Barbara J. Pasini

Turin, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 73 publications

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal: Journal of medical genetics

Published: April 17, 2026

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Journal: Scientific reports

Published: December 16, 2025

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Journal: Human genetics

Published: November 21, 2025

From Tissue Architecture To Genetic Signature: Artificial intelligence-based Analysis of Reticulin Framework and Clinical Variables Predicts Molecular Cluster in Paragangliomas.

From Tissue Architecture To Genetic Signature: Artificial intelligence-based Analysis of Reticulin Framework and Clinical Variables Predicts Molecular Cluster in Paragangliomas.

Journal: Endocrine pathology

Published: October 31, 2025

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Journal: Diseases (Basel, Switzerland)

Published: April 14, 2025

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

Journal: Parkinsonism & related disorders

Published: December 10, 2024

Prevalence of Hyperkalemia and Familial Hyperkalemic Hypertension in 5100 Patients Referred to a Tertiary Hypertension Unit.

Prevalence of Hyperkalemia and Familial Hyperkalemic Hypertension in 5100 Patients Referred to a Tertiary Hypertension Unit.

Journal: Hypertension (Dallas, Tex. : 1979)

Published: September 04, 2024

The Impact of the G6PD Gene Mutations in Patients with Chronic Hepatitis C Infection Treated with Direct-Acting Antivirals: A Multicenter Observational Study.

The Impact of the G6PD Gene Mutations in Patients with Chronic Hepatitis C Infection Treated with Direct-Acting Antivirals: A Multicenter Observational Study.

Journal: Genes

Published: July 22, 2024

MULTIMODAL IMAGING OF A NOVEL MFSD8/CLN7 MUTATION ASSOCIATED WITH NONSYNDROMIC SYMMETRIC ADULT-ONSET MACULAR DYSTROPHY.

MULTIMODAL IMAGING OF A NOVEL MFSD8/CLN7 MUTATION ASSOCIATED WITH NONSYNDROMIC SYMMETRIC ADULT-ONSET MACULAR DYSTROPHY.

Journal: Retinal cases & brief reports

Published: February 27, 2024

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

Journal: Cancer medicine

Published: February 23, 2024

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Journal: HGG advances

Published: December 06, 2023

Identification of a robust DNA methylation signature for Fanconi anemia.

Identification of a robust DNA methylation signature for Fanconi anemia.

Journal: American journal of human genetics

Published: June 29, 2023

Showing 1-12 of 73

Last Updated: 09/26/2026