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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> genotype

Norman, 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.

The contribution of common population variants to hypomorphic oculocutaneous albinism phenotypes: a novel tri-allelic <i>TYR</i> genotype

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 putamen

Hibar, 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

Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamen

2018

Conference Publication

<i>In</i>-<i>silico</i> prediction of novel splice altering variants in the myocilin gene in primary open angle glaucoma

Cree, 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.

<i>In</i>-<i>silico</i> prediction of novel splice altering variants in the myocilin gene in primary open angle glaucoma

2018

Journal Article

Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity

Smit, 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

Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity

2018

Journal Article

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

Savage, 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

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

2018

Journal Article

Extended twin study of alcohol use in Virginia and Australia

Verhulst, 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

Extended twin study of alcohol use in Virginia and Australia

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 project

Bartels, 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

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

2018

Journal Article

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Wray, 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

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

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 heritability

Hysi, 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

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

2018

Journal Article

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

Warrington, 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

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

2018

Journal Article

Anticytokine autoantibodies in a patient with a heterozygous <i>NFKB2</i> mutation

Ramakrishnan, 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

Anticytokine autoantibodies in a patient with a heterozygous <i>NFKB2</i> mutation

2018

Journal Article

Nineteen and Up study (19Up): Understanding pathways to mental health disorders in young Australian twins

Couvy-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

Nineteen and Up study (19Up): Understanding pathways to mental health disorders in young Australian twins

2018

Journal Article

Publisher Correction: protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Turcot, 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

Publisher Correction: protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

2018

Journal Article

The Nature of Nurture: Using a Virtual-Parent Design to Test Parenting Effects on Children's Educational Attainment in Genotyped Families

Bates, 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

The Nature of Nurture: Using a Virtual-Parent Design to Test Parenting Effects on Children's Educational Attainment in Genotyped Families

2018

Journal Article

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

Mühleisen, 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

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

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 genetics

Beaumont, 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

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

2018

Journal Article

No evidence of association of oxytocin polymorphisms with breastfeeding in 2 independent samples

Colodro-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

No evidence of association of oxytocin polymorphisms with breastfeeding in 2 independent samples

2018

Journal Article

Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations

Moyses-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

Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations

2018

Journal Article

The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders

Chang, 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

The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders

2018

Journal Article

Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Liu, 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

Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair