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Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: parisi ma. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
Newborn Screening: Beyond the Spot.
Urv TK, Parisi MA. Urv TK, et al. Among authors: parisi ma. Adv Exp Med Biol. 2017;1031:323-346. doi: 10.1007/978-3-319-67144-4_19. Adv Exp Med Biol. 2017. PMID: 29214581 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
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
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.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: parisi ma. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
88 results