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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12.
N Engl J Med. 2023.
PMID: 37043637
Free PMC article.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Foreman J, Perrett D, Mazaika E, Hunt SE, Ware JS, Firth HV.
Foreman J, et al.
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:151-176. doi: 10.1146/annurev-genom-102822-100509. Epub 2023 Jun 7.
Annu Rev Genomics Hum Genet. 2023.
PMID: 37285546
Free PMC article.
Review.
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