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Author Details

Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
1997
133
41
PMIDPaper TitleJournal TitlePublished Year
36084042Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Hum Mol Genet2023
36084042Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Hum Mol Genet2023
37768732TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.JCI Insight2023
37094557A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.Ophthalmic Res2023
36909829The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.PNAS Nexus2023
36650090A Unique Presentation of Bilateral Chorioretinal Atrophy.Asia Pac J Ophthalmol (Phila)2023
36819107Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.Front Cell Dev Biol2023
37001522In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.Med2023
37164434SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.Klin Monbl Augenheilkd2023
37768732TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.JCI Insight2023
37001522In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.Med2023
37164434SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.Klin Monbl Augenheilkd2023
37094557A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.Ophthalmic Res2023
36819107Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.Front Cell Dev Biol2023
36650090A Unique Presentation of Bilateral Chorioretinal Atrophy.Asia Pac J Ophthalmol (Phila)2023
36909829The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.PNAS Nexus2023
34781300Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.Ophthalmic Res2022
36243009Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.Am J Hum Genet2022
35903041Anisometropia and asymmetric <i>ABCA4</i>-related cone-rod dystrophy.Ophthalmic Genet2022
35946463A new nonsense mutation in <i>HMX1</i> in two siblings with oculoauricular syndrome.Ophthalmic Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35477418A novel phenotype associated with the R162W variant in the <i>KCNJ13</i> gene.Ophthalmic Genet2022
36317447New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.Hum Mutat2022
34469340c.-61G&gt;A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.Cornea2022
34781300Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.Ophthalmic Res2022
34999892Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.Hum Mol Genet2022
35326726Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.Cancers (Basel)2022
35120630Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.Am J Hum Genet2022
35477418A novel phenotype associated with the R162W variant in the <i>KCNJ13</i> gene.Ophthalmic Genet2022
36243009Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.Am J Hum Genet2022
35903041Anisometropia and asymmetric <i>ABCA4</i>-related cone-rod dystrophy.Ophthalmic Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35946463A new nonsense mutation in <i>HMX1</i> in two siblings with oculoauricular syndrome.Ophthalmic Genet2022
36317447New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.Hum Mutat2022
35120630Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.Am J Hum Genet2022
34999892Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.Hum Mol Genet2022
35326726Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.Cancers (Basel)2022
34469340c.-61G&gt;A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.Cornea2022
33300174New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.Hum Mutat2021
33483490AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.Nat Commun2021
33907366Heterozygous deletions of noncoding parts of the <i>PRPF31</i> gene cause retinitis pigmentosa via reduced gene expression.Mol Vis2021
33586135Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.Clin Genet2021
33568816Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.Nature2021
33514863A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.Commun Biol2021
34188062Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.NPJ Genom Med2021
33300174New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.Hum Mutat2021
34573379Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants.Genes (Basel)2021
34588515Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.Sci Rep2021
33907366Heterozygous deletions of noncoding parts of the <i>PRPF31</i> gene cause retinitis pigmentosa via reduced gene expression.Mol Vis2021
33568816Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.Nature2021
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Collaborators

Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 34
Jacques S Beckmann
University of Lausanne
Co-authored papers 14
Paola Benaglio
Co-authored papers 11
Zolt??n Kutalik
University of Lausanne
Co-authored papers 7
Daniele Cusi
Institute of Biomedical Technologies, National Research Council of Italy
Co-authored papers 6
Jian'an Luan
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Caroline Hayward
Co-authored papers 5
Henry V??lzke
Institute for Community Medicine, Ernst Moritz Arndt University
Co-authored papers 5
Iris M Heid
University of Regensburg
Co-authored papers 5
Tõnu Esko
Co-authored papers 5
Andres Metspalu
Co-authored papers 5
Jing Hua Zhao
Co-authored papers 5
Ingrid B Borecki
Co-authored papers 5
Grant W Montgomery
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Nicholas G Martin
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Nicholas J Wareham
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Ruth J F Loos
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Joel N Hirschhorn
Broad Institute of MIT and Harvard
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Tim D Spector
King's College London
Co-authored papers 5
Massimo Mangino
Co-authored papers 5
Thomas W Winkler
Co-authored papers 5
Albert V Smith
University of Michigan School of Public Health ann arbor
Co-authored papers 4
Ulf Gyllensten
Co-authored papers 4
Paul M Ridker
Co-authored papers 4
Anders Hamsten
Co-authored papers 4
Lambertus A Kiemeney
Co-authored papers 4
Pablo V Gejman
Co-authored papers 4
Gabrielle Boucher
Co-authored papers 4
Sven Bergmann
University of Lausanne
Co-authored papers 4
Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 4
Release 1.2