Irene Bottillo

Rome, Italy

Last Updated: 09/26/2026

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Found 61 publications

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

Journal: Research square

Published: May 25, 2026

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.

Journal: Research square

Published: May 25, 2026

A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.

A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.

Journal: Clinical genetics

Published: October 28, 2025

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Journal: Clinical genetics

Published: May 26, 2025

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.

Journal: BMC medical genomics

Published: May 25, 2025

ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'.

ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'.

Journal: European heart journal supplements : journal of the European Society of Cardiology

Published: May 19, 2025

Padlock Assay in Transthyretin Amyloidosis: A Feasibility Study.

Padlock Assay in Transthyretin Amyloidosis: A Feasibility Study.

Journal: Current gene therapy

Published: May 05, 2025

ANMCO Position paper: Hypertrophic cardiomyopathy: from diagnosis to treatment

ANMCO Position paper: Hypertrophic cardiomyopathy: from diagnosis to treatment

Journal: Giornale italiano di cardiologia (2006)

Published: April 28, 2025

Evolution of Neo-RAS-WT in Circulating Tumor DNA from First-Line to Subsequent Therapies in Metastatic Colorectal Cancer.

Evolution of Neo-RAS-WT in Circulating Tumor DNA from First-Line to Subsequent Therapies in Metastatic Colorectal Cancer.

Journal: Cancers

Published: January 28, 2025

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental Design.

Early Detection of the Pathogenetic Variants of Homologous Recombination Repair Genes in Prostate Cancer: Critical Analysis and Experimental Design.

Journal: Biology

Published: December 01, 2024

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Showing 1-12 of 61

Last Updated: 09/26/2026