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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, Attwood, A, Brown, M, Brod, NC, Crisp-Hihn, A, Davis, J, Deevi, SVV, Dewhurst, EF, Edwards, K, Erwood, M, Fox, J, Frary, AJ, Hu, F, Jolley, J, Kingston, N, Linger, R, Mapeta, R, Martin, J, Meacham, S, Papadia, S, Rayner-Matthews, PJ, Samarghitean, C, Shamardina, O, Simeoni, I, Staines, S, Staples, E, Stark, H, Stephens, J, Titterton, C, Von Ziegenweidt, J, Watt, C, Whitehorn, D, Wood, Y, Yates, K, Yu, P, James, R, Ashford, S, Penkett, CJ, Stirrups, KE, Bariana, T, Lentaigne, C, Sivapalaratnam, S, Westbury, SK, Allsup, DJ, Bakchoul, T, Biss, T, Boyce, S, Collins, J, Collins, PW, Curry, NS, Downes, K, Dutt, T, Erber, WN, Evans, G, Everington, T, Favier, R, Gomez, K, Greene, D, Gresele, P, Hart, D, Kazmi, R, Kelly, AM, Lambert, M, Madan, B, Mangles, S, Mathias, M, Millar, C, Obaji, S, Peerlinck, K, Roughley, C, Schulman, S, Scully, M, Shapiro, SE, Sibson, K, Sims, MC, Tait, RC, Talks, K, Thys, C, Toh, C-H, Van Geet, C, Westwood, J-P, Mumford, AD, Ouwehand, WH, Freson, K, Laffan, MA, Tan, RYY, Harkness, K, Mehta, S, Muir, KW, Hassan, A, Traylor, M, Drazyk, AM, Parry, D, Ahmed, M, Kazkaz, H, Vandersteen, AM, Ormondroyd, E, Thomson, K, Dent, T, Buchan, RJ, Bueser, T, Carr-White, G, Cook, S, Daniels, MJ, Harper, AR, Ware, JS, Dixon, PH, Chambers, J, Cheng, F, Estiu, MC, Hague, WM, Marschall, H-U, Vazquez-Lopez, M, Arno, G, French, CE, Michaelides, M, Moore, AT, Sanchis-Juan, A, Carss, K, Raymond, FL, Chinnery, PF, Griffiths, P, Horvath, R, Hudson, G, Jurkute, N, Pyle, A, Yu-Wai-Man, P, Whitworth, J, Adlard, J, Armstrong, R, Brewer, C, Casey, R, Cole, TRP, Evans, DG, Greenhalgh, L, Hanson, HL, Hoffman, J, Izatt, L, Kumar, A, Lalloo, F, Ong, KR, Park, S-M, Searle, C, Side, L, Snape, K, Woodward, E, Tischkowitz, M, Grozeva, D, Kurian, MA, Themistocleous, AC, Gosal, D, Marshall, A, Matthews, E, McCarthy, MI, Renton, T, Rice, ASC, Vale, T, Walker, SM, Woods, CG, Thaventhiran, JE, Allen, HL, Savic, S, Alachkar, H, Antrobus, R, Baxendale, HE, Browning, MJ, Buckland, MS, Cooper, N, Edgar, JDM, Egner, W, Gilmour, KC, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Hayman, G, Herwadkar, A, Huissoon, AP, Jolles, S, Kelleher, P, Kumararatne, D, Longhurst, H, Lorenzo, LE, Lyons, PA, Maimaris, J, Noorani, S, Richter, A, Sargur, RB, Sewell, WAC, Thomas, D, Thomas, MJ, Worth, A, Yong, PFK, Kuijpers, TW, Thrasher, AJ, Levine, AP, Sadeghi-Alavijeh, O, Wong, EKS, Cook, HT, Chan, MMY, Hall, M, Harris, C, McAlinden, P, Marchbank, KJ, Marks, S, Maxwell, H, Mozere, M, Wessels, J, Johnson, SA, Bleda, M, Hadinnapola, C, Haimel, M, Swietlik, E, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P, Danesino, C, Eyries, M, Gall, H, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Holden, S, Houweling, A, Howard, LS, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A, Pepke-Zaba, J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M, Treacy, C, Trembath, R, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Wilkins, MR, Wort, SJ, Graf, S, Louka, E, Roy, NB, Rao, A, Ancliff, P, Babbs, C, Layton, DM, Mead, AJ, O'Sullivan, J, Okoli, S, Saleem, M, Bierzynska, A, Diz, CB, Colby, E, Ekani, MN, Satchell, S, Fowler, T, Rendon, A, Scott, R, Smedley, D, Thomas, E, Caulfield, M, Abbs, S, Burrows, N, Chitre, M, Gattens, M, Gurnell, M, Kelsall, W, Poole, KES, Ross-Russell, R, Spasic-Boskovic, O, Twiss, P, Wagner, A, Banka, S, Clayton-Smith, J, Douzgou, S, Abulhoul, L, Aurora, P, Bockenhauer, D, Cleary, M, Dattani, M, Ganesan, V, Pilkington, C, Rahman, S, Shah, N, Wedderburn, L, Compton, CJ, Deshpande, C, Fassihi, H, Haque, E, Josifova, D, Mohammed, SN, Robert, L, Rose, SJ, Ruddy, DM, Sarkany, RN, Sayer, G, Shaw, AC, Campbell, C, Gibson, K, Koelling, N, Lester, T, Nemeth, AH, Palles, C, Patel, S, Sen, A, Taylor, J, Tomlinson, IP, Malka, S, Browning, AC, Burn, J, De Soyza, A, Graham, J, Pearce, S, Quinton, R, Schaefer, AM, Wilson, BT, Wright, M, Simpson, M, Syrris, P, Bradley, JR, Turro, E
Publikováno v:
NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot & Daniels, M J 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science (New York, N.Y.), vol. 364, no. 6442 . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520
INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd0acfee6b4573c8d6320d0057b56790
Autor:
