Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
40593860 (PubMed )
Supplement: 41525_2025_505_MOESM3_ESM.xlsx › Table_of_phenotypes
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.
Yamoto K et al.
Clinical Epigenetics, 2024
38840187 (PubMed )
Supplement: 13148_2024_1688_MOESM1_ESM.pdf
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain G et al.
European Journal of Human Genetics : Ejhg, 2018
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