Roberta Giansante

Chieti, 66100, Italy

Last Updated: 09/26/2026

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Found 8 publications

Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.

Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.

Journal: Genes
Published: November 27, 2025

Vitamins and retinitis pigmentosa: a single-center survey from an Italian cohort.

Vitamins and retinitis pigmentosa: a single-center survey from an Italian cohort.

Journal: Therapeutic advances in ophthalmology
Published: August 28, 2025

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.

Journal: ESC heart failure
Published: October 29, 2024

OCT analysis and MPOD assessment in patients affected by retinitis pigmentosa.

OCT analysis and MPOD assessment in patients affected by retinitis pigmentosa.

Journal: Scientific reports
Published: August 15, 2024

The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects.

The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects.

Journal: Cancers
Published: May 24, 2024

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Journal: Cancers
Published: October 13, 2023

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.

Journal: International journal of molecular sciences
Published: August 21, 2023

First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

Journal: Molecular cytogenetics
Published: October 13, 2021
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Last Updated: 09/26/2026