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2013 Conference Publication Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCTKemp, John P., Sayers, Adrian, Evans, David M., Paternoster, Lavinia, Deere, Kevin, Lorentzon, Mattias, Lehtimaki, Terho, Eriksson, Joel, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Sievanen, Harri, Viikari, Jorma, Lyytikainen, Leo-Pekka, Fraser, William D., Vandenput, Liesbeth, Ohlsson, Claes and Tobias, Jonathan H. (2013). Does bone resorption stimulate periosteal expansion? A cross-sectional analysis of beta-C-telopeptides of type I collagen (CTX), genetic markers of the RANKL pathway, and periosteal circumference as measured by pQCT. Annual Meeting of the American Society for Bone and Mineral Research, Baltimore, MD, United States, 4-7 October 2013. Hoboken, NJ, United States: Wiley-Blackwell. |
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2013 Journal Article A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white EuropeansGuggenheim, Jeremy A., McMahon, George, Kemp, John P., Akhtar, Saeed, St Pourcain, Beate, Northstone, Kate, Ring, Susan M., Evans, David M., Smith, George Davey, Timpson, Nicholas J. and Williams, Cathy (2013). A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans. Molecular Vision, 19, 243-253. |
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2013 Journal Article Body stature growth trajectories during childhood and the development of myopiaNorthstone, Kate, Guggenheim, Jeremy A., Howe, Laura D., Tilling, Kate, Paternoster, Lavinia, Kemp, John P., McMahon, George and Williams, Cathy (2013). Body stature growth trajectories during childhood and the development of myopia. Ophthalmology, 120 (5), 1064-1073. doi: 10.1016/j.ophtha.2012.11.004 |
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2012 Journal Article Seventy-five genetic loci influencing the human red blood cellvan der Harst, Pim, Zhang, Weihua, Leach, Irene Mateo, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tonu, Evans, David M., Franke, Lude, Goegele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula ... Chambers, John C. (2012). Seventy-five genetic loci influencing the human red blood cell. Nature, 492 (7429), 369-375. doi: 10.1038/nature11677 |
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2012 Journal Article WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture riskZheng, Hou-Feng, Tobias, Jon H., Duncan, Emma, Evans, David M., Eriksson, Joel, Paternoster, Lavinia, Yerges-Armstrong, Laura M., Lehtimaki, Terho, Bergstrom, Ulrica, Kahonen, Mika, Leo, Paul J., Raitakari, Olli, Laaksonen, Marika, Nicholson, Geoffrey C., Viikari, Jorma, Ladouceur, Martin, Lyytikainen, Leo-Pekka, Medina-Gomez, Carolina, Rivadeneira, Fernando, Prince, Richard L., Sievanen, Harri, Leslie, William D., Mellstrom, Dan, Eisman, John A., Moverare-Skrtic, Sofia, Goltzman, David, Hanley, David A., Jones, Graeme, Pourcain, Beate St. ... Lorentzon, Mattias (2012). WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. Plos Genetics, 8 (7) e1002745, e1002745.1-e1002745.13. doi: 10.1371/journal.pgen.1002745 |
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2012 Journal Article A genome-wide association meta-analysis identifies new childhood obesity lociBradfield, Jonathan P., Taal, H. Rob, Timpson, Nicholas J., Scherag, André, Lecoeur, Cecile, Warrington, Nicole M., Hypponen, Elina, Holst, Claus, Valcarcel, Beatriz, Thiering, Elisabeth, Salem, Rany M., Schumacher, Fredrick R., Cousminer, Diana L., Sleiman, Patrick M. A., Zhao, Jianhua, Berkowitz, Robert I., Vimaleswaran, Karani S., Jarick, Ivonne, Pennell, Craig E., Evans, David M., St Pourcain, Beate, Berry, Diane J., Mook-Kanamori, Dennis O., Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, André G., van Duijn, Cornelia M., van der Valk, Ralf J. P., de Jongste, Johan C. ... Grant, Struan F. A. (2012). A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics, 44 (5), 526-531. doi: 10.1038/ng.2247 |
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2012 Journal Article Common variants at 12q15 and 12q24 are associated with infant head circumferenceTaal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J. ... Middeldorp, Christel (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5), 532-538. doi: 10.1038/ng.2238 |
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2012 Journal Article Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureEstrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M. E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching-Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M., Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville ... Rivadeneira, Fernando (2012). Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44 (5), 491-501. doi: 10.1038/ng.2249 |
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2012 Journal Article Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion positionPaternoster, Lavinia, Zhurov, Alexei I., Toma, Arshed M., Kemp, John P., St. Pourcain, Beate, Timpson, Nicholas J., McMahon, George, McArdle, Wendy, Ring, Susan M., Smith, George Davey, Richmond, Stephen and Evans, David M. (2012). Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. American Journal of Human Genetics, 90 (3), 478-485. doi: 10.1016/j.ajhg.2011.12.021 |
