Federica F. L'erario

Rome, Italy

Last Updated: 09/26/2026

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Found 8 publications

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

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

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Journal: Genes

Published: March 19, 2025

Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.

Clinical characterization of a novel ATP1A2 p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.

Journal: Brain communications

Published: July 25, 2024

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

Journal: Genes & diseases

Published: July 03, 2024

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

Journal: International journal of molecular sciences

Published: November 27, 2023

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Journal: Clinical genetics

Published: June 08, 2023

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Journal: Genes

Published: December 09, 2022

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Last Updated: 09/26/2026