Sara Bargiacchi

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 26 publications

CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights.

CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights.

Journal: Journal of clinical medicine

Published: May 08, 2026

Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.

Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.

Journal: Ophthalmic genetics

Published: March 05, 2025

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

Journal: Ophthalmic genetics

Published: January 07, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Journal: Endocrine connections

Published: June 14, 2024

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Journal: Ophthalmic genetics

Published: April 09, 2024

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Journal: Scientific reports

Published: January 02, 2024

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.

Journal: Ophthalmic genetics

Published: December 05, 2022

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Journal: Ophthalmic genetics

Published: November 15, 2022

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

Journal: Orphanet journal of rare diseases

Published: October 10, 2022

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Journal: International journal of molecular sciences

Published: May 14, 2022

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Journal: Human mutation

Published: December 06, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026