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2018 Conference Publication The contribution of common population variants to hypomorphic oculocutaneous albinism phenotypes: a novel tri-allelic <i>TYR</i> genotypeNorman, Chelsea Sarah, O'Gorman, Luke, Gibson, Jane, Pengelly, Reuben J., Baralle, Diana, Ratnayaka, J. Arjuna, Ennis, Sarah and Self, James E. (2018). The contribution of common population variants to hypomorphic oculocutaneous albinism phenotypes: a novel tri-allelic TYR genotype. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), Honolulu Hi, Apr 21-May 03, 2018. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. |
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2018 Journal Article Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamenHibar, Derrek P., Cheung, Joshua W., Medland, Sarah E., Mufford, Mary S., Jahanshad, Neda, Dalvie, Shareefa, Ramesar, Raj, Stewart, Evelyn, Van Den Heuvel, Odile A., Pauls, David L., Knowles, James A., Stein, Dan J. and Thompson, Paul M. (2018). Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamen. British Journal of Psychiatry, 213 (1), 430-436. doi: 10.1192/bjp.2018.62 |
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2018 Conference Publication <i>In</i>-<i>silico</i> prediction of novel splice altering variants in the myocilin gene in primary open angle glaucomaCree, Angela, O'Gorman, Luke, Griffiths, Helen, Lotery, Andrew, Gibson, Jane and Ennis, Sarah (2018). In-silico prediction of novel splice altering variants in the myocilin gene in primary open angle glaucoma. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), Honolulu Hi, Apr 21-May 03, 2018. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. |
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2018 Journal Article Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activitySmit, Dirk J. A., Wright, Margaret J., Meyers, Jacquelyn L., Martin, Nicholas G., Ho, Yvonne Y. W., Malone, Stephen M., Zhang, Jian, Burwell, Scott J., Chorlian, David B., de Geus, Eco J. C., Denys, Damiaan, Hansell, Narelle K., Hottenga, Jouke-Jan, McGue, Matt, van Beijsterveldt, Catharina E. M., Jahanshad, Neda, Thompson, Paul M., Whelan, Christopher D., Medland, Sarah E., Porjesz, Bernice, Lacono, William G. and Boomsma, Dorret I. (2018). Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. Human Brain Mapping, 39 (11), 4183-4195. doi: 10.1002/hbm.24238 |
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2018 Journal Article Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligenceSavage, Jeanne E., Jansen, Philip R., Stringer, Sven, Watanabe, Kyoko, Bryois, Julien, de Leeuw, Christiaan A., Nagel, Mats, Awasthi, Swapnil, Barr, Peter B., Coleman, Jonathan R. I., Grasby, Katrina L., Hammerschlag, Anke R., Kaminski, Jakob A., Karlsson, Robert, Krapohl, Eva, Lam, Max, Nygaard, Marianne, Reynolds, Chandra A., Trampush, Joey W., Young, Hannah, Zabaneh, Delilah, Hägg, Sara, Hansell, Narelle K., Karlsson, Ida K., Linnarsson, Sten, Montgomery, Grant W., Muñoz-Manchado, Ana B., Quinlan, Erin B., Schumann, Gunter ... Posthuma, Danielle (2018). Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nature Genetics, 50 (7), 912-919. doi: 10.1038/s41588-018-0152-6 |
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2018 Journal Article Extended twin study of alcohol use in Virginia and AustraliaVerhulst, Brad, Neale, Michael C., Eaves, Lindon J., Medland, Sarah E., Heath, Andrew C., Martin, Nicholas G. and Maes, Hermine H. (2018). Extended twin study of alcohol use in Virginia and Australia. Twin Research and Human Genetics, 21 (3), 163-178. doi: 10.1017/thg.2018.21 |
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2018 Journal Article Childhood aggression and the co-occurrence of behavioural and emotional problems: results across ages 3-16 years from multiple raters in six cohorts in the EU-ACTION projectBartels, Meike, Hendriks, Anne, Mauri, Matteo, Krapohl, Eva, Whipp, Alyce, Bolhuis, Koen, Conde, Lucia Colodro, Luningham, Justin, Fung Ip, Hill, Hagenbeek, Fiona, Roetman, Peter, Gatej, Raluca, Lamers, Audri, Nivard, Michel, van Dongen, Jenny, Lu, Yi, Middeldorp, Christel, van Beijsterveldt, Toos, Vermeiren, Robert, Hankemeijer, Thomas, Kluft, Cees, Medland, Sarah, Lundström, Sebastian, Rose, Richard, Pulkkinen, Lea, Vuoksimaa, Eero, Korhonen, Tellervo, Martin, Nicholas G., Lubke, Gitta ... Boomsma, Dorret I. (2018). Childhood aggression and the co-occurrence of behavioural and emotional problems: results across ages 3-16 years from multiple raters in six cohorts in the EU-ACTION project. European Child & Adolescent Psychiatry, 27 (9), 1-17. doi: 10.1007/s00787-018-1169-1 |
