Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

136 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Are we prepared to deliver gene-targeted therapies for rare diseases?
Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK. Yu TW, et al. Among authors: caggana m. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):7-12. doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24. Am J Med Genet C Semin Med Genet. 2023. PMID: 36691939
Rare copy number variants implicated in posterior urethral valves.
Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL. Boghossian NS, et al. Among authors: caggana m. Am J Med Genet A. 2016 Mar;170(3):622-33. doi: 10.1002/ajmg.a.37493. Epub 2015 Dec 14. Am J Med Genet A. 2016. PMID: 26663319 Free PMC article.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium. Orsini JJ, et al. Among authors: caggana m. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590 Free article.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Wasserstein MP, et al. Among authors: caggana m. Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12. Genet Med. 2016. PMID: 27171547 Free article.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Wasserstein MP, et al. Among authors: caggana m. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093709 Free PMC article.
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: caggana m. 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.
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: caggana m. Front Genet. 2022 Jul 22;13:867337. doi: 10.3389/fgene.2022.867337. eCollection 2022. Front Genet. 2022. PMID: 35938011 Free PMC article.
136 results