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π
|
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
16 auth.
Linda S. Weaving,
J. Christodoulou,
S. Williamson,
K. Friend,
O. McKenzie,
H. Archer,
Julie C. Evans,
A. Clarke,
G. Pelka,
P. Tam,
...
C. Watson,
H. Lahooti,
C. Ellaway,
B. Bennetts,
H. Leonard,
J. GΓ©cz
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8 |
2004 |
8
π
|
|
π
|
Molecular and Clinical Characterization of Mutations in Transcription Factors
11 auth.
T. Frayling,
Julie C. Evans,
M. Bulman,
E. Pearson,
L. Allen,
K. Owen,
...
C. Bingham,
M. Hannemann,
M. Shepherd,
S. Ellard,
A. Hattersley
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8 |
2001 |
8
π
|
|
π
|
Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis.
18 auth.
Kati Asumalahti,
M. Ameen,
S. Suomela,
E. Hagforsen,
G. MichaΓ«lsson,
Julie C. Evans,
M. Munro,
C. Veal,
M. Allen,
J. Leman,
...
A. David Burden,
B. Kirby,
M. Connolly,
C. Griffiths,
R. Trembath,
J. Kere,
U. Saarialho-Kere,
J. Barker
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7 |
2003 |
7
π
|
|
π
|
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
12 auth.
H. Archer,
Julie C. Evans,
S. Edwards,
J. Colley,
R. Newbury-Ecob,
F. O'callaghan,
...
M. Huyton,
M. O'Regan,
J. Tolmie,
J. Sampson,
A. Clarke,
J. Osborne
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7 |
2006 |
7
π
|
|
π
|
Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.
20 auth.
M. Weedon,
P. Schwarz,
Y. Horikawa,
N. Iwasaki,
T. Illig,
R. Holle,
W. Rathmann,
T. Selisko,
Jan Schulze,
K. Owen,
...
Julie C. Evans,
L. del Bosque-Plata,
G. Hitman,
M. Walker,
J. Levy,
M. Sampson,
G. Bell,
M. McCarthy,
A. Hattersley,
T. Frayling
|
7 |
2003 |
7
π
|
|
π
|
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
25 auth.
A. Nemeth,
A. Kwasniewska,
S. Lise,
Ricardo Parolin Schnekenberg,
Esther B. E. Becker,
Katarzyna Bera,
M. Shanks,
L. Gregory,
D. Buck,
M. Zameel Cader,
K. Talbot,
R. de Silva,
N. Fletcher,
R. Hastings,
S. Jayawant,
...
P. Morrison,
P. Worth,
Malcolm Taylor,
J. Tolmie,
M. O'Regan,
R. Valentine,
E. Packham,
Julie C. Evans,
A. Seller,
J. Ragoussis
|
7 |
2013 |
7
π
|
|
π¦
|
Early onset seizures and Rett-like features associated with mutations in CDKL5
18 auth.
Julie C. Evans,
H. Archer,
James P Colley,
K. Ravn,
J. Nielsen,
A. Kerr,
Elizabeth Williams,
J. Christodoulou,
J. GΓ©cz,
P. Jardine,
...
M. Wright,
D. Pilz,
L. Lazarou,
D. Cooper,
J. Sampson,
R. Butler,
S. Whatley,
A. Clarke
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7 |
2005 |
7
π¦
|
|
π
|
A global network for investigating the genomic epidemiology of malaria
113 auth.
E. Achidi,
T. Agbenyega,
S. Allen,
O. Amodu,
K. Bojang,
D. Conway,
P. Corran,
P. Deloukas,
A. Djimde,
A. Dolo,
O. Doumbo,
C. Drakeley,
P. Duffy,
S. Dunstan,
Jennifer A. Evans,
...
J. Farrar,
Deepika Fernando,
T. Hien,
R. Horstmann,
M. Ibrahim,
N. Karunaweera,
G. Kokwaro,
K. Koram,
D. Kwiatkowski,
M. Lemnge,
J. Makani,
K. Marsh,
P. Michon,
D. Modiano,
M. Molyneux,
I. Mueller,
T. Mutabingwa,
M. Parker,
N. Peshu,
C. Plowe,
O. Puijalon,
J. Ragoussis,
J. Reeder,
Hugh Reyburn,
E. Riley,
J. Rogers,
A. Sakuntabhai,
P. Singhasivanon,
S. Sirima,
G. Sirugo,
A. Tall,
T. Taylor,
M. Thera,
M. Troye-Blomberg,
T. Williams,
M. Wilson,
L. Amenga-Etego,
T. Apinjoh,
Edith C. Bougouma,
R. Dewasurendra,
M. DiakitΓ©,
A. Enimil,
A. Hussein,
D. Ishengoma,
M. Jallow,
E. Lin,
A. Ly,
V. Mangano,
A. Manjurano,
L. Manning,
Carolyne M. Ndila,
Vysaul B. Nyirongo,
T. Oluoch,
N. QuyαΊΏn,
P. Suriyaphol,
O. Toure,
K. Rockett,
Aaron Vanderwal,
T. Clark,
R. Wrigley,
Daniel Alcock,
Sarah Auburn,
D. Barnwell,
S. Bull,
S. Campino,
Jantina deVries,
Abier M Elzein,
Julie C. Evans,
Kathryn E. Fitzpatrick,
A. Ghansah,
A. Green,
Lee Hart,
Eliza Hilton,
C. Hubbart,
Catherine Hughes,
Anna E. Jeffreys,
K. Kivinen,
B. MacInnis,
M. Manske,
G. Maslen,
Marilyn McCreight,
Alieu Mendy,
C. Moyes,
Aceme Nyika,
C. Potter,
P. Risley,
K. Rowlands,
Miguel A. Sanjoaquin,
K. Small,
Elilan Somaskantharajah,
M. Stevens,
Y. Teo,
RenΓ©e Watson,
D. Carucci,
K. Cook,
Alan Doyle,
O. Duombo,
M. Gottlieb
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7 |
2008 |
7
π
|
|
π
|
Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus.
11 auth.
C. Veal,
F. Capon,
M. Allen,
E. K. Heath,
Julie C. Evans,
Andrew J. I. Jones,
...
Shanta Patel,
D. Burden,
D. Tillman,
J. Barker,
R. Trembath
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7 |
2002 |
7
π
|
|
π
|
The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.
10 auth.
Michael H. Allen,
H. Ameen,
C. Veal,
Julie C. Evans,
V.S. Ramrakha-Jones,
A.M. Marsland,
...
A. David Burden,
C.E.M. Griffiths,
R. Trembath,
J. Barker
|
6 |
2005 |
6
π
|
|
π
|
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
12 auth.
H. Archer,
Julie C. Evans,
H. Leonard,
L. Colvin,
D. Ravine,
J. Christodoulou,
...
S. Williamson,
T. Charman,
M. Bailey,
J. Sampson,
N. de Klerk,
A. Clarke
|
6 |
2006 |
6
π
|
