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2014 Journal Article Population-based estimates of the prevalence of <i>FMR1</i> expansion mutations in women with early menopause and primary ovarian insufficiencyMurray, Anna, Schoemaker, Minouk J., Bennett, Claire E., Ennis, Sarah, Macpherson, James N., Jones, Michael, Morris, Danielle H., Orr, Nick, Ashworth, Alan, Jacobs, Patricia A. and Swerdlow, Anthony J. (2014). Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. Genetics in Medicine, 16 (1), 19-24. doi: 10.1038/gim.2013.64 |
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2013 Journal Article Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smokingStephens, Sarah H., Hartz, Sarah M., Hoft, Nicole R., Saccone, Nancy L., Corley, Robin C., Hewitt, John K., Hopfer, Christian J., Breslau, Naomi, Coon, Hilary, Chen, Xiangning, Ducci, Francesca, Dueker, Nicole, Franceschini, Nora, Frank, Josef, Han, Younghun, Hansel, Nadia N., Jiang, Chenhui, Korhonen, Tellervo, Lind, Penelope A., Liu, Jason, Lyytikaeinen, Leo-Pekka, Michel, Martha, Shaffer, John R., Short, Susan E., Sun, Juzhong, Teumer, Alexander, Thompson, John R., Vogelzangs, Nicole, Vink, Jacqueline M. ... Ehringer, Marissa A. (2013). Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. Genetic Epidemiology, 37 (8), 846-859. doi: 10.1002/gepi.21760 |
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2013 Journal Article Estimating the sex-specific effects of genes on facial attractiveness and sexual dimorphismMitchem, Dorian G., Purkey, Alicia M., Grebe, Nicholas M., Carey, Gregory, Garver-Apgar, Christine E., Bates, Timothy C., Arden, Rosalind, Hewitt, John K., Medland, Sarah E., Martin, Nicholas G., Zietsch, Brendan P. and Keller, Matthew C. (2013). Estimating the sex-specific effects of genes on facial attractiveness and sexual dimorphism. Behavior Genetics, 44 (3), 270-281. doi: 10.1007/s10519-013-9627-5 |
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2013 Journal Article Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling PairsHemani, Gibran, Yang, Jian, Vinkhuyzen, Anna, Powell, Joseph E., Willemsen, Gonneke, Hottenga, Jouke-Jan, Abdellaoui, Abdel, Mangino, Massimo, Valdes, Ana M., Medland, Sarah E., Madden, Pamela A., Heath, Andrew C., Henders, Anjali K., Nyholt, Dale R., de Geus, Eco J. C., Magnusson, Patrik K. E., Ingelsson, Erik, Montgomery, Grant W., Spector, Timothy D., Boomsma, Dorret I., Pedersen, Nancy L., Martin, Nicholas G. and Visscher, Peter M. (2013). Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs. American Journal of Human Genetics, 93 (5), 865-875. doi: 10.1016/j.ajhg.2013.10.005 |
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2013 Journal Article Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'Robinson, E. B., Howrigan, D., Yang, J., Ripke, S., Anttila, V., Duncan, L. E., Jostins, L., Barrett, J. C., Medland, S. E., Macarthur, D. G., Breen, G., O'Donovan, M. C., Wray, N. R., Devlin, B., Daly, M. J., Visscher, P. M., Sullivan, P. F. and Neale, B. M. (2013). Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'. Molecular Psychiatry, 19 (8), 859-861. doi: 10.1038/mp.2013.125 |
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2013 Journal Article A SNP profiling panel for sample tracking in whole-exome sequencing studiesPengelly, Reuben J., Gibson, Jane, Andreoletti, Gaia, Collins, Andrew, Mattocks, Christopher J. and Ennis, Sarah (2013). A SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Medicine, 5 89. doi: 10.1186/gm492 |
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2013 Journal Article Genetic relationship between five psychiatric disorders estimated from genome-wide SNPsLee, S. Hong, Ripke, Stephan, Neale, Benjamin M., Faraone, Stephen V., Purcell, Shaun M., Perlis, Roy H., Mowry, Bryan J., Thapar, Anita, Goddard, Michael E., Witte, John S., Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole A., Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan E., Asherson, Philip, Azevedo, Maria H., Backlund, Lena, Badner, Judith A., Bailey, Anthony J., Banaschewski, Tobias, Barchas, Jack D., Barnes, Michael R., Barrett, Thomas B., Bass, Nicholas ... Wray, Naomi R. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45 (9), 984-995. doi: 10.1038/ng.2711 |
