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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Human genetics - 8 Jul 2026

Cardaropoli Simona, Pavinato Lisa, Trajkova Slavica, Carli Diana, Pullano Verdiana, Palermo Flavia, Mussa Alessandro, Biamino Elisa, Antona Vincenzo, Zonta Andrea, Dimartino Paola, Zadorozhna Mariia, Bruselles Alessandro, Keller Roberto, Pasini Barbara, Grosso Enrico, Mandrile Giorgia, Buxbaum Joseph D, De Rubeis Silvia, Pippucci Tommaso, Tartaglia Marco, Giorgio Elisa, Brusco Alfredo, Ferrero Giovanni Battista

Abstract excerpt

Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios. While ES established a...

Topics

Humans
Neurodevelopmental Disorders
Phenotype
Exome Sequencing
Female
Genetic Association Studies
Genetic Predisposition to Disease
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Genetic Testing

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Open in PubMed Open full text

Identifiers

PMID: 42420675
DOI: 10.1007/s00439-026-02843-4
PMCID: PMC13346230

Genes

DSCAM
GNAI2
MID2
PPM1D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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