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Page 1
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
Neurology. 2022 Oct 3;99(14):e1527-e1537. doi: 10.1212/WNL.0000000000200986.
Neurology. 2022.
PMID: 35835557
Free PMC article.
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.
Sicko RJ, Romitti PA, Browne ML, Brody LC, Stevens CF, Mills JL, Caggana M, Kay DM.
Sicko RJ, et al. Among authors: stevens cf.
J Mol Diagn. 2022 Jan;24(1):33-40. doi: 10.1016/j.jmoldx.2021.09.007. Epub 2021 Oct 15.
J Mol Diagn. 2022.
PMID: 34656763
Free PMC article.
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Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M.
Kay DM, et al. Among authors: stevens cf.
Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18.
Genet Med. 2020.
PMID: 32418989
Free article.
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Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ, Stevens CF, Hughes EE, Leisner M, Ling H, Saavedra-Matiz CA, Caggana M, Kay DM.
Sicko RJ, et al. Among authors: stevens cf.
Int J Neonatal Screen. 2021 Nov 2;7(4):73. doi: 10.3390/ijns7040073.
Int J Neonatal Screen. 2021.
PMID: 34842611
Free PMC article.
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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Albertorio A, Cohen LL, Jain R, Andrew SP, Young SD, LaMarca NM, De Vivo DC, Caggana M, Chung WK.
Kraszewski JN, et al. Among authors: stevens cf.
Genet Med. 2018 Jun;20(6):608-613. doi: 10.1038/gim.2017.152. Epub 2017 Oct 12.
Genet Med. 2018.
PMID: 29758563
Free article.
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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: stevens cf.
Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2.
Hum Mutat. 2016.
PMID: 26538069
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