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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 1
2010 1
2013 1
2014 3
2016 1
2017 1
2018 4
2019 3
2021 3
2022 6
2023 7
2024 3

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33 results

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Page 1
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: brower am. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
Special issue: Newborn screening research.
Brower A, Chan K. Brower A, et al. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):135-137. doi: 10.1002/ajmg.c.32007. Epub 2022 Oct 10. Am J Med Genet C Semin Med Genet. 2022. PMID: 36214312 Free PMC article.
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Tavakoli NP, Gruber D, Armstrong N, Chung WK, Maloney B, Park S, Wynn J, Koval-Burt C, Verdade L, Tegay DH, Cohen LL, Shapiro N, Kennedy A, Noritz G, Ciafaloni E, Weinberger B, Ellington M Jr, Schleien C, Spinazzola R, Sood S, Brower A, Lloyd-Puryear M, Caggana M; Duchenne Muscular Dystrophy Pilot Study Group. Tavakoli NP, et al. Among authors: brower a. Ann Clin Transl Neurol. 2023 Aug;10(8):1383-1396. doi: 10.1002/acn3.51829. Epub 2023 Jun 23. Ann Clin Transl Neurol. 2023. PMID: 37350320 Free PMC article.
Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
Gruber D, Lloyd-Puryear M, Armstrong N, Scavina M, Tavakoli NP, Brower AM, Caggana M, Chung WK. Gruber D, et al. Among authors: brower am. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):197-205. doi: 10.1002/ajmg.c.32000. Epub 2022 Sep 24. Am J Med Genet C Semin Med Genet. 2022. PMID: 36152336 Free PMC article. Review.
Data sharing to advance gene-targeted therapies in rare diseases.
Lekstrom-Himes J, Augustine EF, Brower A, Defay T, Finkel RS, McGuire AL, Skinner MW, Yu TW. Lekstrom-Himes J, et al. Among authors: brower a. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):87-98. doi: 10.1002/ajmg.c.32028. Epub 2023 Jan 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 36594517
Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.
Lloyd-Puryear MA, Crawford TO, Brower A, Stephenson K, Trotter T, Goldman E, Goldenberg A, Howell RR, Kennedy A, Watson M. Lloyd-Puryear MA, et al. Among authors: brower a. Int J Neonatal Screen. 2018 Jan 25;4(1):6. doi: 10.3390/ijns4010006. eCollection 2018 Mar. Int J Neonatal Screen. 2018. PMID: 33072932 Free PMC article. Review.
33 results