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2018 Journal Article Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depressionWray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till M. F., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan F. T., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas R. H., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan I. R., Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Crowley, Cheynna A. ... Sullivan, Patrick F. (2018). Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics, 50 (5), 668-+. doi: 10.1038/s41588-018-0090-3 |
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2018 Journal Article Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritabilityHysi, Pirro G., Valdes, Ana M., Liu, Fan, Furlotte, Nicholas A., Evans, David M., Bataille, Veronique, Visconti, Alessia, Hemani, Gibran, McMahon, George, Ring, Susan M., Smith, George Davey, Duffy, David L., Zhu, Gu, Gordon, Scott D., Medland, Sarah E., Lin, Bochao D., Willemsen, Gonneke, Jan Hottenga, Jouke, Vuckovic, Dragana, Girotto, Giorgia, Gandin, Ilaria, Sala, Cinzia, Concas, Maria Pina, Brumat, Marco, Gasparini, Paolo, Toniolo, Daniela, Cocca, Massimiliano, Robino, Antonietta, Yazar, Seyhan ... Spector, Timothy D. (2018). Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, 50 (5), 652-656. doi: 10.1038/s41588-018-0100-5 |
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2018 Journal Article Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in uteroWarrington, Nicole M., Shevroja, Enisa, Hemani, Gibran, Hysi, Pirro G., Jiang, Yunxuan, Auton, Adam, Boer, Cindy G., Mangino, Massimo, Wang, Carol A., Kemp, John P., McMahon, George, Medina-Gomez, Carolina, Hickey, Martha, Trajanoska, Katerina, Wolke, Dieter, Ikram, Arfan M., 23 and Me Research Team, Montgomery, Grant W., Felix, Janine F., Wright, Margaret J., Mackey, David A., Jaddoe, Vincent W., Martin, Nicholas G., Tung, Joyce Y., Davey Smith, George, Pennell, Craig E., Spector, Tim D., van Meurs, Joyce, Rivadeneira, Fernando ... Evans, David M. (2018). Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero. Human Molecular Genetics, 27 (11), 2025-2038. doi: 10.1093/hmg/ddy121 |
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2018 Journal Article Anticytokine autoantibodies in a patient with a heterozygous <i>NFKB2</i> mutationRamakrishnan, Kesava A., Rae, William, Barcenas-Morales, Gabriela, Gao, Yifang, Pengelly, Reuben J., Patel, Sanjay V., Kumararatne, Dinakantha S., Ennis, Sarah, Doffinger, Rainer, Faust, Saul N. and Williams, Anthony P. (2018). Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation. Journal of Allergy and Clinical Immunology, 141 (4), 1479-+. doi: 10.1016/j.jaci.2017.11.014 |
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2018 Journal Article Nineteen and Up study (19Up): Understanding pathways to mental health disorders in young Australian twinsCouvy-Duchesne, Baptiste, O'Callaghan, Victoria, Parker, Richard, Mills, Natalie, Kirk, Katherine M., Scott, Jan, Vinkhuyzen, Anna., Hermens, Daniel F., Lind, Penelope A., Davenport, Tracey A., Burns, Jane M., Connell, Melissa, Zietsch, Brendan P., Scott, James, Wright, Margaret J., Medland, Sarah E., McGrath, John, Martin, Nicholas G., Hickie, Ian B. and Gillespie, Nathan A. (2018). Nineteen and Up study (19Up): Understanding pathways to mental health disorders in young Australian twins. BMJ Open, 8 (3) e018959, 1-13. doi: 10.1136/bmjopen-2017-018959 |
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2018 Journal Article Publisher Correction: protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesityTurcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M. ... Loos, Ruth J. F. (2018). Publisher Correction: protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics, 50 (5), 1-2. doi: 10.1038/s41588-018-0082-3 |
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2018 Journal Article The Nature of Nurture: Using a Virtual-Parent Design to Test Parenting Effects on Children's Educational Attainment in Genotyped FamiliesBates, Timothy C., Maher, Brion S., Medland, Sarah E., McAloney, Kerrie, Wright, Margaret J., Hansell, Narelle K., Kendler, Kenneth S., Martin, Nicholas G. and Gillespie, Nathan A. (2018). The Nature of Nurture: Using a Virtual-Parent Design to Test Parenting Effects on Children's Educational Attainment in Genotyped Families. Twin Research and Human Genetics, 21 (2), 73-83. doi: 10.1017/thg.2018.11 |
