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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K; Bouvagnet P, Mitchison HM. Onoufriadis A, et al. Among authors: bolard f. Hum Mol Genet. 2014 Jul 1;23(13):3362-74. doi: 10.1093/hmg/ddu046. Epub 2014 Feb 11. Hum Mol Genet. 2014. PMID: 24518672 Free PMC article.
Cell and cytokine profile in nasal secretions in cystic fibrosis.
Bergoin C, Gosset P, Lamblin C, Bolard F, Turck D, Tonnel AB, Wallaert B. Bergoin C, et al. Among authors: bolard f. J Cyst Fibros. 2002 Sep;1(3):110-5. doi: 10.1016/s1569-1993(02)00072-3. J Cyst Fibros. 2002. PMID: 15463816 Free article.