Mary Porteous

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Mads Thomassen, Nina Ditsch, Muhammad Usman Rashid, 2015, JAMA.

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

C. Hayward, M. Porteous, D. Brock, 1994, Molecular and cellular probes.

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland

D. Goudie, M. Porteous, M. Denvir, 2007, Heart.

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

M. Porteous, D. Brock, L. Barron, 1993, Journal of medical genetics.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

A. Whittemore, F. Couch, B. Bonanni, 2015 .

A randomised controlled trial of a psychoeducational intervention for women at increased risk of breast cancer

M. Porteous, M. Watson, R. Rush, 2004, British Journal of Cancer.

Renpenning syndrome comes into focus

R. Stevenson, C. Schwartz, H. Lubs, 2005, American journal of medical genetics. Part A.

Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland

S. Pal, J. Newton, G. Gorrie, 2024, Journal of neurology.