Ferruccio Romano

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 27 publications

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

Journal: Current issues in molecular biology

Published: June 26, 2026

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Journal: Scientific reports

Published: March 09, 2026

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.

Journal: European journal of medical genetics

Published: January 07, 2026

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

Journal: European journal of medical genetics

Published: September 05, 2025

Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.

Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.

Journal: Frontiers in neurology

Published: July 17, 2025

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.

Journal: International journal of molecular sciences

Published: June 10, 2025

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Journal: Italian journal of pediatrics

Published: April 01, 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

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Journal: Molecular genetics & genomic medicine

Published: March 17, 2025

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Journal: Birth defects research

Published: January 15, 2025

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome.

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome.

Journal: Molecular genetics & genomic medicine

Published: September 30, 2024

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

Journal: Birth defects research

Published: August 27, 2024

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Last Updated: 09/26/2026