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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. Among authors: fortner cn. Pediatr Pulmonol. 2024 Jul;59(7):1952-1961. doi: 10.1002/ppul.27023. Epub 2024 May 2. Pediatr Pulmonol. 2024. PMID: 38695616
VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
Davies JC, Moskowitz SM, Brown C, Horsley A, Mall MA, McKone EF, Plant BJ, Prais D, Ramsey BW, Taylor-Cousar JL, Tullis E, Uluer A, McKee CM, Robertson S, Shilling RA, Simard C, Van Goor F, Waltz D, Xuan F, Young T, Rowe SM; VX16-659-101 Study Group. Davies JC, et al. N Engl J Med. 2018 Oct 25;379(17):1599-1611. doi: 10.1056/NEJMoa1807119. Epub 2018 Oct 18. N Engl J Med. 2018. PMID: 30334693 Free PMC article. Clinical Trial.
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. Among authors: fortner cn. 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.
Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.
Sadeghi H, Kay DM, Langfelder-Schwind E, DeCelie-Germana JK, Berdella M, Soultan ZN, Goetz DM, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Stevens C, Tavakoli N, Voter K, Welter JJ, Kier C; New York State Cystic Fibrosis Newborn Screening Consortium. Sadeghi H, et al. Among authors: fortner cn. J Cyst Fibros. 2024 Nov 11:S1569-1993(24)01808-3. doi: 10.1016/j.jcf.2024.10.015. Online ahead of print. J Cyst Fibros. 2024. PMID: 39532587
Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study.
Flume PA, Biner RF, Downey DG, Brown C, Jain M, Fischer R, De Boeck K, Sawicki GS, Chang P, Paz-Diaz H, Rubin JL, Yang Y, Hu X, Pasta DJ, Millar SJ, Campbell D, Wang X, Ahluwalia N, Owen CA, Wainwright CE; VX14-661-110 study group. Flume PA, et al. Lancet Respir Med. 2021 Jul;9(7):733-746. doi: 10.1016/S2213-2600(20)30510-5. Epub 2021 Feb 10. Lancet Respir Med. 2021. PMID: 33581080
Discontinuation versus continuation of hypertonic saline or dornase alfa in modulator treated people with cystic fibrosis (SIMPLIFY): results from two parallel, multicentre, open-label, randomised, controlled, non-inferiority trials.
Mayer-Hamblett N, Ratjen F, Russell R, Donaldson SH, Riekert KA, Sawicki GS, Odem-Davis K, Young JK, Rosenbluth D, Taylor-Cousar JL, Goss CH, Retsch-Bogart G, Clancy JP, Genatossio A, O'Sullivan BP, Berlinski A, Millard SL, Omlor G, Wyatt CA, Moffett K, Nichols DP, Gifford AH; SIMPLIFY Study Group. Mayer-Hamblett N, et al. Lancet Respir Med. 2023 Apr;11(4):329-340. doi: 10.1016/S2213-2600(22)00434-9. Epub 2022 Nov 4. Lancet Respir Med. 2023. PMID: 36343646 Free PMC article. Clinical Trial.
Azithromycin for Early Pseudomonas Infection in Cystic Fibrosis. The OPTIMIZE Randomized Trial.
Mayer-Hamblett N, Retsch-Bogart G, Kloster M, Accurso F, Rosenfeld M, Albers G, Black P, Brown P, Cairns A, Davis SD, Graff GR, Kerby GS, Orenstein D, Buckingham R, Ramsey BW; OPTIMIZE Study Group. Mayer-Hamblett N, et al. Am J Respir Crit Care Med. 2018 Nov 1;198(9):1177-1187. doi: 10.1164/rccm.201802-0215OC. Am J Respir Crit Care Med. 2018. PMID: 29890086 Free PMC article. Clinical Trial.
20 results