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Select item 63153241.

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients

Jenny L. Kerschner, Sujana Ghosh, Alekh Paranjapye, Wilmel R. Cosme, Marie-Pierre Audrézet, Miyuki Nakakuki, Hiroshi Ishiguro, Claude Férec, Johanna Rommens, Ann Harris

J Mol Diagn. 2019 Jan; 21(1): 70–80. doi: 10.1016/j.jmoldx.2018.08.011

PMCID:: PMC6315324

Abstract Article

Select item 58368422.

Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

Maxim Ivanov, Alina Matsvay, Olga Glazova, Stanislav Krasovskiy, Mariya Usacheva, Elena Amelina, Aleksandr Chernyak, Mikhail Ivanov, Sergey Musienko, Timofey Prodanov, Sergey Kovalenko, Ancha Baranova, Kamil Khafizov

BMC Med Genomics. 2018; 11(Suppl 1): 13. Published online 2018 Feb 13. doi: 10.1186/s12920-018-0328-z

PMCID:: PMC5836842

Abstract Article PDF–1.0M

Select item 57025613.

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation

Sofía C. Ortiz, Santiago J. Aguirre, Sofía Flores, Claudio Maldonado, Juan Mejía, Lilian Salinas

Mol Genet Genomic Med. 2017 Nov; 5(6): 751–757. Published online 2017 Oct 11. doi: 10.1002/mgg3.337

PMCID:: PMC5702561

Abstract Article PDF–112K

Select item 53321304.

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

Miyono M. Hendrix, Stephanie L. Foster, Suzanne K. Cordovado

J Inborn Errors Metab Screen. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: J Inborn Errors Metab Screen. 2016 Jan-Dec; 4: 10.1177/2326409816661358. Published online 2016 Aug 1. doi: 10.1177/2326409816661358

PMCID:: PMC5332130

Abstract Article PDF–394K

Select item 48029625.

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

Mei W. Baker, Anne E. Atkins, Suzanne K. Cordovado, Miyono Hendrix, Marie C. Earley, Philip M. Farrell

Genet Med. Author manuscript; available in PMC 2016 Mar 22.

Published in final edited form as: Genet Med. 2016 Mar; 18(3): 231–238. Published online 2015 Feb 12. doi: 10.1038/gim.2014.209

PMCID:: PMC4802962

Abstract Article PDF–271K

Select item 35512606.

CFTR mutation analysis and haplotype associations in CF patients

S.K. Cordovado, M. Hendrix, C.N. Greene, S. Mochal, M.C. Earley, P.M. Farrell, M. Kharrazi, W.H. Hannon, P.W. Mueller

Mol Genet Metab. Author manuscript; available in PMC 2013 Jan 22.

Published in final edited form as: Mol Genet Metab. 2012 Feb; 105(2): 249–254. Published online 2011 Oct 26. doi: 10.1016/j.ymgme.2011.10.013

PMCID:: PMC3551260

Abstract Article PDF–1.4M

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