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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 2
2021 5
2022 2
2023 4
2024 2

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43 results

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Page 1
Krabbe Disease.
Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Orsini JJ, et al. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301416 Free Books & Documents. Review.
Newborn screening for Krabbe's disease.
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Orsini JJ, et al. J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. J Neurosci Res. 2016. PMID: 27638592 Free PMC article. Review.
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.
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.
The future of newborn screening for lysosomal disorders.
Wasserstein MP, Orsini JJ, Goldenberg A, Caggana M, Levy PA, Breilyn M, Gelb MH. Wasserstein MP, et al. Among authors: orsini jj. Neurosci Lett. 2021 Aug 24;760:136080. doi: 10.1016/j.neulet.2021.136080. Epub 2021 Jun 22. Neurosci Lett. 2021. PMID: 34166724 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
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.
Newborn Screening for X-Linked Adrenoleukodystrophy.
Moser AB, Jones RO, Hubbard WC, Tortorelli S, Orsini JJ, Caggana M, Vogel BH, Raymond GV. Moser AB, et al. Among authors: orsini jj. Int J Neonatal Screen. 2016 Dec;2(4):15. doi: 10.3390/ijns2040015. Epub 2016 Dec 6. Int J Neonatal Screen. 2016. PMID: 31467997 Free PMC article.
43 results