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Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study
Cuellar-Partida, Gabriel; Williams, Katie M.; Yazar, Seyhan; Guggenheim, Jeremy A.; Hewitt, Alex W.; Williams, Cathy; Wang, Jie Jin; Kho, Pik-Fang; Saw, Seang Mei; Cheng, Ching-Yu; Wong, Tien Yin; Aung, Tin; Young, Terri L.; Tideman, J. Willem L.; Jonas, Jost B.; Mitchell, Paul; Wojciechowski, Robert; Stambolian, Dwight; Hysi, Pirro; Hammond, Christopher J.; Mackey, David A.; Lucas, Robyn M.; MacGregor, Stuart
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY - 1/12/2017
Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study.
Ong, Jue-Sheng; Hwang, Liang-Dar; Cuellar-Partida, Gabriel; Martin, Nicholas G; Chenevix-Trench, Georgia; Quinn, Michael C J; Cornelis, Marilyn C; Gharahkhani, Puya; Webb, Penelope M; MacGregor, Stuart; ,
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY - 1/11/2017
FIVE NEW RISK LOCI FOR PRIMARY OPEN ANGLE GLAUCOMA IDENTIFIED USING A NOVEL METHOD: EXTREME PHENOTYPE AND QUANTITATIVE TRAIT LOCUS (EPAQ) MAPPING
Craig, Jamie E.; Gharahkhani, Puya; Hewitt, Alex; Mackey, David; Souzeau, Emmanuelle; Landers, John; Graham, Stuart; Zhou, Tiger; Casson, Robert; Macgregor, Stuart
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY - 1/10/2017
Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging
Law, Matthew H.; Medland, Sarah E.; Zhu, Gu; Yazar, Seyhan; Vinuela, Ana; Wallace, Leanne; Shekar, Sri Niranjan; Duffy, David L.; Bataille, Veronique; Glass, Dan; Spector, Tim D.; Wood, Diane; Gordon, Scott D.; Barbour, Julie M.; Henders, Anjali K.; Hewitt, Alex W.; Montgomery, Grant W.; Sturm, Richard A.; Mackey, David A.; Green, Adele C.; Martin, Nicholas G.; Macgregor, Stuart
JOURNAL OF INVESTIGATIVE DERMATOLOGY - 1/09/2017
Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci
Glubb, Dylan M.; Johnatty, Sharon E.; Quinn, Michael C. J.; O'Mara, Tracy A.; Tyrer, Jonathan P.; Gao, Bo; Fasching, Peter A.; Beckmann, Matthias W.; Lambrechts, Diether; Vergote, Ignace; Edwards, Digna R. Velez; Beeghly-Fadiel, Alicia; Benitez, Javier; Garcia, Maria J.; Goodman, Marc T.; Thompson, Pamela J.; Doerk, Thilo; Duerst, Matthias; Modungo, Francesmary; Moysich, Kirsten; Heitz, Florian; du Bois, Andreas; Pfisterer, Jacobus; Hillemanns, Peter; Karlan, Beth Y.; Lester, Jenny; Goode, Ellen L.; Cunningham, Julie M.; Winham, Stacey J.; Larson, Melissa C.; McCauley, Bryan M.; Kjaer, Susanne Kruger; Jensen, Allan; Schildkraut, Joellen M.; Berchuck, Andrew; Cramer, Daniel W.; Terry, Kathryn L.; Salvesen, Helga B.; Bjorge, Line; Webb, Penny M.; Grant, Peter; Pejovic, Tanja; Moffitt, Melissa; Hogdall, Claus K.; Hogdall, Estrid; Paul, James; Glasspool, Rosalind; Bernardini, Marcus; Tone, Alicia; Huntsman, David; Woo, Michelle; deFazio, Anna; Kennedy, Catherine J.; Pharoah, Paul D. P.; Macgregor, Stuart; Chenevix-Trench, Georgia
ONCOTARGET - 1/09/2017
U.S. National Institutes of Health 2 (NIH) - CA1X01HG007491-01
A common intronic variant of PARP1 confers melanoma risk and mediates melanocyte growth via regulation of MITF
Choi, Jiyeon; Xu, Mai; Makowski, Matthew M.; Zhang, Tongwu; Law, Matthew H.; Kovacs, Michael A.; Granzhan, Anton; Kim, Wendy J.; Parikh, Hemang; Gartside, Michael; Trent, Jeffrey M.; Teulade-Fichou, Marie-Paule; Iles, Mark M.; Newton-Bishop, Julia A.; Bishop, D. Timothy; Macgregor, Stuart; Hayward, Nicholas K.; Vermeulen, Michiel; Brown, Kevin M.
