Davide Mei

Florence, Italy

Last Updated: 09/26/2026

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Found 107 publications

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay.

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay.

Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026

Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.

Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.

Journal: Gene
Published: March 25, 2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

Journal: American journal of medical genetics. Part A
Published: February 25, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics
Published: January 06, 2026

Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.

Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.

Journal: Neurology. Genetics
Published: October 01, 2025

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A
Published: July 26, 2025

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Journal: Epilepsia
Published: June 24, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics
Published: April 11, 2025

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Journal: Neurology. Genetics
Published: January 28, 2025

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Journal: European journal of neurology
Published: December 04, 2024

Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.

Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.

Journal: Epilepsia
Published: November 01, 2024

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Journal: Journal of medical genetics
Published: August 19, 2024
Showing 1-12 of 107

Last Updated: 09/26/2026