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Article

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Orphanet journal of rare diseases - 19 Feb 2022

Álvarez-Mora María Isabel, Sánchez Aurora, Rodríguez-Revenga Laia, Corominas Jordi, Rabionet Raquel, Puig Susana, Madrigal Irene

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly heterogeneous and both genetic and environmental factors play an important role in many of them. The introduction of next generation sequencing (NGS) has lead to the detection of...

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Identifiers

PMID: 35183220
DOI: 10.1186/s13023-022-02213-z
PMCID: PMC8858550

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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