Beatrice Spedicati

Trieste, 34149, Italy

Last Updated: 09/26/2026

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Found 48 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

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

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

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

Large-scale blood pressure GWAS accounting for gene-depression interactions in 564,680 individuals from diverse populations.

Large-scale blood pressure GWAS accounting for gene-depression interactions in 564,680 individuals from diverse populations.

Journal: HGG advances

Published: July 14, 2025

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies.

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies.

Journal: Biomedicines

Published: July 11, 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

Unveiling the spectrum of sudden cardiac death: a multidisciplinary analysis from the Friuli Venezia Giulia registry.

Unveiling the spectrum of sudden cardiac death: a multidisciplinary analysis from the Friuli Venezia Giulia registry.

Journal: Frontiers in cardiovascular medicine

Published: June 21, 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

The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.

The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.

Journal: Mitochondrion

Published: April 16, 2025

Showing 1-12 of 48

Last Updated: 09/26/2026