Emanuela Avola

Troina, 94018, Italy

Last Updated: 09/26/2026

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Found 17 publications

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Journal: International journal of molecular sciences

Published: December 22, 2025

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

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.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.

Journal: Medicina (Kaunas, Lithuania)

Published: July 14, 2023

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

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.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Journal: American journal of human genetics

Published: May 17, 2023

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Journal: Nature communications

Published: October 22, 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Journal: Nature communications

Published: April 09, 2020

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

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

Published: April 17, 2018

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Journal: Nature neuroscience

Published: November 16, 2016

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Journal: Nature genetics

Published: September 23, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026