NATURE GENETICS - 1/09/2017
Haplotype reference consortium panel: Practical implications of imputations with large reference panels
Iglesias, Adriana I.; van der Lee, Sven J.; Bonnemaijer, Pieter W. M.; Hoehn, Rene; Nag, Abhishek; Gharahkhani, Puya; Khawaja, Anthony P.; Broer, Linda; Foster, Paul J.; Hammond, Christopher J.; Hysi, Pirro G.; van Leeuwen, Elisabeth M.; Macgregor, Stuart; Mackey, David A.; Mazur, Johanna; Nickels, Stefan; Uitterlinden, Andre G.; Klaver, Caroline C. W.; Amin, Najaf; van Duijn, Cornelia M.
HUMAN MUTATION - 1/08/2017
Association of ANGPT1 with Primary Open Angle Glaucoma
Bailey, Jessica Cooke; Gharahkhani, Puya; Tompson, Stuart W.; Souma, Tomokazu; Siggs, Owen; Young, Terri L.; Tanna, Angelo P.; Pasquale, Louis R.; Quaggin, Susan E.; MacGregor, Stuart; Craig, Jamie E.; Haines, Jonathan L.; Wiggs, Janey L.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - 1/06/2017
NIH/NEI - R01 EY022305
Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.
Craig, Jamie E.; Gharahkhani, Puya; Hewitt, Alex W.; Burdon, Kathryn P.; Mackey, David A.; Graham, Stuart L.; Healey, Paul R.; Zhou, Tiger; Siggs, Owen; MacGregor, Stuart
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - 1/06/2017
NHMRC - APP1031362
Post-GWAS analysis approaches uncover dozens of novel genes associated with myopic refractive error
MacGregor, Stuart; Tedja, Milly S.; Wojciechowski, Robert; Hysi, Pirro G.; Verhoeven, Virginie J. M.; Hammond, Christopher J.; Iglesias, Adriana I.; Mackey, David A.; van Duijn, Cornelia; Klaver, Caroline
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - 1/06/2017
Meta-analyses of two large GWAS show a high genetic correlation between myopia age-at-onset and refractive error during adulthood and older age.
Wojciechowski, Robert; Hysi, Pirro G.; Tedja, Milly S.; Verhoeven, Virginie J. M.; Guggenheim, Jeremy A.; MacGregor, Stuart; Hammond, Christopher J.; Klaver, Caroline
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - 1/06/2017
NIH - K08EY022943
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism
Sapkota, Yadav; Steinthorsdottir, Valgerdur; Morris, Andrew P.; Fassbender, Amelie; Rahmioglu, Nilufer; De Vivo, Immaculata; Buring, Julie E.; Zhang, Futao; Edwards, Todd L.; Jones, Sarah; Dorien, O.; Peterse, Danielle; Rexrode, Kathryn M.; Ridker, Paul M.; Schork, Andrew J.; Macgregor, Stuart; Martin, Nicholas G.; Becker, Christian M.; Adachi, Sosuke; Yoshihara, Kosuke; Enomoto, Takayuki; Takahashi, Atsushi; Kamatani, Yoichiro; Matsuda, Koichi; Kubo, Michiaki; Thorleifsson, Gudmar; Geirsson, Reynir T.; Thorsteinsdottir, Unnur; Wallace, Leanne M.; Yang, Jian; Edwards, Digna R. Velez; Nyegaard, Mette; Low, Siew-Kee; Zondervan, Krina T.; Missmer, Stacey A.; D'Hooghe, Thomas; Montgomery, Grant W.; Chasman, Daniel I.; Stefansson, Kari; Tung, Joyce Y.; Nyholt, Dale R.
Nature Communications - 1/05/2017
National Health and Medical Research Council (NHMRC) of Australia - 241,944
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
Zhou, Tiger; Souzeau, Emmanuelle; Sharma, Shiwani; Landers, John; Mills, Richard; Goldberg, Ivan; Healey, Paul R.; Graham, Stuart; Hewitt, Alex W.; Mackey, David A.; Galanopoulos, Anna; Casson, Robert J.; Ruddle, Jonathan B.; Ellis, Jonathan; Leo, Paul; Brown, Matthew A.; Macgregor, Stuart; Lynn, David J.; Burdon, Kathryn P.; Craig, Jamie E.
