GenNet framework: interpretable deep learning for predicting phenotypes from genetic data

by Arno van Hilten, Steven A. Kushner, Manfred Kayser, M. Arfan Ikram, Hieab H. H. Adams, Caroline C. W. Klaver, Wiro J. Niessen, Gennady V. Roshchupkin
Published 2021-09-01

Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish

by Wim H. Quint, Kirke C. D. Tadema, Erik de Vrieze, Rachel M. Lukowicz, Sanne Broekman, Beerend H. J. Winkelman, Melanie Hoevenaars, H. Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel, Magda Meester-Smoor, Adam C. Miller, Rob Willemsen, Caroline C. W. Klaver, Adriana I. Iglesias
Published 2021-06-01

The ERCC6 gene and age-related macular degeneration.

by Dominique C Baas, Dominiek D Despriet, Theo G M F Gorgels, Julie Bergeron-Sawitzke, André G Uitterlinden, Albert Hofman, Cornelia M van Duijn, Joanna E Merriam, R Theodore Smith, Gaetano R Barile, Jacoline B ten Brink, Johannes R Vingerling, Caroline C W Klaver, Rando Allikmets, Michael Dean, Arthur A B Bergen
Published 2010-11-01

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

by Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty
Published 2021-01-01

A genome-wide association study of optic disc parameters.

by Wishal D Ramdas, Leonieke M E van Koolwijk, M Kamran Ikram, Nomdo M Jansonius, Paulus T V M de Jong, Arthur A B Bergen, Aaron Isaacs, Najaf Amin, Yurii S Aulchenko, Roger C W Wolfs, Albert Hofman, Fernando Rivadeneira, Ben A Oostra, Andre G Uitterlinden, Pirro Hysi, Christopher J Hammond, Hans G Lemij, Johannes R Vingerling, Caroline C W Klaver, Cornelia M van Duijn
Published 2010-06-01

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.

by Maheswara R Duvvari, Codrut C Paun, Gabriëlle H S Buitendijk, Nicole T M Saksens, Elena B Volokhina, Tina Ristau, Frederieke E Schoenmaker-Koller, Johannes P H van de Ven, Joannes M M Groenewoud, Lambertus P W J van den Heuvel, Albert Hofman, Sascha Fauser, André G Uitterlinden, Caroline C W Klaver, Carel B Hoyng, Eiko K de Jong, Anneke I den Hollander
Published 2014-01-01

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

by Yee-Ling Wong, Pirro Hysi, Gemmy Cheung, Milly Tedja, Quan V Hoang, Stuart W J Tompson, Kristina N Whisenhunt, Virginie Verhoeven, Wanting Zhao, Moritz Hess, Chee-Wai Wong, Annette Kifley, Yoshikatsu Hosoda, Annechien E G Haarman, Susanne Hopf, Panagiotis Laspas, Sonoko Sensaki, Xueling Sim, Masahiro Miyake, Akitaka Tsujikawa, Ecosse Lamoureux, Kyoko Ohno-Matsui, Stefan Nickels, Paul Mitchell, Tien-Yin Wong, Jie Jin Wang, Christopher J Hammond, Veluchamy A Barathi, Ching-Yu Cheng, Kenji Yamashiro, Terri L Young, Caroline C W Klaver, Seang-Mei Saw, Consortium of Refractive Error, Myopia (CREAM)
Published 2019-01-01

Correction: Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

by Yee-Ling Wong, Pirro Hysi, Gemmy Cheung, Milly Tedja, Quan V Hoang, Stuart W J Tompson, Kristina N Whisenhunt, Virginie J M Verhoeven, Wanting Zhao, Moritz Hess, Chee-Wai Wong, Annette Kifley, Yoshikatsu Hosoda, Annechien E G Haarman, Susanne Hopf, Panagiotis Laspas, Sonoko Sensaki, Xueling Sim, Masahiro Miyake, Akitaka Tsujikawa, Ecosse Lamoureux, Kyoko Ohno-Matsui, Stefan Nickels, Paul Mitchell, Tien-Yin Wong, Jie Jin Wang, Christopher J Hammond, Veluchamy A Barathi, Ching-Yu Cheng, Kenji Yamashiro, Terri L Young, Caroline C W Klaver, Seang-Mei Saw, Consortium of Refractive Error, Myopia (CREAM)
Published 2019-01-01

