Ramon A.C. Huet

Novel compound heterozygous NMNAT 1 variants associated with Leber congenital amaurosis

Frans, Susanne, B. J. Klevering, 2017 .

Next Generation Genetic Testing for Retinitis Pigmentosa

B. J. Klevering, A. Hoischen, J. Veltman, 2013 .

Retina Clinical Characteristics of Rod and Cone Photoreceptor Dystrophies in Patients With Mutations in the C 8 orf 37 Gene

B. J. Klevering, C. Hoyng, Y. Rotenstreich, 2013 .

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

B. J. Klevering, F. Riemslag, C. Hoyng, 2015, Acta ophthalmologica.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

B. J. Klevering, J. Veltman, A. D. den Hollander, 2012, American journal of human genetics.