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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
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C; New York State Cystic Fibrosis Newborn Screening Consortium. Kay DM, et al. Among authors: caggana m. Pediatr Pulmonol. 2015 Aug;50(8):771-80. doi: 10.1002/ppul.23222. Epub 2015 Jun 22. Pediatr Pulmonol. 2015. PMID: 26098992
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ; New York State Cystic Fibrosis Newborn Screening Consortium; van Roey P, Caggana M, Kay DM. Hughes EE, et al. Among authors: caggana m. Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2. Hum Mutat. 2016. PMID: 26538069
Newborn screening for congenital adrenal hyperplasia in New York State.
Pearce M, DeMartino L, McMahon R, Hamel R, Maloney B, Stansfield DM, McGrath EC, Occhionero A, Gearhart A, Caggana M, Tavakoli NP. Pearce M, et al. Among authors: caggana m. Mol Genet Metab Rep. 2016 Mar 12;7:1-7. doi: 10.1016/j.ymgmr.2016.02.005. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331001 Free PMC article.
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Rowe AD, Stoway SD, Åhlman H, Arora V, Caggana M, Fornari A, Hagar A, Hall PL, Marquardt GC, Miller BJ, Nixon C, Norgan AP, Orsini JJ, Pettersen RD, Piazza AL, Schubauer NR, Smith AC, Tang H, Tavakoli NP, Wei S, Zetterström RH, Currier RJ, Mørkrid L, Rinaldo P. Rowe AD, et al. Among authors: caggana m. Int J Neonatal Screen. 2021 Apr 23;7(2):23. doi: 10.3390/ijns7020023. Int J Neonatal Screen. 2021. PMID: 33922835 Free PMC article.
141 results