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2018 Journal Article Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorderMühleisen, Thomas W., Reinbold, Céline S., Forstner, Andreas J., Abramova, Lilia I., Alda, Martin, Babadjanova, Gulja, Bauer, Michael, Brennan, Paul, Chuchalin, Alexander, Cruceanu, Cristiana, Czerski, Piotr M., Degenhardt, Franziska, Fischer, Sascha B., Fullerton, Janice M., Gordon, Scott D., Grigoroiu-Serbanescu, Maria, Grof, Paul, Hauser, Joanna, Hautzinger, Martin, Herms, Stefan, Hoffmann, Per, Kammerer-Ciernioch, Jutta, Khusnutdinova, Elza, Kogevinas, Manolis, Krasnov, Valery, Lacour, André, Laprise, Catherine, Leber, Markus, Lissowska, Jolanta ... Cichon, Sven (2018). Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder. Journal of Affective Disorders, 228, 20-25. doi: 10.1016/j.jad.2017.11.068 |
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2018 Journal Article Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal geneticsBeaumont, Robin N., Warrington, Nicole M., Cavadino, Alana, Tyrrell, Jessica, Nodzenski, Michael, Horikoshi, Momoko, Geller, Frank, Myhre, Ronny, Richmond, Rebecca C., Paternoster, Lavinia, Bradfield, Jonathan P., Kreiner-Møller, Eskil, Huikari, Ville, Metrustry, Sarah, Lunetta, Kathryn L., Painter, Jodie N., Hottenga, Jouke-Jan, Allard, Catherine, Barton, Sheila J., Espinosa, Ana, Marsh, Julie A., Potter, Catherine, Zhang, Ge, Ang, Wei, Berry, Diane J., Bouchard, Luigi, Das, Shikta, Early Growth Genetics (EGG) Consortium, Hakonarson, Hakon ... Freathy, Rachel M. (2018). Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Human Molecular Genetics, 27 (4) ddx429, 742-756. doi: 10.1093/hmg/ddx429 |
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2018 Journal Article No evidence of association of oxytocin polymorphisms with breastfeeding in 2 independent samplesColodro-Conde, L., Sánchez-Romera, J. F., Lind, P. A., Zhu, G., Martin, N. G., Medland, S. E. and Ordoñana, J. R. (2018). No evidence of association of oxytocin polymorphisms with breastfeeding in 2 independent samples. Genes, Brain and Behavior, 17 (7) e12464, e12464. doi: 10.1111/gbb.12464 |
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2018 Journal Article Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterationsMoyses-Oliveira, Mariana, Giannuzzi, Giuliana, Fish, Richard J., Rosenfeld, Jill A., Petit, Florence, Soares, Maria de Fatima, Kulikowski, Leslie Domenici, Di-Battista, Adriana, Zamariolli, Malu, Xia, Fan, Liehr, Thomas, Kosyakova, Nadezda, Carvalheira, Gianna, Parker, Michael, Seaby, Eleanor G., Ennis, Sarah, Gilbert, Rodney D., Hagelstrom, R. Tanner, Cremona, Maria L., Li, Wenhui L., Malhotra, Alka, Chandrasekhar, Anjana, Perry, Denise L., Taft, Ryan J., McCarrier, Julie, Basel, Donald G., Andrieux, Joris, Stumpp, Taiza, Antunes, Fernanda ... Reymond, Alexandre (2018). Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Human Mutation, 39 (2), 281-291. doi: 10.1002/humu.23373 |
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2018 Journal Article The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disordersChang, H., Hoshina, N., Zhang, C., Ma, Y., Cao, H., Wang, Y., Wu, D. D., Bergen, S. E., Landén, M., Hultman, C. M., Preisig, M., Kutalik, Z., Castelao, E., Grigoroiu-Serbanescu, M., Forstner, A. J., Strohmaier, J., Hecker, J., Schulze, T. G., Müller-Myhsok, B., Reif, A., Mitchell, P. B., Martin, N. G., Schofield, P. R., Cichon, S., Nöthen, M. M., Walter, H., Erk, S., Heinz, A., Amin, N. ... MooDS Bipolar Consortium (2018). The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders. Molecular Psychiatry, 23 (2), 400-412. doi: 10.1038/mp.2016.231 |
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2018 Journal Article Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hairLiu, Fan, Chen, Yan, Zhu, Gu, Hysi, Pirro G., Wu, Sijie, Adhikari, Kaustubh, Breslin, Krystal, Pośpiech, Ewelina, Hamer, Merel A., Peng, Fuduan, Muralidharan, Charanya, Acuna-Alonzo, Victor, Canizales-Quinteros, Samuel, Bedoya, Gabriel, Gallo, Carla, Poletti, Giovanni, Rothhammer, Francisco, Bortolini, Maria Catira, Gonzalez-Jose, Rolando, Zeng, Changqing, Xu, Shuhua, Jin, Li, Uitterlinden, André G., Arfan Ikram, M., van Duijn, Cornelia M., Nijsten, Tamar, Walsh, Susan, Branicki, Wojciech, Wang, Sijia ... Kayser, Manfred (2018). Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair. Human Molecular Genetics, 27 (3), 559-575. doi: 10.1093/hmg/ddx416 |