PLOS ONE - 1/03/2017
National Health and Medical Research Council (NHMRC) - APP1023911
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma
Zhou, Tiger; Souzeau, Emmanuelle; Siggs, Owen M.; Landers, John; Mills, Richard; Goldberg, Ivan; Healey, Paul R.; Graham, Stuart; Hewitt, Alex W.; Mackey, David A.; Galanopoulos, Anna; Casson, Robert J.; Ruddle, Jonathan B.; Ellis, Jonathan; Leo, Paul; Brown, Matthew A.; Macgregor, Stuart; Sharma, Shiwani; Burdon, Kathryn P.; Craig, Jamie E.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - 1/03/2017
National Health and Medical Research Council (NHMRC) Centres of Research Excellence scheme - APP1023911
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics
Springelkamp, Henriet; Iglesias, Adriana I.; Mishra, Aniket; Hoehn, Rene; Wojciechowski, Robert; Khawaja, Anthony P.; Nag, Abhishek; Wang, Ya Xing; Wang, Jie Jin; Cuellar-Partida, Gabriel; Gibson, Jane; Bailey, Jessica N. Cooke; Vithana, Eranga N.; Gharahkhani, Puya; Boutin, Thibaud; Ramdas, Wishal D.; Zeller, Tanja; Luben, Robert N.; Yonova-Doing, Ekaterina; Viswanathan, Ananth C.; Yazar, Seyhan; Cree, Angela J.; Haines, Jonathan L.; Koh, Jia Yu; Souzeau, Emmanuelle; Wilson, James F.; Amin, Najaf; Mueller, Christian; Venturini, Cristina; Kearns, Lisa S.; Kang, Jae Hee; Tham, Yih Chung; Zhou, Tiger; van Leeuwen, Elisabeth M.; Nickels, Stefan; Sanfilippo, Paul; Liao, Jiemin; van der Linde, Herma; Zhao, Wanting; van Koolwijk, Leonieke M. E.; Zheng, Li; Rivadeneira, Fernando; Baskaran, Mani; van der Lee, Sven J.; Perera, Shamira; de Jong, Paulus T. V. M.; Oostra, Ben A.; Uitterlinden, Andre G.; Fan, Qiao; Hofman, Albert; Tai, E-Shyong; Vingerling, Johannes R.; Sim, Xueling; Wolfs, Roger C. W.; Teo, Yik Ying; Lemij, Hans G.; Khor, Chiea Chuen; Willemsen, Rob; Lackner, Karl J.; Aung, Tin; Jansonius, Nomdo M.; Montgomery, Grant; Wild, Philipp S.; Young, Terri L.; Burdon, Kathryn P.; Hysi, Pirro G.; Pasquale, Louis R.; Wong, Tien Yin; Klaver, Caroline C. W.; Hewitt, Alex W.; Jonas, Jost B.; Mitchell, Paul; Lotery, Andrew J.; Foster, Paul J.; Vitart, Veronique; Pfeiffer, Norbert; Craig, Jamie E.; Mackey, David A.; Hammond, Christopher J.; Wiggs, Janey L.; Cheng, Ching-Yu; van Duijn, Cornelia M.; Macgregor, Stuart
HUMAN MOLECULAR GENETICS - 1/01/2017
National Institutes of Health/National Eye Institute (NIH/NEI) - 1R01EY018246-01
When do myopia genes have their effect? Comparison of genetic risks between children and adults
Tideman, J. Willem L.; Fan, Qiao; Polling, Jan Roelof; Guo, Xiaobo; Yazar, Seyhan; Khawaja, Anthony; Hoehn, Rene; Lu, Yi; Jaddoe, Vincent W. V.; Yamashiro, Kenji; Yoshikawa, Munemitsu; Gerhold-Ay, Aslihan; Nickels, Stefan; Zeller, Tanja; He, Mingguang; Boutin, Thibaud; Bencic, Goran; Vitart, Veronique; Mackey, David A.; Foster, Paul J.; Macgregor, Stuart; Williams, Cathy; Saw, Seang Mei; Guggenheim, Jeremy A.; Klaver, Caroline C. W.
GENETIC EPIDEMIOLOGY - 1/12/2016
Medical Research Council - MC_PC_15018
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma
Zhou, Tiger; Souzeau, Emmanuelle; Sharma, Shiwani; Siggs, Owen M.; Goldberg, Ivan; Healey, Paul R.; Graham, Stuart; Hewitt, Alex W.; Mackey, David A.; Casson, Robert J.; Landers, John; Mills, Richard; Ellis, Jonathan; Leo, Paul; Brown, Matthew A.; Macgregor, Stuart; Burdon, Kathryn P.; Craig, Jamie E.
MOLECULAR GENETICS AND GENOMICS - 1/11/2016
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease
Khong, Jwu Jin; Burdon, Kathryn P.; Lu, Yi; Laurie, Kate; Leonardos, Lefta; Baird, Paul N.; Sahebjada, Srujana; Walsh, John P.; Gajdatsy, Adam; Ebeling, Peter R.; Hamblin, Peter Shane; Wong, Rosemary; Forehan, Simon P.; Fourlanos, Spiros; Roberts, Anthony P.; Doogue, Matthew; Selva, Dinesh; Montgomery, Grant W.; Macgregor, Stuart; Craig, Jamie E.
BMC GENOMICS - 1/11/2016