Associated Papers
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Tal G et al.
Molecular Genetics and Metabolism, 2015
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