Elena Bacchelli
Bologna, Italy
Last Updated: 09/26/2026
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Found 31 publications
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
So Fragile, So Human: Noncoding DNA Regions Orchestrating Gene Expression Involved in Neurodevelopmental Disorders and in Human Brain Evolution.
Journal: International journal of molecular sciences
Published: November 06, 2025
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Journal: Research square
Published: November 14, 2023
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Journal: NPJ genomic medicine
Published: October 20, 2023
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.
Journal: Annals of neurology
Published: March 01, 2023
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Journal: Frontiers in genetics
Published: May 26, 2022
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Journal: Frontiers in psychiatry
Published: January 19, 2022
Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old.
Journal: Brain sciences
Published: August 20, 2020
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Journal: Journal of cellular and molecular medicine
Published: July 24, 2020
The role of rare compound heterozygous events in autism spectrum disorder.
Journal: Translational psychiatry
Published: October 29, 2019
Last Updated: 09/26/2026