Giovanni Spirito
Aosta, Italy
Last Updated: 09/26/2026
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Found 12 publications
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Journal: NPJ genomic medicine
Published: July 23, 2025
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Journal: NPJ genomic medicine
Published: July 23, 2025
GeNePi: a graphics processing unit enhanced next-generation bioinformatics pipeline for whole-genome sequencing analysis.
Journal: Briefings in bioinformatics
Published: May 08, 2025
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
Exploratory analysis of L1 retrotransposons expression in autism.
Journal: Molecular autism
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.
Journal: Molecular syndromology
Published: September 15, 2022
Natural SINEUP RNAs in Autism Spectrum Disorders: RAB11B-AS1 Dysregulation in a Neuronal CHD8 Suppression Model Leads to RAB11B Protein Increase.
Journal: Frontiers in genetics
Published: July 21, 2021
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Journal: Clinical immunology (Orlando, Fla.)
Published: June 04, 2021
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Journal: Frontiers in genetics
Published: November 03, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026