|
🐜
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
51 auth.
G. Rice,
J. Bond,
A. Asipu,
Rebecca L. Brunette,
I. Manfield,
I. Carr,
Jonathan C. Fuller,
R. Jackson,
Teresa Lamb,
T. Briggs,
Manir Ali,
H. Gornall,
Lydia R Couthard,
A. Aeby,
S. Attard‐Montalto,
...
E. Bertini,
C. Bodemer,
K. Brockmann,
L. Brueton,
P. Corry,
I. Desguerre,
E. Fazzi,
Á. G. Cazorla,
B. Gener,
B. Hamel,
A. Heiberg,
M. Hunter,
M. Knaap,
Ram Kumar,
L. Lagae,
P. Landrieu,
Charles M Lourenço,
Daphna Marom,
M. McDermott,
W. V. D. Merwe,
S. Orcesi,
J. Prendiville,
M. Rasmussen,
S. Shalev,
D. Soler,
M. Shinawi,
R. Spiegel,
T. Tan,
A. Vanderver,
E. Wakeling,
E. Wassmer,
E. Whittaker,
P. Lebon,
Daniel B. Stetson,
D. Bonthron,
Y. Crow
|
9 |
2009 |
9
🐜
|
|
🐜
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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
|
8 |
2007 |
8
🐜
|
|
🐜
|
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
12 auth.
S. Uppal,
C. Diggle,
I. Carr,
C. Fishwick,
Mushtaq Ahmed,
G. Ibrahim,
...
P. Helliwell,
A. Latos-Bieleńska,
S. Phillips,
A. Markham,
C. Bennett,
D. Bonthron
|
8 |
2008 |
8
🐜
|
|
🐜
|
Identification of SATB2 as the cleft palate gene on 2q32-q33.
13 auth.
D. FitzPatrick,
I. Carr,
L. McLaren,
J. Leek,
P. Wightman,
K. Williamson,
P. Gautier,
N. McGill,
C. Hayward,
H. Firth,
...
A. Markham,
J. Fantes,
D. Bonthron
|
8 |
2003 |
8
🐜
|
|
🐜
|
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
19 auth.
D. Parry,
C. Logan,
B. Hayward,
M. Shires,
H. Landolsi,
C. Diggle,
I. Carr,
C. Rittore,
I. Touitou,
L. Philibert,
...
R. Fisher,
M. Fallahian,
J. Huntriss,
H. Picton,
S. Malik,
G. Taylor,
Colin A. Johnson,
D. Bonthron,
E. Sheridan
|
7 |
2011 |
7
🐜
|
|
🐜
|
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
20 auth.
D. Parry,
A. Mighell,
W. El-Sayed,
R. Shore,
I. Jalili,
H. Dollfus,
A. Bloch-Zupan,
R. Carlos,
I. Carr,
L. Downey,
...
K. M. Blain,
D. Mansfield,
M. Shahrabi,
M. Heidari,
P. Aref,
M. Abbasi,
M. Michaelides,
A. Moore,
J. Kirkham,
C. Inglehearn
|
7 |
2009 |
7
🐜
|
|
🦁
|
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
I. Carr,
K. Flintoff,
Graham Taylor,
A. Markham,
D. Bonthron
|
7 |
2006 |
7
🦁
|
|
🐜
|
Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme
9 auth.
C. Diggle,
M. Shires,
D. Leitch,
David Brooke,
I. Carr,
A. Markham,
...
B. Hayward,
A. Asipu,
D. Bonthron
|
7 |
2009 |
7
🐜
|
|
🐜
|
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
17 auth.
M. R. Abdollahi,
E. Morrison,
Tamara M Sirey,
Z. Molnár,
B. Hayward,
I. Carr,
K. Springell,
C. Woods,
Mushtaq Ahmed,
L. Hattingh,
...
P. Corry,
D. Pilz,
N. Stoodley,
Y. Crow,
G. Taylor,
D. Bonthron,
E. Sheridan
|
7 |
2009 |
7
🐜
|
|
🐜
|
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
35 auth.
R. Hjeij,
A. Onoufriadis,
C. Watson,
Christopher E. Slagle,
N. Klena,
G. Dougherty,
M. Kurkowiak,
N. Loges,
C. Diggle,
N. Morante,
George C Gabriel,
Kristi L Lemke,
You Li,
P. Pennekamp,
T. Menchen,
...
Franziska Konert,
J. Marthin,
D. Mans,
S. Letteboer,
C. Werner,
T. Burgoyne,
C. Westermann,
A. Rutman,
I. Carr,
C. O’Callaghan,
E. Moya,
E. Chung,
E. Sheridan,
K. Nielsen,
R. Roepman,
Kerstin Bartscherer,
R. Burdine,
C. Lo,
H. Omran,
H. Mitchison
|
7 |
2014 |
7
🐜
|
|
🐜
|
An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target
13 auth.
S. Mahil,
M. Catapano,
P. Di Meglio,
N. Dand,
H. Ahlfors,
I. Carr,
Catherine H. Smith,
R. Trembath,
M. Peakman,
John Wright,
...
F. Ciccarelli,
J. Barker,
F. Capon
|
7 |
2017 |
7
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