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Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: chinnery pf. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Leber hereditary optic neuropathy.
Yu-Wai-Man P, Turnbull DM, Chinnery PF. Yu-Wai-Man P, et al. Among authors: chinnery pf. J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162. J Med Genet. 2002. PMID: 11897814 Free PMC article. Review.
The epidemiology of mitochondrial disorders--past, present and future.
Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. Schaefer AM, et al. Among authors: chinnery pf. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):115-20. doi: 10.1016/j.bbabio.2004.09.005. Biochim Biophys Acta. 2004. PMID: 15576042 Free article. Review.
Optic mitochondriopathies.
Chinnery PF, Griffiths PG. Chinnery PF, et al. Neurology. 2005 Mar 22;64(6):940-1. doi: 10.1212/01.WNL.0000157285.93611.B2. Neurology. 2005. PMID: 15781804 No abstract available.
Mitochondrial DNA polymerase-gamma and human disease.
Hudson G, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. doi: 10.1093/hmg/ddl233. Hum Mol Genet. 2006. PMID: 16987890 Review.
Neuroferritinopathy.
Burn J, Chinnery PF. Burn J, et al. Among authors: chinnery pf. Semin Pediatr Neurol. 2006 Sep;13(3):176-81. doi: 10.1016/j.spen.2006.08.006. Semin Pediatr Neurol. 2006. PMID: 17101456
675 results