. Lebel,
E. Gerkes,
Laura Davis‐Keppen,
Q. Stein,
W. Chung,
S. J. Dorison,
P. Benke,
E. Fassi,
N. Corsten‐Janssen,
E. Kamsteeg,
F. T. Mau-Them,
A. Bruel,
A. Verloes,
K. Õunap,
M. Wojcik,
Dara V. F. Albert,
S. Venkateswaran,
Tyson L. Ware,
Dean L Jones,
Yu‐Chi Liu,
S. Mohammad,
P. Bizargity,
C. Bacino,
V. Leuzzi,
S. Martinelli,
B. Dallapiccola,
M. Tartaglia,
Lubov Blumkin,
K. Wierenga,
Gabriela Purcarin,
J. O’Byrne,
S. Stockler,
A. Lehman,
B. Keren,
Marie-Christine Nouguès,
C. Mignot,
S. Auvin,
C. Nava,
S. Hiatt,
M. Bebin,
Yunru Shao,
F. Scaglia,
S. Lalani,
R. Frye,
I. Jarjour,
S. Jacques,
Renée-Myriam Boucher,
Emilie M Riou,
M. Srour,
L. Carmant,
A. Lortie,
P. Major,
P. Diadori,
F. Dubeau,
G. D'anjou,
G. Bourque,
S. Berkovic,
L. Sadleir,
Philippe M. Campeau,
Z. Kibar,
R. Lafreniére,
S. Girard,
S. Mercimek-Mahmutoglu,
C. Boelman,
G. Rouleau,
I. Scheffer,
H. Mefford,
D. Andrade,
E. Rossignol,
B. Minassian,
J. Michaud
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8 |
2017 |
8
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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
H. Ashrafian,
C. Redwood,
E. Blair,
H. Watkins
|
8 |
2003 |
8
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|
🐜
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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
32 auth.
H. Martin,
Grace E. Kim,
A. Pagnamenta,
Y. Murakami,
G. Carvill,
E. Meyer,
R. Copley,
A. Rimmer,
G. Barcia,
M. Fleming,
J. Kronengold,
Maile R. Brown,
K. Hudspith,
J. Broxholme,
Alexander Kanapin,
...
J. Cazier,
T. Kinoshita,
R. Nabbout,
D. Bentley,
G. McVean,
S. Heavin,
Z. Zaiwalla,
T. McShane,
H. Mefford,
D. Shears,
H. Stewart,
M. Kurian,
I. Scheffer,
E. Blair,
P. Donnelly,
L. Kaczmarek,
Jenny C. Taylor
|
7 |
2014 |
7
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|
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Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
13 auth.
D. Lim,
S. Bowdin,
L. Tee,
G. Kirby,
E. Blair,
A. Fryer,
W. Lam,
C. Oley,
T. Cole,
L. Brueton,
...
W. Reik,
F. Macdonald,
E. Maher
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7 |
2008 |
7
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