Cristina Peconi

Rome, 00179, Italy

Last Updated: 09/26/2026

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Found 25 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

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

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

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.

Journal: Frontiers in neurology
Published: August 28, 2023

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.

Journal: Genes
Published: July 24, 2023

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.

Journal: Genes
Published: July 13, 2023

Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.

Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.

Journal: Journal of personalized medicine
Published: August 09, 2022
Showing 1-12 of 25

Last Updated: 09/26/2026