Biblio

Found 2 results
Filters: Keyword is Metabolism, Inborn Errors  [Clear All Filters]
2021
McInnes G, Sharo AG, Koleske ML, Brown JEH, Norstad M, Adhikari AN, Wang S, Brenner SE, Halpern J, Koenig BA, et al. Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. Am J Hum Genet. 2021 ;108(4):535-548.
2020
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 ;26(9):1392-1397.