Anna Morgan

Via Dell'Istria 65/1
Trieste, 34137, Italy

Last Updated: 09/26/2026

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Found 62 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

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

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

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

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

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Journal: International journal of molecular sciences
Published: February 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

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Journal: American journal of medical genetics. Part A
Published: September 24, 2024

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Journal: Biomolecules
Published: August 28, 2024

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Journal: Gene
Published: July 31, 2024

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Journal: Molecular medicine (Cambridge, Mass.)
Published: July 18, 2024
Showing 1-12 of 62

Last Updated: 09/26/2026