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2013 Journal Article Genetic variants associated with disordered eatingWade, Tracey D., Gordon, Scott, Medland, Sarah, Bulik, Cynthia M., Heath, Andrew C., Montgomery, Grant W. and Martin, Nicholas G. (2013). Genetic variants associated with disordered eating. International Journal of Eating Disorders, 46 (6), 594-608. doi: 10.1002/eat.22133 |
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2013 Journal Article Meta-analysis of gene-level associations for rare variants based on single-variant statisticsHu, Yi-Juan, Berndt, Sonja I., Gustafsson, Stefan, Ganna, Andrea, Hirschhorn, Joel, North, Kari E., Ingelsson, Erik, Lin, Dan-Yu, Collins, Francis S., Berndt, Sonja I., Gustafsson, Stefan, Ma¨gi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, To˜nu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian’an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W. ... Ingelsson, Erik (2013). Meta-analysis of gene-level associations for rare variants based on single-variant statistics. American Journal of Human Genetics, 93 (2), 236-248. doi: 10.1016/j.ajhg.2013.06.011 |
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2013 Journal Article GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin associationRentería, Miguel E., Coolen, Marcel W., Statham, Aaron L., Choi, R. Seong Min, Qu, Wenjia, Campbell, Megan J., Smith, Sara, Henders, Anjali K., Montgomery, Grant W., Clark, Susan J., Martin, Nicholas G. and Medland, Sarah E. (2013). GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. Twin Research and Human Genetics, 16 (4), 767-781. doi: 10.1017/thg.2013.30 |
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2013 Journal Article Age-related Macular Degeneration and Modification of Systemic Complement Factor H Production Through Liver TransplantationKhandhadia, Samir, Hakobyan, Svetlana, Heng, Ling Z., Gibson, Jane, Adams, David H., Alexander, Graeme J., Gibson, Jonathan M., Martin, Keith R., Menon, Geeta, Nash, Kathryn, Sivaprasad, Sobha, Ennis, Sarah, Cree, Angela J., Morgan, B. Paul and Lotery, Andrew J. (2013). Age-related Macular Degeneration and Modification of Systemic Complement Factor H Production Through Liver Transplantation. Ophthalmology, 120 (8), 1612-1618. doi: 10.1016/j.ophtha.2013.01.004 |
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2013 Journal Article High loading of polygenic risk for ADHD in children with comorbid aggressionHamshere, Marian L., Langley, Kate, Martin, Joanna, Agha, Sharifah Shameem, Stergiakouli, Evangelia, Anney, Richard J.L., Buitelaar, Jan, Faraone, Stephen V., Lesch, Klaus-Peter, Neale, Benjamin M., Franke, Barbara, Sonuga-Barke, Edmund, Asherson, Philip, Merwood, Andrew, Kuntsi, Jonna, Medland, Sarah E., Ripke, Stephan, Steinhausen, Hans-Christoph, Freitag, Christine, Reif, Andreas, Renner, Tobias J., Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Meyer, Jobst, Palmason, Haukur, Vasquez, Alejandro Arias, Lambregts-Rommelse, Nanda, Roeyers, Herbert ... Thapar, Anita (2013). High loading of polygenic risk for ADHD in children with comorbid aggression. American Journal of Psychiatry, 170 (8), 909-916. doi: 10.1176/appi.ajp.2013.12081129 |
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2013 Journal Article Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disordersden Hoed, Marcel, Eijgelsheim, Mark, Esko, Tonu, Brundel, Bianca J. J. M., Peal, David S., Evans, David M., Nolte, Ilja M., Segre, Ayellet V., Holm, Hilma, Handsaker, Robert E., Westra, Harm-Jan, Johnson, Toby, Isaacs, Aaron, Yang, Jian, Lundby, Alicia, Zhao, Jing Hua, Kim, Young Jin, Go, Min Jin, Almgren, Peter, Bochud, Murielle, Boucher, Gabrielle, Cornelis, Marilyn C., Gudbjartsson, Daniel, Hadley, David, van der Harst, Pim, Hayward, Caroline, den Heijer, Martin, Igl, Wilmar, Jackson, Anne U. ... Loos, Ruth J. F. (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45 (6), 621-634. doi: 10.1038/ng.2610 |
