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Konstantinos Nikopoulos

University of Lausanne

35

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945

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CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

2021 eLife
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Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.

2020 Ophthalmology and therapy
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

2020 Human Mutation
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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

2019 Ophthalmic Genetics
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

2019 Nature Communications
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Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

2019 Investigative Ophthalmology & Visual Science
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Frequent variants in the Japanese population determine quasi-Mendelian inheritance of rare retinal ciliopathy

2018 bioRxiv
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Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

2016 PLOS ONE
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Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.

2016 Investigative Ophthalmology & Visual Science
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Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy

2016 Investigative Ophthalmology & Visual Science
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