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Year Number of Results
2014 1
2015 2
2016 2
2017 3
2018 5
2019 6
2020 2
2021 2
2023 2
2024 0

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Page 1
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825 Free PMC article.
The False-negative Phenotype.
Lantos JD. Lantos JD. Pediatrics. 2019 Jan;143(Suppl 1):S33-S36. doi: 10.1542/peds.2018-1099G. Pediatrics. 2019. PMID: 30600269
Toward better governance of human genomic data.
O'Doherty KC, Shabani M, Dove ES, Bentzen HB, Borry P, Burgess MM, Chalmers D, De Vries J, Eckstein L, Fullerton SM, Juengst E, Kato K, Kaye J, Knoppers BM, Koenig BA, Manson SM, McGrail KM, McGuire AL, Meslin EM, Nicol D, Prainsack B, Terry SF, Thorogood A, Burke W. O'Doherty KC, et al. Nat Genet. 2021 Jan;53(1):2-8. doi: 10.1038/s41588-020-00742-6. Nat Genet. 2021. PMID: 33414545 Free PMC article.
Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies.
Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA; members of the NSIGHT Ethics and Policy Advisory Board. Johnston J, et al. Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S2-S6. doi: 10.1002/hast.874. Hastings Cent Rep. 2018. PMID: 30133723 Free PMC article.
24 results