Adhya D; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Swarup V; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California., Nagy R; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Dutan L; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Shum C; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Valencia-Alarcón EP; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Jozwik KM; Cancer Research UK Cambridge Institute, Cambridge, United Kingdom., Mendez MA; Department of Forensic and Neurodevelopmental Sciences, Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Horder J; Department of Forensic and Neurodevelopmental Sciences, Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Loth E; Department of Forensic and Neurodevelopmental Sciences, Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Nowosiad P; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Lee I; Behavioural and Brain Sciences Unit, Population Policy Practice Programme, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Skuse D; Behavioural and Brain Sciences Unit, Population Policy Practice Programme, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Flinter FA; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom., Murphy D; Department of Forensic and Neurodevelopmental Sciences, Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., McAlonan G; Department of Forensic and Neurodevelopmental Sciences, Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Geschwind DH; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California; Department of Human Genetics, University of California, Los Angeles, Los Angeles, California., Price J; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom., Carroll J; Cancer Research UK Cambridge Institute, Cambridge, United Kingdom., Srivastava DP; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom. Electronic address: deepak.srivastava@kcl.ac.uk., Baron-Cohen S; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom.
Publikováno v:
Biological psychiatry [Biol Psychiatry] 2021 Mar 01; Vol. 89 (5), pp. 486-496. Date of Electronic Publication: 2020 Jun 23.
Autor:
Cetiner, Metin1 (AUTHOR) metin.cetiner@uk-essen.de, Finkelberg, Ilja1 (AUTHOR), Schiepek, Felix1 (AUTHOR), Pape, Lars1 (AUTHOR), Hirtz, Raphael1 (AUTHOR), Büscher, Anja K.1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 11/12/2024, Vol. 19 Issue 1, p1-22. 22p.
Autor:
Rheault MN; Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA., Savige J; Department of Medicine, Royal Melbourne Hospital, Victoria, Australia., Randles MJ; Wellcome Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK., Weinstock A; Alport Syndrome Foundation, Phoenix, AZ, USA., Stepney M; Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK., Turner AN; Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh, UK., Parziale G; Alport Syndrome Foundation, Phoenix, AZ, USA., Gross O; Clinic of Nephrology and Rheumatology, University Medicine Goettingen, Goettingen, Germany., Flinter FA; Department of Clinical Genetics, Guy's & St Thomas' NHS Foundation Trust, London, UK., Miner JH; Division of Nephrology, Washington University School of Medicine, St Louis, MO, USA., Lagas S; Alport Syndrome Foundation, Phoenix, AZ, USA., Gear S; Alport UK, Tetbury, UK., Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK. Rachel.Lennon@manchester.ac.uk.; Department of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. Rachel.Lennon@manchester.ac.uk.
Publikováno v:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2020 May; Vol. 35 (5), pp. 733-742. Date of Electronic Publication: 2019 May 01.
Autor:
Fisch, Kathleen M.1,2 (AUTHOR) kfisch@health.ucsd.edu, Rosenthal, Sara Brin1 (AUTHOR), Mark, Adam1 (AUTHOR), Sasik, Roman1 (AUTHOR), Nasamran, Chanond A.1 (AUTHOR), Clifford, Royce3,4 (AUTHOR), Derebery, M. Jennifer5 (AUTHOR), Boussaty, Ely3 (AUTHOR), Jepsen, Kristen6 (AUTHOR), Harris, Jeffrey3 (AUTHOR), Friedman, Rick A.3 (AUTHOR) rafriedman@health.ucsd.edu
Publikováno v:
BMC Genomics. 6/28/2024, Vol. 25 Issue 1, p1-12. 12p.
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. Jun2024, Vol. 16 Issue 2, p146-150. 5p.
Autor:
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, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF
Publikováno v:
Science (New York, N.Y.) [Science] 2019 May 24; Vol. 364 (6442). Date of Electronic Publication: 2019 May 23.
Autor:
Khouzani, Mohammad Shiravi1 (AUTHOR) mshiravi433@gmail.com, Kandasamy, Krishnaveni2 (AUTHOR)
Publikováno v:
Jentashapir Journal of Cellular & Molecular Biology. May2024, Vol. 15 Issue 2, p1-10. 10p.
Autor:
Salehi, Omar1, Mack, Heather2, Colville, Deb2, Lewis, Debbie3, Savige, Judy1 jasavige@unimelb.edu.au
Publikováno v:
Pediatric Nephrology. May2024, Vol. 39 Issue 5, p1327-1346. 20p.