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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G, Thomas NS, Carroll M, Coles J, Doherty R; Genomics England Research Consortium; Goggin P, Green B, Harris A, Hunt D, Jackson CL, Lord J, Mennella V, Thompson J, Walker WT, Lucas JS. Wheway G, et al. Among authors: goggin p. BMC Med Genomics. 2021 Sep 23;14(1):234. doi: 10.1186/s12920-021-01084-w. BMC Med Genomics. 2021. PMID: 34556108 Free PMC article.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Antony D, et al. Among authors: goggin p. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23255504 Free PMC article.
Diagnosis and management of primary ciliary dyskinesia.
Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK. Lucas JS, et al. Arch Dis Child. 2014 Sep;99(9):850-6. doi: 10.1136/archdischild-2013-304831. Epub 2014 Apr 25. Arch Dis Child. 2014. PMID: 24771309 Free PMC article. Review.
Diagnostic Methods in Primary Ciliary Dyskinesia.
Lucas JS, Paff T, Goggin P, Haarman E. Lucas JS, et al. Among authors: goggin p. Paediatr Respir Rev. 2016 Mar;18:8-17. doi: 10.1016/j.prrv.2015.07.017. Epub 2015 Aug 19. Paediatr Respir Rev. 2016. PMID: 26362507 Review.
Accuracy of diagnostic testing in primary ciliary dyskinesia.
Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, Evans HJ, Harris A, Lackie P, Packham S, Page A, Thompson J, Walker WT, Kuehni C, Lucas JS. Jackson CL, et al. Among authors: goggin pm. Eur Respir J. 2016 Mar;47(3):837-48. doi: 10.1183/13993003.00749-2015. Epub 2015 Dec 2. Eur Respir J. 2016. PMID: 26647444 Free PMC article.
104 results