Associated Papers
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
Owen MJ et al.
The New England Journal of Medicine, 2021
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