Claudia Ciaccio

Milan, Italy

Last Updated: 09/26/2026

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Found 41 publications

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.

Journal: Seizure

Published: September 15, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

Journal: Genes

Published: April 18, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Journal: Neurology. Genetics

Published: March 20, 2025

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Journal: Human genetics

Published: December 16, 2024

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Journal: Genes

Published: October 11, 2024

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Journal: Cerebellum (London, England)

Published: August 14, 2024

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.

Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 04, 2024

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: December 21, 2023

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.

22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.

Journal: Psychiatric genetics

Published: December 12, 2023

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: December 08, 2023

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Journal: Genes

Published: June 22, 2023

Showing 1-12 of 41

Last Updated: 09/26/2026