Article

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

2025-03-12

Abstract excerpt

Genomic sequencing is widely used to identify causative genetic changes in neurodevelopmental disorders, such as autism, intellectual disability, and epilepsy. Most neurodevelopmental disorders also present with diverse clinical features, and delineating the interaction between causative genetic changes and phenotypic features is a key prerequisite for developing personalized therapies. However, assessing clinical...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0edfa29d-a6fd-5013-9c07-29f5005bae1c
DOI: 10.1101/2025.03.11.642649

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersDOI 10.1101/2025.03.11.642649Read

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.Semantic proximity Read

Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.Semantic proximity Read

Molecular subtyping and improved treatment of neurodevelopmental disease.Semantic proximity Read

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.Semantic proximity Read

Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.Semantic proximity Read

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

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Semantic proximity Read

The frontiers of sequencing in undiagnosed neurodevelopmental diseases.Semantic proximity Read

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.Semantic proximity Read

Shared and distinct phenotypic profiles among neurodevelopmental disorder genesSemantic proximity Read

Quantifying concordant genetic effects of de novo mutations on multiple disorders.Semantic proximity Read

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.Semantic proximity Read