Vasily Smirnov

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Helen J. Kuht, Gail Maconachie, Jinu Han et al. · Ophthalmology · 2022 · 72 citations · Full text

Medicine, Genetics, Ophthalmology +17

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Majida Charif, Arnaud Chevrollier, Naïg Guéguen et al. · Neurology Genetics · 2020 · 52 citations · Full text

Life Sciences, Genetics, Neurology +17

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif et al. · Brain · 2022 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

Gaël Manès, Willy Joly, Thomas Guignard et al. · Human Molecular Genetics · 2017 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik et al. · International Journal of Molecular Sciences · 2022 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16