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.

Comparison of LC-MS/MS and CLIA Methods for Vitamin D Measurement in an Unselected Outpatient Cohort: Statistical Evaluation and Impact on Clinical Classification

Co-first author · Diagnostics · 2026 · Corbetta, Corsaro, Caradonna, Rusconi, … de Grazia

A method comparison between liquid chromatography-tandem mass spectrometry and chemiluminescent immunoassay for vitamin D, quantifying how the choice of assay shifts patients across the clinical decision thresholds for deficiency and insufficiency.

method comparisonvitamin Dclinical chemistrybiostatistics

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