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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: ashton e. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
Rajakulendran S, Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG. Rajakulendran S, et al. Arch Neurol. 2010 Apr;67(4):497-500. doi: 10.1001/archneurol.2010.58. Arch Neurol. 2010. PMID: 20385919 Free article.
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R, Pradhan S, Banerjee S, Jahan A, Akhtar S, Pahari A, Raut S, Parakh P, Basu S, Srivastava P, Nayak S, Thenral SG, Ramprasad V, Ashton E, Bockenhauer D, Mandal K. Sinha R, et al. Among authors: ashton e. Pediatr Nephrol. 2022 Aug;37(8):1811-1836. doi: 10.1007/s00467-021-05388-y. Epub 2022 Jan 10. Pediatr Nephrol. 2022. PMID: 35006361
Genetic testing in renal disease.
Bockenhauer D, Medlar AJ, Ashton E, Kleta R, Lench N. Bockenhauer D, et al. Among authors: ashton e. Pediatr Nephrol. 2012 Jun;27(6):873-83. doi: 10.1007/s00467-011-1865-2. Epub 2011 May 27. Pediatr Nephrol. 2012. PMID: 21617915 Review.
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 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.
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA. Enerbäck S, et al. Among authors: ashton e. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14. J Am Soc Nephrol. 2018. PMID: 29242249 Free PMC 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.
120 results