Publications

Peer-reviewed papers by Luigi Corsaro, PhD
Clinical genomics and epigenomics · EWAS and stochastic epimutation · each entry links to its DOI

Peer-reviewed papers

Seven peer-reviewed publications (two as first author), 2020 to 2025. Full record on ORCID and Google Scholar.

Case Report: Deciphering the Clinical Significance of a Novel Partial BRCA1 Exon 10 Duplication in a Patient with Triple-Negative Breast Cancer

Frontiers in Oncology · 2025 · Faversani, Manuelli, … Corsaro, … Costantino

A clinical characterization of a novel partial BRCA1 exon 10 duplication in a triple-negative breast cancer patient, resolving its pathogenic significance.

BRCA1TNBCclinical genomics

Notch, SUMOylation, and ESR-Mediated Signalling Are the Main Molecular Pathways Showing Significantly Different Epimutation Scores between ER-Expressing and Non-Expressing Breast Cancer in Three Public EWAS Datasets

First author · Cancers · 2023 · Corsaro, Gentilini, Calzari, Gambino

A stochastic-epimutation analysis across three public EWAS datasets, identifying Notch, SUMOylation and ESR signalling as the pathways that most distinguish oestrogen-receptor status in breast cancer.

EWASepimutationbreast cancer

A New Approach to Study Stochastic Epigenetic Mutations in Sperm Methylome of Vietnam War Veterans Directly Exposed to Agent Orange

First author · Environmental Epigenetics · 2024 · Corsaro, Sacco, Corbetta, Gentilini, …

An application of stochastic epigenetic mutation analysis to the sperm methylome of directly exposed Vietnam War veterans, introducing a new methodological approach for environmental-exposure epigenetics.

SEMsperm methylomeexposure

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum

Genes · 2024 · Santaniello, Faversani, Corsaro, … Costantino

A molecular characterization of a novel ARHGAP31 variant likely implicated in Adams-Oliver syndrome across a family with a variable phenotype.

ARHGAP31variantrare disease

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

Int. J. Molecular Sciences · 2021 · Guida, Calzari, … Corsaro, … Gentilini

A genome-wide methylation profiling of 41 OAVS patients, characterizing the epigenetic landscape of the spectrum.

DNA methylationOAVS

Extensive Placental Methylation Profiling in Normal Pregnancies

Int. J. Molecular Sciences · 2021 · Rondinone, Murgia, … Corsaro, … Miozzo

A comprehensive DNA-methylation profiling of the placenta in normal pregnancies, establishing a reference methylome.

DNA methylationplacenta

Epigenome-Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth

Int. J. Molecular Sciences · 2020 · Spada, Calzari, Corsaro, … Gentilini

An EWAS and stochastic-epimutation analysis on cord blood, linking epigenetic signatures to preterm birth.

EWASpreterm birthcord blood

Thesis and software

SEMseeker: An R Package for Conducting Epigenome-Wide Association Studies Based on Stochastic Epimutation

PhD thesis · Università degli Studi di Pavia · 2025

A doctoral thesis presenting the SEMseeker methodology and R package. Persistent identifier hdl:11571/1518135; software archived at Zenodo DOI 10.5281/zenodo.5095416.

PhDSEMseekerR package