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Article

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.

Clinical genetics - 1 Oct 2024

Schot Rachel, Ferraro Federico, Geeven Geert, Diderich Karin E M, Barakat Tahsin Stefan

Abstract excerpt

Despite increasing knowledge of disease-causing genes in human genetics, approximately half of the individuals affected by neurodevelopmental disorders remain genetically undiagnosed. Part of this missing heritability might be caused by genetic variants outside of protein-coding genes, which are not routinely diagnostically investigated. A recent preprint identified de novo variants in the non-coding spliceosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38859706
DOI: 10.1111/cge.14574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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