J. Cox

发表

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2004, American journal of human genetics.

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Mustaq Ahmed, F Lucy Raymond, Martin McKibbin, 2006, American journal of human genetics.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

M. Shaw, J. Gécz, M. Stratton, 2010, European Journal of Human Genetics.

A SOX9 duplication and familial 46,XX developmental testicular disorder.

C. Woods, L. Willatt, J. Cox, 2011, New England Journal of Medicine.

Cloning, genomic organization, alternative splicing and expression analysis of the human gene WNK3 (PRKWNK3).

J. Cox, S. Holden, F. L. Raymond, 2004, Gene.

Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

J. Hodges, S. O’Rahilly, G. Yeo, 2006, Diabetes.

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

C. Woods, J. Cox, S. Holden, 2006, Journal of Medical Genetics.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

B. D. de Vries, A. Collins, J. Barber, 2005, American journal of human genetics.

What primary microcephaly can tell us about brain growth.

C. Woods, J. Bond, J. Cox, 2006, Trends in molecular medicine.

The molecular landscape of ASPM mutations in primary microcephaly

M. Fichera, C. Romano, C. Woods, 2008, Journal of Medical Genetics.

Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation

J. Cox, S. Holden, F. Raymond, 2003, Journal of medical genetics.

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

S. Schiffmann, C. Woods, S. Schurmans, 2009, Nature Genetics.

WDR62 is associated with the spindle pole and is mutated in human microcephaly

C. Woods, F. Gergely, S. Lindsay, 2010, Nature Genetics.

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

S. Mundlos, C. Woods, J. Bond, 2006, American journal of human genetics.

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

S. Schiffmann, S. Schurmans, F. Gergely, 2009, Nature Genetics.

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

C. Woods, J. Cox, N. Thomas, 2006, Journal of Medical Genetics.