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2017

Journal Article

Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

Tachmazidou, Ioanna, Suveges, Daniel, Min, Josine L., Ritchie, Graham R. S., Steinberg, Julia, Walter, Klaudia, Iotchkova, Valentina, Schwartzentruber, Jeremy, Huang, Jie, Memari, Yasin, McCarthy, Shane, Crawford, Andrew A., Bombieri, Cristina, Cocca, Massimiliano, Farmaki, Aliki-Eleni, Gaunt, Tom R., Jousilahti, Pekka, Kooijman, Marjolein N., Lehne, Benjamin, Malerba, Giovanni, Mannisto, Satu, Matchan, Angela, Medina-Gomez, Carolina, Metrustry, Sarah J., Nag, Abhishek, Ntalla, Ioanna, Paternoster, Lavinia, Rayner, Nigel W., Sala, Cinzia ... Zeggini, Eleftheria (2017). Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits. American Journal of Human Genetics, 100 (6), 865-884. doi: 10.1016/j.ajhg.2017.04.014

Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

2017

Journal Article

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

Zheng, Jie, Erzurumluoglu, A. Mesut, Elsworth, Benjamin L., Kemp, John P., Howe, Laurence, Haycock, Philip C., Hemani, Gibran, Tansey, Katherine, Laurin, Charles, St Pourcain, Beate, Warrington, Nicole M., Finucane, Hilary K., Price, Alkes L., Bulik-Sullivan, Brendan K., Anttila, Verneri, Paternoster, Lavinia, Gaunt, Tom R., Evans, David M. and Neale, Benjamin M. (2017). LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis. Bioinformatics, 33 (2), 272-279. doi: 10.1093/bioinformatics/btw613

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

2016

Journal Article

Why internal weights should be avoided (not only) in MR-Egger regression response

Kemp, John P., Sayers, Adrian, Smith, George Davey, Tobias, Jonathan H. and Evans, David M. (2016). Why internal weights should be avoided (not only) in MR-Egger regression response. International Journal of Epidemiology, 45 (5), 1678-1679. doi: 10.1093/ije/dyw241

Why internal weights should be avoided (not only) in MR-Egger regression response

2016

Journal Article

Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children

Kemp, John P., Sayers, Adrian, Smith, George Davey, Tobias, Jonathan H. and Evans, David M. (2016). Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children. International Journal of Epidemiology, 45 (5), 1560-1572. doi: 10.1093/ije/dyw079

Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children

2016

Journal Article

A genome-wide association meta-analysis of attention-deficit/hyperactivity disorder symptoms in population-based pediatric cohorts

Middeldorp, Christel M., Hammerschlag, Anke R., Ouwens, Klaasjan G., Groen-Blokhuis, Maria M., St Pourcain, Beate, Greven, Corina U., Pappa, Irene, Tiesler, Carla M. T., Ang, Wei, Nolte, Ilja M., Vilor-Tejedor, Natalia, Bacelis, Jonas, Ebejer, Jane L., Zhao, Huiying, Davies, Gareth E., Ehli, Erik A., Evans, David M., Fedko, Iryna O., Guxens, Monica, Hottenga, Jouke-Jan, Hudziak, James J., Jugessur, Astanand, Kemp, John P., Krapohl, Eva, Martin, Nicholas G., Murcia, Mario, Myhre, Ronny, Ormel, Johan, Ring, Susan M. ... Boomsma, Dorret I. (2016). A genome-wide association meta-analysis of attention-deficit/hyperactivity disorder symptoms in population-based pediatric cohorts. Journal of the American Academy of Child and Adolescent Psychiatry, 55 (10), 896-905.e6. doi: 10.1016/j.jaac.2016.05.025

A genome-wide association meta-analysis of attention-deficit/hyperactivity disorder symptoms in population-based pediatric cohorts

2016

Journal Article

Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

Pourcain, Beate St, Haworth, C. M. A., Davis, O. S. P., Wang, Kai, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ronald, Angelica, Price, Tom, Meaburn, Emma, Ring, Susan M., Golding, Jean, Hakonarson, Hakon, Plomin, R. and Smith, George Davey (2016). Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Human Genetics, 135 (8), 965-965. doi: 10.1007/s00439-016-1695-1

Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

2016

Journal Article

The case for genome-wide association studies of bone acquisition in paediatric and adolescent populations

Kemp, John P, Medina-Gomez, Carolina, Tobias, Jonathan H, Rivadeneira, Fernando and Evans, David M (2016). The case for genome-wide association studies of bone acquisition in paediatric and adolescent populations. BoneKEy reports, 5, 796. doi: 10.1038/bonekey.2016.23

The case for genome-wide association studies of bone acquisition in paediatric and adolescent populations

2016

Journal Article

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Fan, Qiao, Verhoeven, Virginie J. M., Wojciechowski, Robert, Barathi, Veluchamy A., Hysi, Pirro G., Guggenheim, Jeremy A., Hoehn, Rene, Vitart, Veronique, Khawaja, Anthony P., Yamashiro, Kenji, Hosseini, S. Mohsen, Lehtimaki, Terho, Lu, Yi, Haller, Toomas, Xie, Jing, Delcourt, Cecile, Pirastu, Mario, Wedenoja, Juho, Gharahkhani, Puya, Venturini, Cristina, Miyake, Masahiro, Hewitt, Alex W., Guo, Xiaobo, Mazur, Johanna, Huffman, Jenifer E., Williams, Katie M., Polasek, Ozren, Campbell, Harry, Rudan, Igor ... Makela, Kari Matti (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications, 7 (1) 11008, 11008-11008. doi: 10.1038/ncomms11008

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Journal Article

Common genetic variants influence whorls in fingerprint patterns

Ho, Yvonne Y. W., Evans, David M., Montgomery, Grant W., Henders, Anjali K., Kemp, John P., Timpson, Nicholas J., Pourcain, Beate St., Heath, Andrew C., Madden, Pamela A. F., Loesch, Danuta Z., McNevin, Dennis, Daniel, Runa, Davey-Smith, George, Martin, Nicholas G. and Medland, Sarah E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136 (4), 859-862. doi: 10.1016/j.jid.2015.10.062

Common genetic variants influence whorls in fingerprint patterns

2015

Journal Article

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Artigas, Maria Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma'en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikainen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John ... Zeggini, Eleftheria (2015). Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nature Communications, 6 (8658) 89658, 1-12. doi: 10.1038/ncomms9658

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

2015

Journal Article

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Paternoster, Lavinia, Standl, Marie, Waage, Johannes, Baurecht, Hansjoerg, Hotze, Melanie, Strachan, David P., Curtin, John A., Bonnelykke, Klaus, Tian, Chao, Takahashi, Atsushi, Esparza-Gordillo, Jorge, Alves, Alexessander Couto, Thyssen, Jacob P., den Dekker, Herman T., Ferreira, Manuel A., Altmaier, Elisabeth, Sleiman, Patrick M. A., Xiao, Feng Li, Gonzalez, Juan R., Marenholz, Ingo, Kalb, Birgit, Pino-Yanes, Maria, Xu, Cheng-Jian, Carstensen, Lisbeth, Groen-Blokhuis, Maria M., Venturini, Cristina, Pennell, Craig E., Barton, Sheila J., Levin, Albert M. ... Weidinger, Stephan (2015). Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nature Genetics, 47 (12), 1449-1456. doi: 10.1038/ng.3424

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

2015

Journal Article

Incorporating known genetic variants does not improve the accuracy of psa testing to identify high risk prostate cancer on biopsy

Gilbert, Rebecca, Martin, Richard M., Evans, David M., Tilling, Kate, Smith, George Davey, Kemp, John P., Lane, J. Athene, Hamdy, Freddie C., Neal, David E., Donovan, Jenny L. and Metcalfe, Chris (2015). Incorporating known genetic variants does not improve the accuracy of psa testing to identify high risk prostate cancer on biopsy. PL o S One, 10 (10) e136735, 1-17. doi: 10.1371/journal.pone.0136735

Incorporating known genetic variants does not improve the accuracy of psa testing to identify high risk prostate cancer on biopsy

2015

Journal Article

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Evans, David M., Kemp, John P., Visscher, Peter M. and Yang, Jian (2015). The UK10K project identifies rare variants in health and disease. Nature, 526 (7571), 82-89. doi: 10.1038/nature14962