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2012 Journal Article Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitisPaternoster, Lavinia, Standl, Marie, Chen, Chi-Mei, Ramasamy, Adaikalavan, Bonnelykke, Klaus, Duijts, Liesbeth, Ferreira, Manuel A., Alves, Alexessander C., Thyssen, Jacob P., Albrecht, Eva, Baurecht, Hansjorg, Feenstra, Bjarke, Sleiman, Patrick M. A., Hysi, Piro, Warrington, Nicole M., Curjuric, Ivan, Myhre, Ronny, Curtin, John A., Groen-Blokhuis, Maria M., Kerkhof, Marjan, Saaf, Annika, Franke, Andre, Ellinghaus, David, Folster-Holst, Regina, Dermitzakis, Emmanouil, Montgomery, Stephen B., Prokisch, Holger, Heim, Katharina, Hartikainen, Anna-Lisa ... EArly Genetics Lifecourse Epidemiology (EAGLE) Consortium (2012). Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature Genetics, 44 (2), 187-192. doi: 10.1038/ng.1017 |
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2012 Conference Publication Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity, pleiotropy and age-specific effects at the WNT16 locusMedina-Gomez, C., Kemp, J. P., Estrada, K., Eriksson, J., Liu, J., Reppe, S., Evans, D. M., Heppe, D., van den Put, L., Herrera, L., Ring, S. M., Kruithof, C., Timpson, N. J., Zillikens, M. C., Olstad, O. K., St Pourcain, B., Hofman, A., Jaddoe, V. W., Smith, G. D., Lorentzon, M., Gautvik, K. M., Uitterlinden, A. G., Brommage, R., Ohlsson, C., Tobias, J. H. and Rivadeneira, F. (2012). Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity, pleiotropy and age-specific effects at the WNT16 locus. 39th Annual Congress of the European-Calcified-Tissue-Society (ECTS), Stockholm Sweden, May 19-23, 2012. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.bone.2012.02.085 |
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2012 Conference Publication A Genome-Wide Association Meta-Analysis and a Mouse Gene Deletion Model Identify Wnt16 as a Potential Regulator of Cortical Bone ThicknessTobias, Jonathan, Ohlsson, Claes, Paternoster, Lavinia, Lehtimaki, Terho, Kahonen, Mika, Raitakari, Olli, Laaksonen, Marika, Viikari, Jorma, Mellstrom, Dan, Moverare-Skitric, Sofia, Karlsson, Magnus, Ljunggren, Osten, Kemp, John P., Nethander, Maria, Vandenput, Liesbeth, Brommage, Robert, Liu, Jeff, Evans, David M. and Lorentzon, Mattias (2012). A Genome-Wide Association Meta-Analysis and a Mouse Gene Deletion Model Identify Wnt16 as a Potential Regulator of Cortical Bone Thickness. Osteoporosis and Bone Conference, Manchester England, Jul 01-04, 2012. LONDON: SPRINGER LONDON LTD. |
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2012 Journal Article Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locusMedina-Gomez, Carolina, Kemp, John P., Estrada, Karol, Eriksson, Joel, Liu, Jeff, Reppe, Sjur, Evans, David M., Heppe, Denise H. M., Vandenput, Liesbeth, Herrera, Lizbeth, Ring, Susan M., Kruithof, Claudia J., Timpson, Nicholas J., Zillikens, M.C., Olstad, Ole K., Zheng, Hou-Feng, Richards, J. Brent, St. Pourcain, Beate, Hofman, Albert, Jaddoe, Vincent W. V., Smith, George Davey, Lorentzon, Mattias, Gautvik, Kaare M., Uitterlinden, Andre G., Brommage, Robert, Ohlsson, Claes, Tobias, Jonathan H. and Rivadeneira, Fernando (2012). Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. PLoS Genetics, 8 (7) e1002718, e1002718.1-e1002718.14. doi: 10.1371/journal.pgen.1002718 |
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2012 Conference Publication Meta-Analysis of Genome-Wide Scans for Total Body Bmd Reveals An Interaction with Weight Bearing At the Wnt16 LocusKemp, John P., Medina-Gomez, Carolina, Estrada, Karol, Eriksson, Joel, Liu, Jeff, Reppe, Sjur, Evans, David M., Heppe, Denise, VandenPut, Liesbeth, Herrera, Lizbeth, Ring, Susan M., Kruithof, Claudia, Timpson, Nicholas J., Zillikens, M. Carola, Olstad, Ole K., Zheng, Hou-Feng, Richards, Brent, St Pourcain, Beate, Hofman, Albert, Jaddoe, Vincent W., Smith, George Davey, Lorentzon, Mattias, Gautvik, Kaare M., Uitterlinden, Andre G., Brommage, Robert, Ohlsson, Claes, Tobias, Jonathan H. and Rivadeneira, Fernando (2012). Meta-Analysis of Genome-Wide Scans for Total Body Bmd Reveals An Interaction with Weight Bearing At the Wnt16 Locus. Osteoporosis and Bone Conference, Manchester England, Jul 01-04, 2012. LONDON: SPRINGER LONDON LTD. |
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2011 Journal Article Genome-wide population-based association study of extremely overweight young adults - the GOYA studyPaternoster, Lavinia, Evans, David M., Aagaard Nohr, Ellen, Holst, Claus, Gaborieau, Valerie, Brennan, Paul, Prior Gjesing, Anette, Grarup, Niels, Witte, Daniel R., Jorgensen, Torben, Linneberg, Allan, Lauritzen, Torsten, Sandbaek, Anelli, Hansen, Torben, Pedersen, Oluf, Elliott, Katherine S., Kemp, John P., St. Pourcain, Beate, McMahon, George, Zelenika, Diana, Hager, Jorg, Lathrop, Mark, Timpson, Nicholas J., Smith, George Davey and Sorensen, Thorkild I. A. (2011). Genome-wide population-based association study of extremely overweight young adults - the GOYA study. PLoS One, 6 (9) e24303, e24303.1-e24303.9. doi: 10.1371/journal.pone.0024303 |
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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 |
