Josseline Kaplan

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin et al. · Nature Genetics · 2000 · 1.4K citations

Neurodegenerative Diseases, Mitochondrial Function, Ophthalmology +9

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

Mendelian Disorder, Genetic Disorder, Genetics +3

Illegitimate transcription: transcription of any gene in any cell type.

Jamel Chelly, Jean‐Paul Concordet, Josseline Kaplan et al. · Proceedings of the National Academy of Sciences · 1989 · 638 citations · Full text

Vitro Amplification, Transcriptional Regulation, Systems Biology +12

International Committee for Standardization in Haematology: Recommended Methods for Red‐Cell Enzyme Analysis*

Ernest Beutler, Karl G. Blume, Josseline Kaplan et al. · British Journal of Haematology · 1977 · 539 citations · Full text

British Journal, Laboratory Hematology, International Committee +13

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 443 citations

Ocular Disease, Retina, Mendelian Disorder +5