Konstantinos Nikopoulos

Union Bank of Switzerland — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index1.5kcitations44works0.02yr avg
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Research Topics

Retinal Development and Disorders(17), Ubiquitin and proteasome pathways(7), Retinal and Macular Surgery(7), Genetic and Kidney Cyst Diseases(7), Retinal Diseases and Treatments(6)

Publications44 total

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Frontiers in Cell and Developmental Biology·2023· 26 citedOpen Access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
2022· 2 citedOpen Access
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels
eLife·2021· 43 citedOpen Access
Author response: CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels
2021· 1 citedOpen Access
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels
2020· 2 citedOpen Access
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
Ophthalmology and Therapy·2020· 5 citedOpen Access
Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Human Mutation·2020· 22 citedOpen Access
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
Nature Communications·2019· 38 citedOpen Access
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the<i>RP1</i>Gene: Extending the<i>RP1</i>Disease Spectrum
Investigative Ophthalmology & Visual Science·2019· 34 citedOpen Access
A novel missense variant in <i>IDH3A</i> causes autosomal recessive retinitis pigmentosa
Ophthalmic Genetics·2019· 16 cited
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
2018· 4 citedOpen Access
Whole exome screening and identification of novel variants in a cohort of 28 Greek and Swedish families with cone-rod dystrophy.
Investigative Ophthalmology & Visual Science·2016Open Access
Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophy
Investigative Ophthalmology & Visual Science·2016· 1 citedOpen Access
Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.
Investigative Ophthalmology & Visual Science·2016Open Access
Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy
Investigative Ophthalmology & Visual Science·2016Open Access
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
The American Journal of Human Genetics·2016· 57 citedOpen Access
Mutations in the polyglutamylase gene<i>TTLL5</i>, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
Human Molecular Genetics·2016· 35 citedOpen Access
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination
The American Journal of Human Genetics·2016· 49 citedOpen Access
Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
PLoS ONE·2016· 4 citedOpen Access
Acute Pancreatitis as the Initial Manifestation of an Adenocarcinoma of the Major Duodenal Papilla in a Patient with Familial Adenomatous Polyposis Syndrome
Acta Chirurgica Belgica·2016
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Frequent Co-authors

Carlo Rivolta(26), Frans P.M. Cremers(15), Pietro Farinelli(15), Carmen Ayuso(8), Koji M. Nishiguchi(8), Sten Andréasson(7), Mathieu Quinodoz(7), Christian Gilissen(6), Alexander Hoischen(6), C. E. van Nouhuys(6), F. Nienke Boonstra(6), Arijit Mukhopadhyay(6), Rob W.J. Collin(6), Marta Cortón(6), Almudena Ávila‐Fernández(6), Béryl Royer‐Bertrand(6), Carmel Toomes(5), Carel B. Hoyng(5), Nicola Bedoni(5), Muhammad Imran Khan(5)