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The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan.
Bardhan S, Li H, Tarver E, Schramm C, Brown M, Garcia L, Schwartz B, Mazzucco A, Natarajan N, Walsh E, Ryan L, Pearson G, Parisi MA. Bardhan S, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2024 Mar;196(1):e32081. doi: 10.1002/ajmg.c.32081. Epub 2024 Jan 10. Am J Med Genet C Semin Med Genet. 2024. PMID: 38197535 Review.
Gene-targeted therapies: Overview and implications.
Brooks PJ, Urv TK, Parisi MA. Brooks PJ, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):13-18. doi: 10.1002/ajmg.c.32033. Epub 2023 Mar 2. Am J Med Genet C Semin Med Genet. 2023. PMID: 36864710
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M. Forsyth R, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):121-130. doi: 10.1002/ajmg.c.31966. Epub 2022 Mar 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 35312150 Free PMC article.
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: parisi ma. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
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: parisi ma. 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
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Vilboux T, Gahl WA, Gunay-Aygun M. Summers AC, et al. Among authors: parisi ma. Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28497568 Free PMC article.
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