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Page 1
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM, Sadeghi H, Kier C, Berdella M, DeCelie-Germana JK, Soultan ZN, Goetz DM, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Stevens C, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Langfelder-Schwind E. Kay DM, et al. Pediatr Pulmonol. 2024 Jul;59(7):1952-1961. doi: 10.1002/ppul.27023. Epub 2024 May 2. Pediatr Pulmonol. 2024. PMID: 38695616
Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State.
Kier C, Kay DM, Langfelder-Schwind E, Goetz DM, Berdella M, DeCelie-Germana JK, Soultan ZN, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Sadeghi H. Kier C, et al. Pediatr Pulmonol. 2024 May;59(5):1511-1513. doi: 10.1002/ppul.26928. Epub 2024 Mar 1. Pediatr Pulmonol. 2024. PMID: 38426813 No abstract available.
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. Hum Mutat. 2016 Feb;37(2):201-8. doi: 10.1002/humu.22927. Epub 2015 Dec 2. Hum Mutat. 2016. PMID: 26538069