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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 |
