Biparental inheritance of mitochondrial DNA revisited by Pagnamenta, AT, Wei, W, Rahman, S, Chinnery, PF

Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community t... by Cake, C, Ogburn, E, Pinches, H, Coleman, G, Seymour, D, Woodard, F, Manohar, S, Monsur, M, Landray, M, Dalton, G, Morris, AD, Chinnery, PF, Hobbs, FDR, Butler, C

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans by Wei, W, Pagnamenta, AT, Gleadall, N, Sanchis-Juan, A, Stephens, J, Broxholme, J, Tuna, S, Odhams, CA, Genomics England Research Consortium, NIHR BioResource, Fratter, C, Turro, E, Caulfield, MJ, Taylor, JC, Rahman, S, Chinnery, PF

Frequency and signature of somatic variants in 1461 human brain exomes by Wei, W, Keogh, MJ, Aryaman, J, Golder, Z, Kullar, PJ, Wilson, I, Talbot, K, Turner, MR, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Sarraj, SA, Morris, CM, Ansorge, O, Jones, NS, Ironside, JW, Chinnery, PF

Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS—A multicentre case–control study by Shil, RSK, Seed, A, Franklyn, NE, Sargent, BF, Wood, GK, Huang, Y, Dodd, KC, Lilleker, JB, Pollak, TA, Defres, S, Jenkins, TM, Davies, NWS, Cousins, DA, Zandi, MS, Jackson, TA, Benjamin, LA, Easton, A, Solomon, T, Bradley, JR, Chinnery, PF, Smith, CJ, Nicholson, TR, Carson, A, Thomas, RH

Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study by Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency by Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF, Munro, B, Wei, W, Boczonadi, V, Poulton, J, Pyle, A, Calabrese, C, Gomez-Duran, A, Schara, U, Pitceathly, RDS, Hanna, MG, Joost, K, Cotta, A, Paim, JF, Navarro, MM, Duff, J, Mattman, A, Chapman, K, Servidei, S, Della Marina, A, Uusimaa, J, Roos, A, Mootha, V, Hirano, M, Tulinius, M, Giri, M, Hoffmann, EP, Lochmüller, H, DiMauro, S, Minczuk, M, Chinnery, PF, Müller, JS, Horvath, R

Germline selection shapes human mitochondrial DNA diversity by Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Ashford, S, Penkett, CJ, Stirrups, KE, Rendon, A, Ouwehand, WH, Bradley, JR, Raymond, FL, Caulfield, M, Turro, E, Chinnery, PF

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, J, Tucci, A, Cipriani, V, Demidov, G, Rocca, C, Senderek, J, Butryn, M, Velic, A, Lam, T, Galanaki, E, Cali, E, Vestito, L, Maroofian, R, Deininger, N, Rautenberg, M, Admard, J, Hahn, G-A, Bartels, C, van Os, NJH, Horvath, R, Chinnery, PF, Tiet, MY, Hewamadduma, C, Hadjivassiliou, M, Tofaris, GK, Genomics England Research Consortium, Wood, NW, Hayer, SN, Bender, F, Menden, B, Cordts, I, Klein, K, Nguyen, HP, Krauss, JK, Blahak, C, Strom, TM, Sturm, M, van de Warrenburg, B, Lerche, H, Maček, B, Synofzik, M, Ossowski, S, Timmann, D, Wolf, ME, Smedley, D, Riess, O, Schöls, L, Houlden, H, Haack, TB, Hengel, H

Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses by Michael, BD, Dunai, C, Needham, EJ, Tharmaratnam, K, Williams, R, Huang, Y, Boardman, SA, Clark, JJ, Sharma, P, Subramaniam, K, Wood, GK, Collie, C, Digby, R, Ren, A, Norton, E, Leibowitz, M, Ebrahimi, S, Fower, A, Fox, H, Tato, E, Ellul, MA, Sunderland, G, Held, M, Hetherington, C, Egbe, FN, Palmos, A, Stirrups, K, Grundmann, A, Chiollaz, A-C, Sanchez, J-C, Stewart, JP, Griffiths, M, Solomon, T, Breen, G, Coles, AJ, Kingston, N, Bradley, JR, Chinnery, PF, Cavanagh, J, Irani, SR, Vincent, A, Baillie, JK, Openshaw, PJ, Semple, MG, Taams, LS, Menon, DK, Horby, PW, Klenerman, P, Merson, L, Sigfrid, L, Stuart, D, Lee, J, Plotkin, D, Carson, G, Duff, E, Miller, K, Husain, M, Harrison, PJ, Jezzard, P, Smith, S

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children by French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH, Raymond, FL