A. Spencer

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.

Emma M Wade, G. Black, J. Urquhart, 2011, Investigative ophthalmology & visual science.

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

K. Stephens, P. Ehrlich, M. Weaver, 1997, The Journal of investigative dermatology.

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.

K. Stephens, P. Ehrlich, V. Sybert, 1995, The Journal of investigative dermatology.

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

J. Rosenfeld, B. Torchia, L. Shaffer, 2010, PloS one.