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2011 Journal Article Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture riskDuncan, Emma L., Danoy, Patrick, Kemp, John P., Leo, Paul J., McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Reid, Ian R., Dennison, Elaine M., Wark, John, Richards, J. Brent, Uitterlinden, Andre G., Spector, Tim D., Esapa, Chris, Cox, Roger D., Brown, Steve D. M., Thakker, Rajesh V., Addison, Kathryn A., Bradbury, Linda A., Center, Jacqueline R., Cooper, Cyrus, Cremin, Catherine, Estrada, Karol, Felsenberg, Dieter, Glueer, Claus-C. ... Brown, Matthew A. (2011). Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7 (4) e1001372, e1001372.1-e1001372.10. doi: 10.1371/journal.pgen.1001372 |
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2011 Journal Article Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyKemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmuller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Taylor, Robert W. and Horvath, Rita (2011). Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain, 134 (1), 183-195. doi: 10.1093/brain/awq320 |
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2011 Journal Article Adult height variants affect birth length and growth rate in childrenPaternoster, Lavinia, Howe, Laura D., Tilling, Kate, Weedon, Michael N., Freathy, Rachel M., Frayling, Timothy M., Kemp, John P., Smith, George Davey, Timpson, Nicholas J., Ring, Susan M., Evans, David M. and Lawlor, Debbie A. (2011). Adult height variants affect birth length and growth rate in children. Human Molecular Genetics, 20 (20) ddr309, 4069-4075. doi: 10.1093/hmg/ddr309 |
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2010 Journal Article Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bonePaternoster, Lavinia, Lorentzon, Mattias, Vandenput, Liesbeth, Karlsson, Magnus K., Ljunggren, Osten, Kindmark, Andreas, Mellstrom, Dan, Kemp, John P., Jarett, Caroline E., Holly, Jeff M. P., Sayers, Adrian, St. Pourcain, Beate, Timpson, Nicholas J., Deloukas, Panos, Smith, George Davey, Ring, Ssusan M., Evans, David M., Tobias, Jon H. and Ohlsson, Claes (2010). Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bone. PLoS Genetics, 6 (11) e1001217, e1001217.1-e1001217.12. doi: 10.1371/journal.pgen.1001217 |
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2009 Journal Article Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyHorvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Andreas, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Guttab, Jayakar, Panul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Oku, Jorida, Gunther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmuller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar and Dimauro, Salvatore (2009). Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain, 132 (11), 3165-3174. doi: 10.1093/brain/awp221 |
