Claudia Cesario

Rome, Italy

Last Updated: 09/26/2026

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Found 32 publications

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Journal: EBioMedicine
Published: March 17, 2026

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant.

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant.

Journal: Acta dermato-venereologica
Published: June 08, 2025

Multiple pyogenic granulomas on arteriovenous malformation associated with NRAS mutation.

Multiple pyogenic granulomas on arteriovenous malformation associated with NRAS mutation.

Journal: The Journal of dermatology
Published: January 05, 2025

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases
Published: October 07, 2024

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases
Published: December 12, 2023

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

Journal: European journal of human genetics : EJHG
Published: November 23, 2023

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Journal: Dermatology (Basel, Switzerland)
Published: March 04, 2023

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2023

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Journal: American journal of human genetics
Published: December 14, 2022

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

Journal: Genes
Published: November 28, 2022

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 20, 2022

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.

Journal: Genes, chromosomes & cancer
Published: May 31, 2022
Showing 1-12 of 32

Last Updated: 09/26/2026