Concetta Santonocito

Gemelli Science And Technology Park
Rome, 00168, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Journal: Genes

Published: September 30, 2025

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

Journal: Molecular biology reports

Published: June 04, 2024

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.

Journal: Genes

Published: July 22, 2023

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.

Journal: Genes

Published: May 25, 2023

A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing.

A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing.

Journal: Genes

Published: October 11, 2022

Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine.

Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine.

Journal: Frontiers in oncology

Published: September 24, 2022

BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making.

BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making.

Journal: Cancers

Published: July 31, 2022

Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation.

Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation.

Journal: Molecular biology reports

Published: August 17, 2021

Let-7a-5p, miR-100-5p, miR-101-3p, and miR-199a-3p Hyperexpression as Potential Predictive Biomarkers in Early Breast Cancer Patients.

Let-7a-5p, miR-100-5p, miR-101-3p, and miR-199a-3p Hyperexpression as Potential Predictive Biomarkers in Early Breast Cancer Patients.

Journal: Journal of personalized medicine

Published: May 16, 2021

BRCA testing delay during the COVID-19 pandemic: How to act?

BRCA testing delay during the COVID-19 pandemic: How to act?

Journal: Molecular biology reports

Published: October 30, 2020

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic.

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic.

Journal: Molecular biology reports

Published: April 08, 2020

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Journal: Cancers

Published: April 07, 2020

Showing 1-12 of 28

Last Updated: 09/26/2026