Giorgia G. Girotto

Trieste, Italy

Last Updated: 09/26/2026

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Found 145 publications

Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry.

Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry.

Journal: Circulation. Genomic and precision medicine
Published: July 08, 2026

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

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

Presbycusis Across the Lifespan: Genetic, Molecular, and Multi-Omics Contributions.

Presbycusis Across the Lifespan: Genetic, Molecular, and Multi-Omics Contributions.

Journal: Audiology research
Published: April 13, 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

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus.

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus.

Journal: medRxiv : the preprint server for health sciences
Published: December 11, 2025

Lactobacillus iners dominates the vaginal microbiota of healthy Italian women of reproductive age.

Lactobacillus iners dominates the vaginal microbiota of healthy Italian women of reproductive age.

Journal: mSystems
Published: November 25, 2025

Association of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes.

Association of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes.

Journal: International journal of molecular sciences
Published: November 02, 2025

A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic Isolates.

A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic Isolates.

Journal: International journal of molecular sciences
Published: August 25, 2025

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

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
Showing 1-12 of 145

Last Updated: 09/26/2026