Alfredo Brusco

72PUBLICATIONS
439CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (72)

|Aug 12, 2026
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

|Jul 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

|Jul 04, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

|May 27, 2026
Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre Cohort.

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Dec 30, 2025
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Manuel Airoldi, Heather Bondi, Veronica Remori

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Frequent Collaborators

15 joint publications

Lisa Pavinato

14 joint publications

Marco Tartaglia

12 joint publications

Diana Carli

10 joint publications

Giovanni Battista Ferrero