Defay, Thomas

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Owen, M. J., Niemi, A.-K., Dimmock, D. P., Speziale, M., Nespeca, M., Chau, K. K., Van Der Kraan, L., Wright, M. S., Hansen, C., Veeraraghavan, N., et al. (2021) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

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