S. Scott

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

C. Woods, G. Taylor, R. Newbury-Ecob, 2005, Journal of Medical 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.

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Hussain Jafri, Emma Roberts, Sheila Scott, 2005, Nature Genetics.

ASPM is a major determinant of cerebral cortical size

Alexander F. Markham, Emma Roberts, Christopher A. Walsh, 2002, Nature Genetics.

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Kang Zhang, David A Mackey, Carmel Toomes, 2004, Investigative ophthalmology & visual science.

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Richard C Trembath, Carmel Toomes, Helen M Bottomley, 2004, Molecular vision.

Protein-truncating mutations in ASPM cause variable reduction in brain size.

C. Walsh, R. Hennekam, C. Woods, 2003, American journal of human genetics.

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Michael J Parker, Li Jiang, Richard Trembath, 2004, American journal of human genetics.

Polymorphisms in OPA 1 are associated with normal tension glaucoma

C. Inglehearn, C. Toomes, P. Spry, 2003 .