Giulia Pianigiani

Trieste, 34149, Italy

Last Updated: 09/26/2026

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Found 31 publications

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

Journal: Genes

Published: June 11, 2026

Discovery of gene-alcohol interaction loci influencing blood pressure in 1.1 million individuals from multiple populations.

Discovery of gene-alcohol interaction loci influencing blood pressure in 1.1 million individuals from multiple populations.

Journal: Research square

Published: April 10, 2026

Discovery of gene-alcohol interaction loci influencing blood pressure in 1.1 million individuals from multiple populations.

Discovery of gene-alcohol interaction loci influencing blood pressure in 1.1 million individuals from multiple populations.

Journal: Research square

Published: April 10, 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

Hacking Extracellular Vesicles: Using Vesicle-Related Tags to Engineer Mesenchymal Stromal Cell-Derived Extracellular Vesicles.

Hacking Extracellular Vesicles: Using Vesicle-Related Tags to Engineer Mesenchymal Stromal Cell-Derived Extracellular Vesicles.

Journal: Pharmaceutics

Published: August 05, 2025

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.

Journal: Biomedicines

Published: August 05, 2025

Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI.

Variability of transposable elements in six genetic isolates from North-Eastern Italy and their relationship with alcohol consumption, tobacco use and BMI.

Journal: BMC genomics

Published: July 05, 2025

A novel spliceosomopathy caused by de novo SF3B3 variants.

A novel spliceosomopathy caused by de novo SF3B3 variants.

Journal: Genome medicine

Published: April 26, 2025

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts.

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts.

Journal: Frontiers in genetics

Published: November 04, 2024

Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants.

Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants.

Journal: Journal of the American Heart Association

Published: August 29, 2024

Mutant NPM1 marginally impacts ribosome footprint in acute myeloid leukemia cells.

Mutant NPM1 marginally impacts ribosome footprint in acute myeloid leukemia cells.

Journal: EJHaem

Published: July 25, 2024

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Journal: Nature genetics

Published: July 09, 2024

Showing 1-12 of 31

Last Updated: 09/26/2026