Publications

Found 17 results
Filters: Keyword is Genetic Variation  [Clear All Filters]
2019
Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M & Hudson G (2019) Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion 46, 302-306
2018
Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, Wilson I, Bashton M, Beck J, West J, Chen R, Haudenschild C, Bartha G, Luo S, Morris CM, Jones NS, Attems J & Chinnery PF (2018) High prevalence of focal and multi-focal somatic genetic variants in the human brain. Nat Commun 9, 4257
2016
Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AVictoria, Sánchez-Cabo F, Torroja C, Acín-Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana MLuisa, Romanos E, Cruz R, Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J, Murphy MP, Flores I, Vázquez J & Enríquez JAntonio (2016) Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature 535, 561-5
2013
Narendra DP, Wang C, Youle RJ & Walker JE (2013) PINK1 rendered temperature sensitive by disease-associated and engineered mutations. Hum Mol Genet 22, 2572-89
2010
Samuels DC, Wonnapinij P, Cree LM & Chinnery PF (2010) Reassessing evidence for a postnatal mitochondrial genetic bottleneck. Nat Genet 42, 471-2; author reply 472-3
2009
Canzian F, Kaaks R, Cox DG, Henderson KD, Henderson BE, Berg C, Bingham S, Boeing H, Buring J, Calle EE, Chanock S, Clavel-Chapelon F, Dossus L, Feigelson HSpencer, Haiman CA, Hankinson SE, Hoover R, Hunter DJ, Isaacs C, Lenner P, Lund, iv E, Overvad K, Palli D, Pearce CLeigh, Quirós JR, Riboli E, Stram DO, Thomas G, Thun MJ, Trichopoulos D, van Gils CH & Ziegler RG (2009) Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). BMC Cancer 9, 257
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JHua, Heath SC, Eyheramendy S, Papadakis K, Voight BF, Scott LJ, Zhang F, Farrall M, Tanaka T, Wallace C, Chambers JC, Khaw K-T, Nilsson P, van der Harst P, Polidoro S, Grobbee DE, N Onland-Moret C, Bots ML, Wain LV, Elliott KS, Teumer A, Luan J'an, Lucas G, Kuusisto J, Burton PR, Hadley D, McArdle WL, Brown M, Dominiczak A, Newhouse SJ, Samani NJ, Webster J, Zeggini E, Beckmann JS, Bergmann S, Lim N, Song K, Vollenweider P, Waeber G, Waterworth DM, Yuan X, Groop L, Orho-Melander M, Allione A, Di Gregorio A, Guarrera S, Panico S, Ricceri F, Romanazzi V, Sacerdote C, Vineis P, Barroso I, Sandhu MS, Luben RN, Crawford GJ, Jousilahti P, Perola M, Boehnke M, Bonnycastle LL, Collins FS, Jackson AU, Mohlke KL, Stringham HM, Valle TT, Willer CJ, Bergman RN, Morken MA, Döring A, Gieger C, Illig T, Meitinger T, Org E, Pfeufer A, H Wichmann E, Kathiresan S, Marrugat J, O'Donnell CJ, Schwartz SM, Siscovick DS, Subirana I, Freimer NB, Hartikainen A-L, McCarthy MI, O'Reilly PF, Peltonen L, Pouta A, de Jong PE, Snieder H, van Gilst WH, Clarke R, Goel A, Hamsten A, Peden JF, Seedorf U, Syvänen A-C, Tognoni G, Lakatta EG, Sanna S, Scheet P, Schlessinger D, Scuteri A, Dörr M, Ernst F, Felix SB, Homuth G, Lorbeer R, Reffelmann T, Rettig R, Völker U, Galan P, Gut IG, Hercberg S, G Lathrop M, Zelenika D, Deloukas P, Soranzo N, Williams FM, Zhai G, Salomaa V, Laakso M, Elosua R, Forouhi NG, Völzke H, Uiterwaal CS, van der Schouw YT, Numans ME, Matullo G, Navis G, Berglund G, Bingham SA, Kooner JS, Connell JM, Bandinelli S, Ferrucci L, Watkins H, Spector TD, Tuomilehto J, Altshuler D, Strachan DP, Laan M, Meneton P, Wareham NJ, Uda M, Jarvelin M-R, Mooser V, Melander O, Loos RJF, Elliott P, Abecasis GR, Caulfield M & Munroe PB (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41, 666-76
Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, H Bueno-de-Mesquita B, Gross M, Helzlsouer K, Jacobs EJ, LaCroix A, Zheng W, Albanes D, Bamlet W, Berg CD, Berrino F, Bingham S, Buring JE, Bracci PM, Canzian F, Clavel-Chapelon F, Clipp S, Cotterchio M, de Andrade M, Duell EJ, Fox JW, Gallinger S, J Gaziano M, Giovannucci EL, Goggins M, González CA, Hallmans G, Hankinson SE, Hassan M, Holly EA, Hunter DJ, Hutchinson A, Jackson R, Jacobs KB, Jenab M, Kaaks R, Klein AP, Kooperberg C, Kurtz RC, Li D, Lynch SM, Mandelson M, McWilliams RR, Mendelsohn JB, Michaud DS, Olson SH, Overvad K, Patel AV, Peeters PHM, Rajkovic A, Riboli E, Risch HA, Shu X-O, Thomas G, Tobias GS, Trichopoulos D, Van Den Eeden SK, Virtamo J, Wactawski-Wende J, Wolpin BM, Yu H, Yu K, Zeleniuch-Jacquotte A, Chanock SJ, Hartge P & Hoover RN (2009) Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet 41, 986-90
2008
Loos RJF, Lindgren CM, Li S, Wheeler E, Zhao JHua, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GDavey, Day I, Dina C, De S, Dermitzakis ET, Doney ASF, Elliott KS, Elliott P, Evans DM, I Farooqi S, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann H-E, Herrera B, Hinney A, Hunt SE, Jarvelin M-R, Johnson T, Jolley JDM, Karpe F, Keniry A, Khaw K-T, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CNA, Papadakis K, Potter S, Pouta A, Qi L, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M, Vogel CIGanz, Wallace C, Waterworth DM, Weedon MN, Willer CJ, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I, Jacobs KB, Chanock SJ, Hayes RB, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann H-E, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Lyon HN, Voight BF, Ridderstrale M, Groop L, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Jackson AU, Tuomilehto J, Collins FS, Boehnke M & Mohlke KL (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 40, 768-75
Amo T, Yadava N, Oh R, Nicholls DG & Brand MD (2008) Experimental assessment of bioenergetic differences caused by the common European mitochondrial DNA haplogroups H and T. Gene 411, 69-76
Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JHua, Song K, Yuan X, Johnson T, Ashford S, Inouye M, Luben R, Sims M, Hadley D, McArdle W, Barter P, Y Kesäniemi A, Mahley RW, McPherson R, Grundy SM, Bingham SA, Khaw K-T, Loos RJF, Waeber G, Barroso I, Strachan DP, Deloukas P, Vollenweider P, Wareham NJ & Mooser V (2008) LDL-cholesterol concentrations: a genome-wide association study. Lancet 371, 483-91
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MConcetta, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MTeresa, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio ARita & Valente EMaria (2008) PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 29, 565
2007
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino MLucia, Huoponen K, Savontaus M-L, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R, Griffiths P, Yu-Wai-Man P, de Coo RFM, Horvath R, Zeviani M, Smeets HJT, Torroni A & Chinnery PF (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81, 228-33
2006
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ & Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67, 1698-700
2003
Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F & Turnbull DM (2003) Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol 54, 521-4
Bolser D, Dafas P, Harrington R, Park J & Schroeder M (2003) Visualisation and graph-theoretic analysis of a large-scale protein structural interactome. BMC Bioinformatics 4, 45
2001
Wittig I, Augstein P, Brown GK, Fujii T, Rotig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M & Wehnert MS (2001) Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. J Inherit Metab Dis 24, 15-27