Diego Vozzi

Genoa, Italy

Last Updated: 09/26/2026

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Found 45 publications

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Journal: Molecular medicine (Cambridge, Mass.)

Published: February 19, 2026

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Journal: The journal of allergy and clinical immunology. In practice

Published: July 27, 2025

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Journal: International journal of molecular sciences

Published: June 11, 2025

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 16, 2024

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Journal: International journal of molecular sciences

Published: December 12, 2023

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: April 19, 2023

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Journal: Cancers

Published: February 16, 2023

Integrative multi-omic analysis reveals conserved cell-projection deficits in human Down syndrome brains.

Integrative multi-omic analysis reveals conserved cell-projection deficits in human Down syndrome brains.

Journal: Neuron

Published: January 02, 2023

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Journal: Human mutation

Published: November 03, 2022

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.

Journal: Molecular syndromology

Published: September 15, 2022

LINE-1 regulates cortical development by acting as long non-coding RNAs.

LINE-1 regulates cortical development by acting as long non-coding RNAs.

Journal: Nature communications

Published: January 14, 2022

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Journal: Clinical immunology (Orlando, Fla.)

Published: June 04, 2021

Showing 1-12 of 45

Last Updated: 09/26/2026