Ornella Galesi
Troina, 94018, Italy
Last Updated: 09/26/2026
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Found 21 publications
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.
Journal: Brain : a journal of neurology
Published: November 26, 2025
Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
Journal: Gene
Published: April 08, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Journal: International journal of molecular sciences
Published: October 30, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: medRxiv : the preprint server for health sciences
Published: September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Journal: Cell
Published: August 19, 2024
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Journal: medRxiv : the preprint server for health sciences
Published: June 09, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Journal: American journal of human genetics
Published: May 17, 2023
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.
Journal: Genes & genomics
Published: October 10, 2022
Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.
Journal: Genes
Published: September 28, 2022
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Journal: Genes
Published: September 24, 2022
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Journal: Cytogenetic and genome research
Published: June 04, 2022
Last Updated: 09/26/2026