World's Best Scientists 2026 revealed!
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Genetics
Italy
2026

D-Index & Metrics

Genetics

D-Index
99
Citations
38885
World Ranking
778
National Ranking
9

Medicine

D-Index
100
Citations
39575
World Ranking
8243
National Ranking
273

Research.com Recognitions

  • 2026 - Research.com Genetics in Italy Leader Award
  • 2025 - Research.com Genetics in Italy Leader Award
  • 2024 - Research.com Genetics in Italy Leader Award
  • 2023 - Research.com Genetics in Italy Leader Award
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)

Overview

Daniela Toniolo is affiliated with the Vita-Salute San Raffaele University in Italy. Their research spans multiple fields of study, primarily focusing on Medicine and Biochemistry, Genetics and Molecular Biology. Subfields within their work include Genetics, Pathology and Forensic Medicine, Molecular Biology, Hematology, and Cell Biology.

The scientist's recent research topics cover areas such as:

  • Acute Myeloid Leukemia Research
  • Myeloproliferative Neoplasms: Diagnosis and Treatment
  • Lymphoma Diagnosis and Treatment
  • Melanin and Skin Pigmentation
  • Biochemical Analysis and Sensing Techniques
  • Skin Protection and Aging
  • Genetic Associations and Epidemiology

Recent published papers include:

  • Relationship between clone metrics and clinical outcome in clonal cytopenia, 2021, Blood
  • Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color, 2021, Science Advances
  • Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals, 2022, Communications Biology
  • Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency, 2021, Human Reproduction
  • A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility, 2022, Genes

Frequent co-authors collaborating with Daniela Toniolo include:

  • Paolo Gasparini
  • Eulalia Catamo
  • Cinzia Sala
  • Massimiliano Cocca
  • Cornelia M. van Duijn

The scientist's work has been published repeatedly in venues such as UNC Libraries, Blood, Science Advances, Communications Biology, and Human Reproduction.

Daniela Toniolo is recognized as a member of the European Molecular Biology Organization (EMBO).

Best Publications

  • A reference panel of 64,976 haplotypes for genotype imputation

    Shane McCarthy;Sayantan Das;Warren Kretzschmar;Olivier Delaneau

  • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

    Gisèle Bonne;M R Di Barletta;S Varnous;H M Bécane

  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

    Evangelos Evangelou;Evangelos Evangelou;Helen R. Warren;Helen R. Warren;David Mosen-Ansorena;Borbala Mifsud

  • Modulation of genetic associations with serum urate levels by body-mass-index in humans

    Jennifer E. Huffman;Eva Albrecht;Alexander Teumer;Massimo Mangino

  • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

    Silvia Bione;Elena Maestrini;Stefano Rivella;Mita Mancini

  • Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

    Anna Köttgen;Anna Köttgen;Eva Albrecht;Alexander Teumer;Veronique Vitart

  • A novel X-linked gene, G4.5. is responsible for Barth syndrome

    Silvia Bione;Patrizia D'Adamo;Elena Maestrini;Agi K. Gedeon

  • A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness

    Jared O'Connell;Deepti Gurdasani;Olivier Delaneau;Nicola Pirastu

  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

    Felix R. Day;Deborah J. Thompson;Hannes Helgason;Hannes Helgason;Daniel I. Chasman

  • Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

    Cathy E. Elks;John R B Perry;Patrick Sulem;Daniel I. Chasman

  • Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

    Helen R Warren;Evangelos Evangelou;Evangelos Evangelou;Claudia P Cabrera;He Gao

  • Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

    Bonne G;Mercuri E;Muchir A;Urtizberea A

  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

    Cristian Pattaro;Alexander Teumer;Mathias Gorski;Audrey Y. Chu

  • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

    Louise V. Wain;Germaine C. Verwoert;Paul F. O'Reilly;Gang Shi

  • Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

    Marina Raffaele di Barletta;Enzo Ricci;Giuliana Galluzzi;Pietro Tonali

  • New gene functions in megakaryopoiesis and platelet formation

    Christian Gieger;Aparna Radhakrishnan;Ana Cvejic;Weihong Tang

  • Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

    Felix R. Day;Katherine S. Ruth;Deborah J Thompson;Kathryn L. Lunetta

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

    Beben Benyamin;Tonu Esko;Janina S. Ried;Aparna Radhakrishnan

  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

    Evangelos Evangelou;Helen R. Warren;David Mosen-Ansorena;Borbala Mifsu

Frequent Co-Authors

Cinzia Sala
Cinzia Sala Vita-Salute San Raffaele University
Paolo Gasparini
Paolo Gasparini University of Trieste
Tonu Esko
Tonu Esko University of Tartu
André G. Uitterlinden
André G. Uitterlinden Erasmus University Rotterdam
Andres Metspalu
Andres Metspalu University of Tartu
Albert Hofman
Albert Hofman Harvard University
Nicole Soranzo
Nicole Soranzo Wellcome Sanger Institute
Zoltán Kutalik
Zoltán Kutalik University of Lausanne
James F. Wilson
James F. Wilson University of Edinburgh
Tim D. Spector
Tim D. Spector King's College London

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