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J. Pijuan

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Review Open access Sep 2026

Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children

Whole-genome sequencing is increasingly emerging as a first-line genomic strategy for pediatric rare diseases, while complementary technologies, expert phenotyping, and iterative data interpretation remain essential for comprehensive and accurate diagnosis and equitable access to genomic medicine.

Natàlia Caelles-Gramunt, J. Pijuan · 1 citation
Review Aug 2026

Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.

A comprehensive clinical workflow is outlined that integrates deep phenotyping, genomic variant identification, and functional validation with multi-omics approaches to enhance diagnostic accuracy in RDs and improve understanding of RDs within the framework of precision medicine.

J. Olival, J. Pijuan, Natàlia Caelles-Gramunt et al. · 0 citations

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