Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability

WGS serves as a powerful tool for uncovering genetic etiologies in children with unexplained DD/ID, with meaningful implications for clinical care, genetic counseling for families, and long-term management planning.

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Publication Details

Journal
BMC Medical Genomics
Published
2025-11-21
DOI
https://doi.org/10.1186/s12920-025-02266-6
Citations
2
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
3.63
Controls
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article

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability

Jinbo Xu, Hong Li, Yaobo Xu, Lulu Chen et al.
2 citations
BMC Medical Genomics
Genomics and Rare Diseases
3.63
article

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability

Jinbo Xu, Hong Li, Yaobo Xu, Lulu Chen, Yishan Wang, Wei Su
article en
2 citations

Abstract

WGS serves as a powerful tool for uncovering genetic etiologies in children with unexplained DD/ID, with meaningful implications for clinical care, genetic counseling for families, and long-term management planning.

BMC Medical GenomicsVol. 18(1)
Anhui Provincial Children's Hospital (CN)
Openalex Percentile: Top 6%
Genomics and Rare Diseases
3.63
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