Davide Colavito

Padova, 35127, Italy

Last Updated: 09/26/2026

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Found 46 publications

VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

Journal: European journal of medical genetics

Published: January 15, 2026

Case Report: Hermansky-Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis.

Case Report: Hermansky-Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis.

Journal: Frontiers in immunology

Published: December 30, 2025

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

Journal: American journal of medical genetics. Part A

Published: October 02, 2025

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Journal: Journal of neurology

Published: April 01, 2025

Association of IgG4-related disease with human inborn errors of immunity.

Association of IgG4-related disease with human inborn errors of immunity.

Journal: Rheumatology (Oxford, England)

Published: November 03, 2024

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

Journal: International journal of molecular sciences

Published: July 21, 2024

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis.

Journal: Frontiers in immunology

Published: July 18, 2024

CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

Journal: European journal of human genetics : EJHG

Published: November 26, 2023

A novel STING variant triggers endothelial toxicity and SAVI disease.

A novel STING variant triggers endothelial toxicity and SAVI disease.

Journal: The Journal of experimental medicine

Published: November 23, 2023

NFIA haploinsufficiency: case series and literature review.

NFIA haploinsufficiency: case series and literature review.

Journal: Frontiers in pediatrics

Published: September 11, 2023

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Journal: Journal of neurology

Published: September 06, 2023

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.

Journal: Genes

Published: April 17, 2023

Showing 1-12 of 46

Last Updated: 09/26/2026