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🐜
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
80 auth.
P. Tarpey,
Raffaella Smith,
E. Pleasance,
A. Whibley,
S. Edkins,
Claire W. Hardy,
S. O’Meara,
Calli Latimer,
E. Dicks,
A. Menzies,
P. Stephens,
M. Blow,
Christopher Greenman,
Yali Xue,
C. Tyler-Smith,
...
Deborah J. Thompson,
K. Gray,
J. Andrews,
S. Barthorpe,
G. Buck,
J. Cole,
R. Dunmore,
David Jones,
M. Maddison,
T. Mironenko,
Rachel Turner,
K. Turrell,
J. Varian,
S. West,
S. Widaa,
P. Wray,
J. Teague,
A. Butler,
A. Jenkinson,
Mingming Jia,
David Richardson,
Rebecca Shepherd,
R. Wooster,
Isabel Tejada,
F. Martínez,
G. Carvill,
R. Goliath,
M. ArjanP,
de Brouwer,
H. Bokhoven,
H. Esch,
J. Chelly,
M. Raynaud,
H. Ropers,
F. Abidi,
A. Srivastava,
J. Cox,
Ying Luo,
U. Mallya,
Jenny Moon,
Josef Parnau,
S. Mohammed,
J. Tolmie,
C. Shoubridge,
M. Corbett,
A. Gardner,
E. Haan,
Sinitdhorn Rujirabanjerd,
M. Shaw,
Lucianne Vandeleur,
T. Fullston,
D. Easton,
Jackie Boyle,
M. Partington,
A. Hackett,
M. Field,
C. Skinner,
R. Stevenson,
M. Bobrow,
G. Turner,
C. Schwartz,
Jozef Gecz,
Lucy Raymond,
P. Futreal,
M. Stratton
|
9 |
2009 |
9
🐜
|
|
🐜
|
Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene
14 auth.
J. Gray,
G. Yeo,
J. Cox,
Jenny Morton,
Anna-Lynne R. Adlam,
J. Keogh,
J. Yanovski,
Areeg El Gharbawy,
Joan C. Han,
Y. C. Tung,
...
J. Hodges,
F. Raymond,
S. O’Rahilly,
I. Farooqi
|
8 |
2006 |
8
🐜
|
|
🐜
|
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
15 auth.
M. Jacoby,
J. Cox,
S. Gayral,
D. Hampshire,
Mohammed Ayub,
M. Blockmans,
Eileen Pernot,
Marina V. Kisseleva,
P. Compère,
S. Schiffmann,
...
F. Gergely,
J. H. Riley,
D. Perez-Morga,
C. Woods,
S. Schurmans
|
8 |
2009 |
8
🐜
|
|
🐜
|
WDR62 is associated with the spindle pole and is mutated in human microcephaly
18 auth.
A. Nicholas,
M. Khurshid,
J. Désir,
Ofélia P Carvalho,
J. Cox,
G. Thornton,
R. Kausar,
M. Ansar,
W. Ahmad,
A. Verloes,
...
S. Passemard,
J. Misson,
S. Lindsay,
F. Gergely,
W. Dobyns,
E. Roberts,
M. Abramowicz,
C. Woods
|
8 |
2010 |
8
🐜
|
|
🐜
|
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
15 auth.
C. Woods,
J. Cox,
K. Springell,
D. Hampshire,
M. Mohamed,
M. Mckibbin,
R. Stern,
F. L. Raymond,
R. Sandford,
Saghira Malik Sharif,
...
G. Karbani,
Mustaq Ahmed,
J. Bond,
D. Clayton,
C. Inglehearn
|
8 |
2006 |
8
🐜
|
|
🐜
|
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
19 auth.
L. Willatt,
J. Cox,
J. Barber,
E. D. Cabanas,
A. Collins,
D. Donnai,
D. FitzPatrick,
E. Maher,
H. Martin,
Josep Parnau,
...
Lesley Pindar,
Jacqueline K. Ramsay,
C. Shaw-Smith,
E. Sistermans,
M. Tettenborn,
D. Trump,
B. D. de Vries,
K. Walker,
F. Raymond
|
7 |
2005 |
7
🐜
|
|
🦁
|
What primary microcephaly can tell us about brain growth.
J. Cox,
A. Jackson,
J. Bond,
C. Woods
|
7 |
2006 |
7
🦁
|
|
🐜
|
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
33 auth.
P. Tarpey,
Josep Parnau,
M. Blow,
H. Woffendin,
G. Bignell,
Charles Cox,
J. Cox,
Helen R Davies,
S. Edkins,
S. Holden,
A. Korny,
U. Mallya,
Jenny Moon,
S. O’Meara,
A. Parker,
...
P. Stephens,
C. Stevens,
J. Teague,
A. Donnelly,
M. Mangelsdorf,
J. Mulley,
M. Partington,
G. Turner,
R. Stevenson,
C. Schwartz,
Ian Young,
D. Easton,
M. Bobrow,
P. Futreal,
M. Stratton,
J. Gécz,
R. Wooster,
F. Raymond
|
7 |
2004 |
7
🐜
|
|
🐜
|
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
16 auth.
C. Woods,
S. Stricker,
P. Seemann,
R. Stern,
J. Cox,
E. Sherridan,
E. Roberts,
K. Springell,
S. Scott,
G. Karbani,
...
S. Sharif,
C. Toomes,
J. Bond,
Dhavendra Kumar,
L. Al-Gazali,
S. Mundlos
|
7 |
2006 |
7
🐜
|
|
🐜
|
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
22 auth.
A. Hackett,
P. Tarpey,
A. Licata,
J. Cox,
A. Whibley,
Jackie Boyle,
Carolyn Rogers,
J. Grigg,
M. Partington,
R. Stevenson,
...
J. Tolmie,
J. Yates,
G. Turner,
Meredith Wilson,
Andrew P Futreal,
M. Corbett,
M. Shaw,
J. Gécz,
F. Raymond,
Michael R. Stratton,
C. Schwartz,
F. Abidi
|
6 |
2010 |
6
🐜
|
|
🐜
|
The molecular landscape of ASPM mutations in primary microcephaly
14 auth.
A. Nicholas,
E. Swanson,
J. Cox,
G. Karbani,
S. Malik,
K. Springell,
D. Hampshire,
Mushtaq Ahmed,
J. Bond,
D. Benedetto,
...
M. Fichera,
C. Romano,
W. Dobyns,
C. Woods
|
6 |
2008 |
6
🐜
|
