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

Year Number of Results
1993 1
2000 1
2008 1
2009 3
2010 3
2011 3
2012 1
2013 1
2015 1
2016 7
2017 5
2018 6
2019 4
2020 4
2021 5
2022 3
2023 6
2024 3

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48 results

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Page 1
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. Kelly NR, et al. Among authors: orsini jj. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38173711 Free PMC article.
VUS: Variant of uncertain significance or very unclear situation?
Kemp S, Orsini JJ, Ebberink MS, Engelen M, Lund TC. Kemp S, et al. Among authors: orsini jj. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107678. doi: 10.1016/j.ymgme.2023.107678. Epub 2023 Aug 3. Mol Genet Metab. 2023. PMID: 37574344
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.
Dorley MC, Dizikes GJ, Pickens CA, Cuthbert C, Basheeruddin K, Gulamali-Majid F, Hetterich P, Hietala A, Kelsey A, Klug T, Lesko B, Mills M, Moloney S, Neogi P, Orsini J, Singer D, Petritis K. Dorley MC, et al. Among authors: orsini j. Int J Neonatal Screen. 2023 Feb 27;9(1):11. doi: 10.3390/ijns9010011. Int J Neonatal Screen. 2023. PMID: 36975849 Free PMC article.
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Lekstrom-Himes J, Brooks PJ, Koeberl DD, Brower A, Goldenberg A, Green RC, Morris JA, Orsini JJ, Yu TW, Augustine EF. Lekstrom-Himes J, et al. Among authors: orsini jj. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):30-43. doi: 10.1002/ajmg.c.32031. Epub 2023 Feb 4. Am J Med Genet C Semin Med Genet. 2023. PMID: 36738469 Free PMC article.
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
Gelb MH, Basheeruddin K, Burlina A, Chen HJ, Chien YH, Dizikes G, Dorley C, Giugliani R, Hietala A, Hong X, Kao SM, Khaledi H, Klug T, Kubaski F, Liao HC, Martin M, Manning A, Orsini J, Peng Y, Ranieri E, Rohrwasser A, Szabo-Fresnais N, Turgeon CT, Vaz FM, Wang LY, Matern D. Gelb MH, et al. Among authors: orsini j. Int J Neonatal Screen. 2022 Nov 28;8(4):62. doi: 10.3390/ijns8040062. Int J Neonatal Screen. 2022. PMID: 36547379 Free PMC article. Review.
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Brower A, et al. Among authors: orsini jj. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.
Making Decisions About Krabbe Disease Newborn Screening.
Kurtzberg J, Matern D, Orsini JJ, Gelb M, Pike-Langenfeld S, Brackbill L, Grantham A, Steyermark AC. Kurtzberg J, et al. Among authors: orsini jj. Pediatrics. 2022 Aug 1;150(2):e2022057888. doi: 10.1542/peds.2022-057888A. Pediatrics. 2022. PMID: 35896799 No abstract available.
48 results