Dopachrome tautomerase variants in patients with oculocutaneous albinism

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans

Rebecca L. Lamason, Manzoor-Ali P.K. Mohideen, Jason R. Mest et al. · Science · 2005 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +15

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

Mervyn G. Thomas, Anil Kumar, Sarim Mohammad et al. · Ophthalmology · 2011 · 428 citations

Health Professions, Ophthalmology, Vision Science +12

A second tyrosinase‐related protein, TRP‐2, maps to and is mutated at the mouse slaty locus.

Ian J. Jackson, D. Chambers, Katsuhiko Tsukamoto et al. · The EMBO Journal · 1992 · 324 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina

Sophie Raymond, Ian J. Jackson · Current Biology · 1995 · 224 citations · Full text

Medicine, Developmental Biology, Neurobiology +14