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Genetics

D-Index
59
Citations
12025
World Ranking
3250
National Ranking
68

Overview

Maurizio Genuardi is affiliated with the Catholic University of the Sacred Heart in Italy. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Within these broader domains, Genuardi's work focuses notably on Genetics, Molecular Biology, Pathology and Forensic Medicine, Cancer Research, and Oncology.

Their research topics cover a range of specialized areas, including:

  • Genetic factors in colorectal cancer
  • BRCA gene mutations in cancer
  • Cancer Genomics and Diagnostics
  • Genomics and Rare Diseases
  • CRISPR and Genetic Engineering
  • Genomic variations and chromosomal abnormalities
  • Colorectal Cancer Treatments and Studies

The following recent papers authored or co-authored by Genuardi illustrate their involvement in genetics and oncology research:

  • European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer, 2021, Annals of Oncology
  • Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study, 2021, The Lancet Oncology
  • The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice, 2021, European Journal of Human Genetics
  • Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers, 2020, Genetics in Medicine
  • Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe, 2021, European Journal of Medical Genetics

Genuardi frequently collaborates with several co-authors, including:

  • Emanuela Lucci-Cordisco
  • Stefan Aretz
  • Nicoline Hoogerbrugge
  • Francesca Forzano
  • Carla Oliveíra

The scientist's publications often appear in specialized journals central to genetics and molecular research. Frequent publication venues include:

  • European Journal of Human Genetics
  • Genetics in Medicine
  • Genes
  • ESMO Open
  • European Journal of Medical Genetics

Best Publications

  • Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

    Sharon E. Plon;Diana M. Eccles;Douglas Easton;William D. Foulkes

  • Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

    Pål Møller;Toni T Seppälä;Inge Bernstein;Inge Bernstein;Elke Holinski-Feder

  • Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

    Yvonne M C Hendriks;Anja Wagner;Hans Morreau;Fred Menko

  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

  • Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

  • MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.

    Alfonso Bellacosa;Lucia Cicchillitti;Filippo Schepis;Antonio Riccio

  • The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.

    Antonio Riccio;Lauri A. Aaltonen;Andrew K. Godwin;Anu Loukola

  • Biphasic Kinetics of the Human DNA Repair Protein MED1 (MBD4), a Mismatch-specific DNA N-Glycosylase

    Fiorella Petronzelli;Fiorella Petronzelli;Antonio Riccio;George D. Markham;Steven H. Seeholzer

  • Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

    Roberta Sestini;Costanza Bacci;Aldesia Provenzano;Maurizio Genuardi

  • A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

    Alessandra Viel;Alessandro Bruselles;Ettore Meccia;Mara Fornasarig

  • Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study

    Nicoletta Resta;Daniela Pierannunzio;Gennaro Mariano Lenato;Alessandro Stella

  • Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

    Mia M. Gaudet;Karoline B. Kuchenbaecker;Joseph Vijai;Robert J. Klein

  • Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

    Pål Møller;Toni Seppälä;Inge Bernstein;Inge Bernstein;Elke Holinski-Feder

  • Fine mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q21.3-q22.1

    Stephen W. Scherer;Parvoneh Poorkaj;Todd Allen;Julia Kim

  • Maternal-Fetal Flow, Negative Events, and Preeclampsia. Role of ACE I/D Polymorphism

    Giorgio Mello;Elena Parretti;Francesca Gensini;Elena Sticchi

  • A new point mutation of the prion protein gene in Creutzfeldt‐Jakob disease

    Maurizio Pocchiari;Mirella Salvatore;Francesca Cutruzzolá;Maurizio Genuardi

  • Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study

    Antonio Percesepe;Francesca Borghi;Mirco Menigatti;Lorena Losi

  • Investigation of the substrate spectrum of the human mismatch-specific DNA N-glycosylase MED1 (MBD4): fundamental role of the catalytic domain.

    Fiorella Petronzelli;Fiorella Petronzelli;Antonio Riccio;George D. Markham;Steven H. Seeholzer

  • Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects.

    Alfonso Bellacosa;Maurizio Genuardi;Marcello Anti;Alessandra Viel

  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Mitra N Rebbeck Tr;F Wan;Maurizio Genuardi

Frequent Co-Authors

Giovanni Neri
Giovanni Neri Catholic University of the Sacred Heart
Alessandra Viel
Alessandra Viel Centro di Riferimento Oncologico
Laura Papi
Laura Papi University of Florence
Marcella Zollino
Marcella Zollino Catholic University of the Sacred Heart
Rolf H. Sijmons
Rolf H. Sijmons University of Groningen
Paolo Radice
Paolo Radice Fondazione IRCCS Istituto Nazionale dei Tumori
Amanda B. Spurdle
Amanda B. Spurdle QIMR Berghofer Medical Research Institute
Juul T. Wijnen
Juul T. Wijnen Leiden University Medical Center
John Burn
John Burn Newcastle University
Pål Møller
Pål Møller Oslo University Hospital

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