09 April 2024 by the Hunter Genetics Team
Himanshu Goel presenter
Wright CF, Fitzpatrick DR, Firth HV.Paediatric genomics: diagnosing rare disease in children.Nature Reviews Genetics. 2018;19(5):253-68.
Ji C, Farrar MA, Norris S, Bhattacharya K, Bennetts B, Newson AJ, et al.The Australian landscape of newborn screening in the genomics era.Rare Disease and Orphan Drugs Journal. 2023;2(4):26.
Wright Caroline F, Campbell P, Eberhardt Ruth Y, Aitken S, Perrett D, Brent S, et al.Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. New England Journal of Medicine. 2023;388(17):1559-71.
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