Domizia Pasquetti

Trieste, 34137, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Reply to Small, K.W. Comment on "Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication. Biomedicines 2025, 13, 1904".

Reply to Small, K.W. Comment on "Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication. Biomedicines 2025, 13, 1904".

Journal: Biomedicines

Published: April 29, 2026

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Journal: Genes

Published: August 06, 2025

Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication.

Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication.

Journal: Biomedicines

Published: May 29, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Lifestyle and environmental factors in women carrying BRCA pathogenic variants with and without cancer.

Lifestyle and environmental factors in women carrying BRCA pathogenic variants with and without cancer.

Journal: JNCI cancer spectrum

Published: April 10, 2025

Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review.

Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review.

Journal: Genes

Published: December 13, 2024

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Journal: European journal of human genetics : EJHG

Published: July 12, 2024

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

Journal: Genes & diseases

Published: July 03, 2024

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Journal: International journal of molecular sciences

Published: November 27, 2023

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Journal: Clinical genetics

Published: June 08, 2023

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Journal: Genes

Published: December 09, 2022

Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.

Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.

Journal: Neurology

Published: April 05, 2022

Showing 1-12 of 12

Last Updated: 09/26/2026