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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. 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.
Cell lineage-specific mitochondrial resilience during mammalian organogenesis.
Burr SP, Klimm F, Glynos A, Prater M, Sendon P, Nash P, Powell CA, Simard ML, Bonekamp NA, Charl J, Diaz H, Bozhilova LV, Nie Y, Zhang H, Frison M, Falkenberg M, Jones N, Minczuk M, Stewart JB, Chinnery PF. Burr SP, et al. Cell. 2023 Mar 16;186(6):1212-1229.e21. doi: 10.1016/j.cell.2023.01.034. Epub 2023 Feb 23. Cell. 2023. PMID: 36827974 Free article.
A consensus protocol for functional connectivity analysis in the rat brain.
Grandjean J, Desrosiers-Gregoire G, Anckaerts C, Angeles-Valdez D, Ayad F, Barrière DA, Blockx I, Bortel A, Broadwater M, Cardoso BM, Célestine M, Chavez-Negrete JE, Choi S, Christiaen E, Clavijo P, Colon-Perez L, Cramer S, Daniele T, Dempsey E, Diao Y, Doelemeyer A, Dopfel D, Dvořáková L, Falfán-Melgoza C, Fernandes FF, Fowler CF, Fuentes-Ibañez A, Garin CM, Gelderman E, Golden CEM, Guo CCG, Henckens MJAG, Hennessy LA, Herman P, Hofwijks N, Horien C, Ionescu TM, Jones J, Kaesser J, Kim E, Lambers H, Lazari A, Lee SH, Lillywhite A, Liu Y, Liu YY, López-Castro A, López-Gil X, Ma Z, MacNicol E, Madularu D, Mandino F, Marciano S, McAuslan MJ, McCunn P, McIntosh A, Meng X, Meyer-Baese L, Missault S, Moro F, Naessens DMP, Nava-Gomez LJ, Nonaka H, Ortiz JJ, Paasonen J, Peeters LM, Pereira M, Perez PD, Pompilus M, Prior M, Rakhmatullin R, Reimann HM, Reinwald J, Del Rio RT, Rivera-Olvera A, Ruiz-Pérez D, Russo G, Rutten TJ, Ryoke R, Sack M, Salvan P, Sanganahalli BG, Schroeter A, Seewoo BJ, Selingue E, Seuwen A, Shi B, Sirmpilatze N, Smith JAB, Smith C, Sobczak F, Stenroos PJ, Straathof M, Strobelt S, Sumiyoshi A, Takahashi K, Torres-García ME, Tudela R, van den Berg M, van der Marel K, … See abstract for full author list ➔ Grandjean J, et al. Nat Neurosci. 2023 Apr;26(4):673-681. doi: 10.1038/s41593-023-01286-8. Epub 2023 Mar 27. Nat Neurosci. 2023. PMID: 36973511 Free PMC article.
Editorial: Mitochondrial medicine special issue.
Chinnery PF, Falk MJ, Mootha VK, Rahman S. Chinnery PF, et al. J Inherit Metab Dis. 2021 Mar;44(2):289-291. doi: 10.1002/jimd.12374. J Inherit Metab Dis. 2021. PMID: 33764554 No abstract available.
Mitochondrial heteroplasmy beyond the oocyte bottleneck.
van den Ameele J, Li AYZ, Ma H, Chinnery PF. van den Ameele J, et al. Semin Cell Dev Biol. 2020 Jan;97:156-166. doi: 10.1016/j.semcdb.2019.10.001. Epub 2019 Oct 11. Semin Cell Dev Biol. 2020. PMID: 31611080 Review.
Mitochondrial Diseases: A Diagnostic Revolution.
Schon KR, Ratnaike T, van den Ameele J, Horvath R, Chinnery PF. Schon KR, et al. Trends Genet. 2020 Sep;36(9):702-717. doi: 10.1016/j.tig.2020.06.009. Epub 2020 Jul 13. Trends Genet. 2020. PMID: 32674947 Review.
Opportunities for mitochondrial disease gene therapy.
Viscomi C, van den Ameele J, Meyer KC, Chinnery PF. Viscomi C, et al. Nat Rev Drug Discov. 2023 Jun;22(6):429-430. doi: 10.1038/d41573-023-00067-z. Nat Rev Drug Discov. 2023. PMID: 37106085 No abstract available.
58 results