Abstract
Abstract Background Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is chal...
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APA
Wright, C. F., Campbell, P., Eberhardt, R. Y., Aitken, S., Perrett, D., Brent, S., … Firth, H. V. (2023). Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. New England Journal of Medicine, 388(17), 1559–1571. https://doi.org/10.1056/nejmoa2209046
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