G. C. Black

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

D. Evans, A. Read, R. Ramsden, 2002, Journal of medical genetics.

Clinical and genetic variability in children with partial albinism

Katherine R. Smith, J. Clayton-Smith, G. Hall, 2019, Scientific Reports.

3-M syndrome: a growth disorder associated with IGF2 silencing

A. Stevens, D. Hanson, P. Clayton, 2013, Endocrine connections.

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

J. Clayton-Smith, S. Lovell, D. Schorderet, 2015, Investigative ophthalmology & visual science.

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

D. Mackey, R. Newbury-Ecob, A. Markham, 2001, Human molecular genetics.

Molecular findings from 537 individuals with inherited retinal disease

I. C. Lloyd, J. Lamb, S. Daiger, 2016, Journal of Medical Genetics.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Georgina Hall, Christopher Campbell, Rachel L. Taylor, 2017, Ophthalmology.

Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy

N. Mckie, Z. Saihan, J. Rice, 2009, Molecular Vision.