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2013 Journal Article Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric TraitsRandall, Joshua C., Winkler, Thomas W., Kutalik, Zoltan, Berndt, Sonja I., Jackson, Anne U., Monda, Keri L., Kilpelaeinen, Tuomas O., Esko, Tonu, Maegi, Reedik, Li, Shengxu, Workalemahu, Tsegaselassie, Feitosa, Mary F., Croteau-Chonka, Damien C., Day, Felix R., Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Locke, Adam E., Mathieson, Iain, Scherag, Andre, Vedantam, Sailaja, Wood, Andrew R., Liang, Liming, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Dermitzakis, Emmanouil T., Dimas, Antigone S., Karpe, Fredrik, Min, Josine L. ... MAGIC Investigators (2013). Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. Plos Genetics, 9 (6) e1003500, e1003500.1-e1003500.19. doi: 10.1371/journal.pgen.1003500 |
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2013 Journal Article GWAS of 126,559 individuals identifies genetic variants associated with educational attainmentRietveld, Cornelius A., Medland, Sarah E., Derringer, Jaime, Yang, Jian, Esko, Tonu, Martin, Nicolas W., Westra, Harm-Jan, Shakhbazov, Konstantin, Abdellaoui, Abdel, Agrawal, Arpana, Albrecht, Eva, Alizadeh, Behrooz Z., Amin, Najaf, Bamard, John, Baumeister, Sebastian E., Benke, Kelly S., Bielak, Lawrence F., Boatman, Jeffrey A., Boyle, Patricia A., Davies, Gail, De Leeuw, Christiaan, Eklund, Niina, Evans, Daniel S., Ferhmann, Rudolf, Fischer, Krista, Gieger, Christian, Gjessing, Hakon K., Haegg, Sara, Harris, Jennifer R. ... Koellinger, Philipp D. (2013). GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science, 340 (6139), 1467-1471. doi: 10.1126/science.1235488 |
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2013 Journal Article Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architectureBerndt, Sonja I., Gustafsson, Stefan, Maegi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian'an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Hu, Yi-Juan, Lee, Sang Hong, Liang, Liming, Lin, Dan-Yu, Min, Josine L., Neale, Benjamin M., Thorleifsson, Gudmar ... Ingelsson, Erik (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics, 45 (5), 501-U69. doi: 10.1038/ng.2606 |
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2013 Journal Article First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic ChipKeating, Brendan, Bansal, Aruna T., Walsh, Susan, Millman, Jonathan, Newman, Jonathan, Kidd, Kenneth, Budowle, Bruce, Eisenberg, Arthur, Donfack, Joseph, Gasparini, Paolo, Budimlija, Zoran, Henders, Anjali K., Chandrupatla, Hareesh, Duffy, David L., Gordon, Scott D., Hysi, Pirro, Liu, Fan, Medland, Sarah E., Rubin, Laurence, Martin, Nicholas G., Spector, Timothy D. and Kayser, Manfred (2013). First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. International Journal of Legal Medicine, 127 (3), 559-572. doi: 10.1007/s00414-012-0788-1 |
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2013 Journal Article Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patientsDocherty, L. E., Kabwama, S., Lehmann, A., Hawke, E., Harrison, L., Flanagan, S. E., Ellard, S., Hattersley, A. T., Shield, J. P. H., Ennis, S., Mackay, D. J. G. and Temple, I. K. (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia, 56 (4), 758-762. doi: 10.1007/s00125-013-2832-1 |
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2013 Journal Article Mining the Human Phenome Using Allelic Scores That Index Biological IntermediatesEvans, 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 |
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2013 Journal Article A genome-wide association study for reading and language abilities in two population cohortsLuciano, M., Evans, D. M., Hansell, N. K., Medland, S. E., Montgomery, G. W., Martin, N. G., Wright, M. J. and Bates, T. C. (2013). A genome-wide association study for reading and language abilities in two population cohorts. Genes, Brain and Behavior, 12 (6), 645-652. doi: 10.1111/gbb.12053 |
