Stefania Zampatti

Is
Pozzilli, 86077, Italy

Last Updated: 09/26/2026

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Found 56 publications

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.

Journal: Genes

Published: May 27, 2026

Pharmacogenetics or predictive genetics? APOE testing blurs the lines.

Pharmacogenetics or predictive genetics? APOE testing blurs the lines.

Journal: Frontiers in pharmacology

Published: May 12, 2025

BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant.

BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant.

Journal: Cancers

Published: May 12, 2025

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Journal: Biomedicines

Published: April 28, 2025

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

Journal: Journal of medical genetics

Published: March 25, 2025

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Journal: Genes

Published: December 03, 2024

Federated Learning: Breaking Down Barriers in Global Genomic Research.

Federated Learning: Breaking Down Barriers in Global Genomic Research.

Journal: Genes

Published: December 02, 2024

Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.

Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.

Journal: Diagnostics (Basel, Switzerland)

Published: November 27, 2024

The Revolution of Genetic Diagnosis: An Example from Rare Disorders.

The Revolution of Genetic Diagnosis: An Example from Rare Disorders.

Journal: Genes

Published: September 30, 2024

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Journal: Genes

Published: August 01, 2024

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Journal: Clinical epigenetics

Published: June 18, 2024

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

Journal: Genes

Published: February 29, 2024

Showing 1-12 of 56

Last Updated: 09/26/2026