The UK10K project identifies rare variants in health and disease

2015

Journal Article

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J., Dahia, Chitra L., Park-Min, Kyung Hyun, Tobias, Jonathan H., Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S., Nielson, Carrie M., Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui ... UK10K Consortium (2015). Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, 526 (7571), 112-117. doi: 10.1038/nature14878

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

2015

Journal Article

The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium

Davies, Neil M., Gaunt, Tom R., Lewis, Sarah J., Holly, Jeff, Donovan, Jenny L., Hamdy, Freddie C., Kemp, John P., Eeles, Rosalind, Easton, Doug, Kote-Jarai, Zsofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher A., Schleutker, Johanna, Nordestgaard, Børge G., Travis, Ruth C., Neal, David, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L., Blot, William J., Thibodeau, Stephen, Maier, Christiane, Kibel, Adam S., Cybulski, Cezary ... Martin, Richard M. (2015). The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium. Cancer Causes and Control, 26 (11), 1603-1616. doi: 10.1007/s10552-015-0654-9

The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium

2015

Journal Article

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, Soranzo, Nicole, UK10K Consortium, Evans, David M., Kemp, John P., Visscher, Peter M. and Yang, Jian (2015). Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications, 6 (1) 8111, 8111.1-8111.9. doi: 10.1038/ncomms9111

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

2015

Journal Article

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

van Den Berg, Stephanie M., de Moor, Marleen H.M., Verweij, Karin J.H., Krueger, Robert F., Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K., Derringer, Jaime, Esko, Tonu, Amin, Najaf, Gordon, Scott D., Hansell, Narelle K., Hart, Amy B., Seppala, Ilkka, Huffman, Jennifer, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abdellaoui, Abdel, Abecasis, Goncalo R., Adkins, Daniel E., Agrawal, Arpana, Allik, Juri ... Boomsma, Dorret I. (2015). Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium. Behavior Genetics, 46 (2), 170-182. doi: 10.1007/s10519-015-9735-5

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

2015

Journal Article

Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder

De Moor, Marleen H.M, Van Den Berg, Stephanie M, Verweij, Karin J.H, Krueger, Robert F, Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K, Derringer, Jaime, Esko, Tonu, Amin, Najaf, Gordon, Scott D, Hansell, Narelle K, Hart, Amy B, Seppala, Ilkka, Huffman, Jennifer E, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abecasis, Goncalo R, Adkins, Daniel E, Agrawal, Arpana, Allik, Juri, Appel, Katja ... Boomsma, Dorret I (2015). Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder. JAMA Psychiatry, 72 (7), 642-650. doi: 10.1001/jamapsychiatry.2015.0554

Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder

2015

Journal Article

A genome-wide approach to children's aggressive behavior: the EAGLE consortium

Pappa, Irene, St Pourcain, Beate, Benke, Kelly, Cavadino, Alana, Hakulinen, Christian, Nivard, Michel G., Nolte, Ilja M., Tiesler, Carla M. T., Bakermans-Kranenburg, Marian J., Davies, Gareth E., Evans, David M., Geoffroy, Marie-Claude, Grallert, Harald, Groen-Blokhuis, Maria M., Hudziak, James J., Kemp, John P., Keltikangas-Järvinen, Liisa, McMahon, George, Mileva-Seitz, Viara R., Motazedi, Ehsan, Power, Christine, Raitakari, Olli T., Ring, Susan M., Rivadeneira, Fernando, Rodriguez, Alina, Scheet, Paul A., Seppälä, Ilkka, Snieder, Harold, Standl, Marie ... Tiemeier, Henning (2015). A genome-wide approach to children's aggressive behavior: the EAGLE consortium. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 171 (5), 1-11. doi: 10.1002/ajmg.b.32333

A genome-wide approach to children's aggressive behavior: the EAGLE consortium

2015

Journal Article

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts, Miriam, Hou, Yuqing, Cortes, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B., Al-Turki, Saeed, Anderson, Carl ... Zheng, Hou-Feng (2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6 (7074) 7074, 1-13. doi: 10.1038/ncomms8074

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport