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2013

Journal Article

Genetic influences on trajectories of systolic blood pressure across childhood and adolescence

Howe, Laura D., Parmar, Priyakumari G., Paternoster, Lavinia, Warrington, Nicole M., Kemp, John P., Briollais, Laurent, Newnham, John P., Timpson, Nicholas J., Smith, George D., Ring, Susan M., Evans, David M., Tilling, Kate, Pennell, Craig E., Beilin, Lawrie J., Palmer, Lyle J. and Lawlor, Debbie A. (2013). Genetic influences on trajectories of systolic blood pressure across childhood and adolescence. Circulation: Cardiovascular Genetics, 6 (6), 608-614. doi: 10.1161/CIRCGENETICS.113.000197

Genetic influences on trajectories of systolic blood pressure across childhood and adolescence

2013

Journal Article

Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates

Evans, David M., Brion, Marie Jo A., Paternoster, Lavinia, Kemp, John P., McMahon, George, Munafo, Marcus, Whitfield, John B., Medland, Sarah E., Montgomery, Grant W., The GIANT consortium, The CRP consortium, The TAG Consortium, Timpson, Nicholas J., St. Pourcain, Beate, Lawlor, Debbie A., Martin, Nicholas G., Dehghan, Abbas, Hirschhorn, Joel and Davey Smith, George (2013). Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates. PLoS Genetics, 9 (10) e1003919, e1003919.1-e1003919.15. doi: 10.1371/journal.pgen.1003919

Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates

2012

Journal Article

Seventy-five genetic loci influencing the human red blood cell

van 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

Seventy-five genetic loci influencing the human red blood cell

2012

Journal Article

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

Zheng, 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

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

2012

Journal Article

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Estrada, 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

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

2012

Journal Article

A genome-wide association meta-analysis identifies new childhood obesity loci

Bradfield, 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

A genome-wide association meta-analysis identifies new childhood obesity loci

2012

Journal Article

Common variants at 12q15 and 12q24 are associated with infant head circumference

Taal, 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

Common variants at 12q15 and 12q24 are associated with infant head circumference

2012

Journal Article

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

Paternoster, 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

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

2012

Journal Article

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Paternoster, 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

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

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 locus

Medina-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

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

2011

Journal Article

Genome-wide population-based association study of extremely overweight young adults - the GOYA study

Paternoster, 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

Genome-wide population-based association study of extremely overweight young adults - the GOYA study

2011

Journal Article

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

Duncan, 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

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

2011

Journal Article

Adult height variants affect birth length and growth rate in children

Paternoster, 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

Adult height variants affect birth length and growth rate in children

2011

Journal Article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Kemp, 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

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

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 bone

Paternoster, 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

Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential Pleiotropic effects on bone

2009

Journal Article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Horvath, 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

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy