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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA. Omoyinmi E, et al. Among authors: ashton e. PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017. PLoS One. 2017. PMID: 28750028 Free PMC article.
Genetic testing in children with surfactant dysfunction.
Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q. Turcu S, et al. Among authors: ashton e. Arch Dis Child. 2013 Jul;98(7):490-5. doi: 10.1136/archdischild-2012-303166. Epub 2013 Apr 26. Arch Dis Child. 2013. PMID: 23625987
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D. Besouw MTP, et al. Among authors: ashton e. Pediatr Nephrol. 2017 Jun;32(6):987-996. doi: 10.1007/s00467-016-3573-4. Epub 2017 Feb 10. Pediatr Nephrol. 2017. PMID: 28188436 Free article.
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D. Ashton EJ, et al. Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15. Kidney Int. 2018. PMID: 29398133 Free article.
Clinical and diagnostic features of Bartter and Gitelman syndromes.
Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, Kleta R, Van't Hoff W, Bockenhauer D. Walsh PR, et al. Among authors: ashton e. Clin Kidney J. 2018 Jun;11(3):302-309. doi: 10.1093/ckj/sfx118. Epub 2017 Nov 10. Clin Kidney J. 2018. PMID: 29942493 Free PMC article.
Two Brothers from Macedonia with Gitelman Syndrome.
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D. Janchevska A, et al. Among authors: ashton e. Balkan J Med Genet. 2023 Jul 31;26(1):69-74. doi: 10.2478/bjmg-2023-0009. eCollection 2023 Jul. Balkan J Med Genet. 2023. PMID: 37576796 Free PMC article.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Among authors: ashton e. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
120 results