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Genetics

D-Index
58
Citations
19027
World Ranking
3298
National Ranking
52

Overview

Carlo Rivolta is affiliated with the University of Basel in Switzerland and has contributed extensively to the fields of biochemistry, genetics, molecular biology, and medicine. Their research spans a broad range of topics with a focus on retinal development, disorders, and treatments, as well as RNA regulation, genetic engineering, and genomics related to rare diseases.

The primary fields of study for Rivolta include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these, they have a more specific focus on subfields such as:

  • Molecular Biology
  • Genetics
  • Ophthalmology
  • Cell Biology
  • Immunology

The main research topics covered in their work are:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • RNA regulation and disease
  • CRISPR and Genetic Engineering
  • Genomics and Rare Diseases
  • Genetic and Kidney Cyst Diseases
  • Ocular Disorders and Treatments

Rivolta's frequent publication venues reflect their concentration in genetics and ophthalmology, including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Ophthalmic Research
  • Scientific Reports
  • Human Mutation

Among their recent scientific papers are:

  • "Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases" (2020), published in Proceedings of the National Academy of Sciences
  • "AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data" (2021), published in Nature Communications
  • "Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications" (2021), published in Scientific Reports
  • "Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator" (2021), published in Nature
  • "Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa" (2020), published in The American Journal of Human Genetics

Their frequent co-authors include:

  • Mathieu Quinodoz
  • Karolina Kamińska
  • Elfride De Baere
  • Virginie G. Peter
  • Francesca Cancellieri

Best Publications

  • The complete genome sequence of the Gram-positive bacterium Bacillus subtilis

    F. Kunst;N. Ogasawara;I. Moszer;A. M. Albertini

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    Hana Lango Allen;Karol Estrada;Guillaume Lettre;Sonja I. Berndt

  • Essential Bacillus subtilis genes

    K. Kobayashi;S.D. Ehrlich;A. Albertini;G. Amati

  • The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

    Thomas W. Winkler;Anne E. Justice;Mariaelisa Graff;Llilda Barata

  • Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

    Joshua C. Randall;Joshua C. Randall;Thomas W. Winkler;Zoltán Kutalik;Zoltán Kutalik;Sonja I. Berndt

  • Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

    Carlo Rivolta;Dror Sharon;Margaret M. DeAngelis;Thaddeus P. Dryja

  • Genetic evidence of assortative mating in humans

    Matthew R. Robinson;Aaron Kleinman;Mariaelisa Graff;Anna A.E. Vinkhuyzen

  • The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

    Toshiyuki Fukada;Natacha Civic;Tatsuya Furuichi;Shinji Shimoda

  • Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

    Carlo Rivolta;Elizabeth A. Sweklo;Eliot L. Berson;Thaddeus P. Dryja

  • A NOVEL PROTEIN KINASE THAT CONTROLS CARBON CATABOLITE REPRESSION IN BACTERIA

    Jonathan Reizer;Christian Hoischen;Friedrich Titgemeyer;Carlo Rivolta

  • Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

    Mor Hanany;Carlo Rivolta;Dror Sharon

  • Genomewide Association Study Using a High-Density Single Nucleotide Polymorphism Array and Case-Control Design Identifies a Novel Essential Hypertension Susceptibility Locus in the Promoter Region of Endothelial NO Synthase

    Erika Salvi;Zoltán Kutalik;Nicola Glorioso;Paola Benaglio

  • Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing

    Beryl Royer-Bertrand;Matteo Torsello;Donata Rimoldi;Ikram El Zaoui

  • PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

    Goranka Tanackovic;Adriana Ransijn;Philippe Thibault;Sherif Abou Elela

  • Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function

    Xuejiao Wang;Siqun Xu;Carlo Rivolta;Lili Y. Li

  • NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    Clara D M van Karnebeek;Luisa Bonafé;Xiao-Yan Wen;Xiao-Yan Wen;Maja Tarailo-Graovac

  • Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

    Babak Jian Seyedahmadi;Carlo Rivolta;Julia A. Keene;Eliot L. Berson

  • Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

    Carlo Rivolta;Terri L. McGee;Thomas Rio Frio;Roderick V. Jensen;Roderick V. Jensen

  • Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

    Joshua C. Randall;Thomas W. Winkler;Zoltan Kutalik;Sonja I. Berndt

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    H. Lango Allen;K. Estrada;G. Lettre;S. I. Berndt

Frequent Co-Authors

Jacques S. Beckmann
Jacques S. Beckmann University of Lausanne
Eliot L. Berson
Eliot L. Berson Massachusetts Eye and Ear Infirmary
Andrea Superti-Furga
Andrea Superti-Furga University of Lausanne
Zoltán Kutalik
Zoltán Kutalik University of Lausanne
Toby Johnson
Toby Johnson Queen Mary University of London
Joel N. Hirschhorn
Joel N. Hirschhorn Boston Children's Hospital
Markus Perola
Markus Perola Finnish Institute for Health and Welfare
Inês Barroso
Inês Barroso University of Exeter
Sekar Kathiresan
Sekar Kathiresan Harvard University
Unnur Thorsteinsdottir
Unnur Thorsteinsdottir deCODE Genetics (Iceland)

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