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

by Hannah Currant, Pirro Hysi, Tomas W Fitzgerald, Puya Gharahkhani, Pieter W M Bonnemaijer, Anne Senabouth, Alex W Hewitt, UK Biobank Eye and Vision Consortium, International Glaucoma Genetics Consortium, Denize Atan, Tin Aung, Jason Charng, Hélène Choquet, Jamie Craig, Peng T Khaw, Caroline C W Klaver, Michiaki Kubo, Jue-Sheng Ong, Louis R Pasquale, Charles A Reisman, Maciej Daniszewski, Joseph E Powell, Alice Pébay, Mark J Simcoe, Alberta A H J Thiadens, Cornelia M van Duijn, Seyhan Yazar, Eric Jorgenson, Stuart MacGregor, Chris J Hammond, David A Mackey, Janey L Wiggs, Paul J Foster, Praveen J Patel, Ewan Birney, Anthony P Khawaja
Published 2021-05-01

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

by Elizabeth G Holliday, Albert V Smith, Belinda K Cornes, Gabriëlle H S Buitendijk, Richard A Jensen, Xueling Sim, Thor Aspelund, Tin Aung, Paul N Baird, Eric Boerwinkle, Ching Yu Cheng, Cornelia M van Duijn, Gudny Eiriksdottir, Vilmundur Gudnason, Tamara Harris, Alex W Hewitt, Michael Inouye, Fridbert Jonasson, Barbara E K Klein, Lenore Launer, Xiaohui Li, Gerald Liew, Thomas Lumley, Patrick McElduff, Barbara McKnight, Paul Mitchell, Bruce M Psaty, Elena Rochtchina, Jerome I Rotter, Rodney J Scott, Wanting Tay, Kent Taylor, Yik Ying Teo, André G Uitterlinden, Ananth Viswanathan, Sophia Xie, Wellcome Trust Case Control Consortium 2, Johannes R Vingerling, Caroline C W Klaver, E Shyong Tai, David Siscovick, Ronald Klein, Mary Frances Cotch, Tien Y Wong, John Attia, Jie Jin Wang
Published 2013-01-01

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

by Claire L Simpson, Robert Wojciechowski, Konrad Oexle, Federico Murgia, Laura Portas, Xiaohui Li, Virginie J M Verhoeven, Veronique Vitart, Maria Schache, S Mohsen Hosseini, Pirro G Hysi, Leslie J Raffel, Mary Frances Cotch, Emily Chew, Barbara E K Klein, Ronald Klein, Tien Yin Wong, Cornelia M van Duijn, Paul Mitchell, Seang Mei Saw, Maurizio Fossarello, Jie Jin Wang, DCCT/EDIC Research Group, Ozren Polašek, Harry Campbell, Igor Rudan, Ben A Oostra, André G Uitterlinden, Albert Hofman, Fernando Rivadeneira, Najaf Amin, Lennart C Karssen, Johannes R Vingerling, Angela Döring, Thomas Bettecken, Goran Bencic, Christian Gieger, H-Erich Wichmann, James F Wilson, Cristina Venturini, Brian Fleck, Phillippa M Cumberland, Jugnoo S Rahi, Chris J Hammond, Caroline Hayward, Alan F Wright, Andrew D Paterson, Paul N Baird, Caroline C W Klaver, Jerome I Rotter, Mario Pirastu, Thomas Meitinger, Joan E Bailey-Wilson, Dwight Stambolian
Published 2014-01-01

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

by Ekaterina Yonova-Doing, Wanting Zhao, Robert P. Igo, Chaolong Wang, Periasamy Sundaresan, Kristine E. Lee, Gyungah R. Jun, Alexessander Couto Alves, Xiaoran Chai, Anita S. Y. Chan, Mei Chin Lee, Allan Fong, Ava G. Tan, Chiea Chuen Khor, Emily Y. Chew, Pirro G. Hysi, Qiao Fan, Jacqueline Chua, Jaeyoon Chung, Jiemin Liao, Johanna M. Colijn, Kathryn P. Burdon, Lars G. Fritsche, Maria K. Swift, Maryam H. Hilmy, Miao Ling Chee, Milly Tedja, Pieter W. M. Bonnemaijer, Preeti Gupta, Queenie S. Tan, Zheng Li, Eranga N. Vithana, Ravilla D. Ravindran, Soon-Phaik Chee, Yuan Shi, Wenting Liu, Xinyi Su, Xueling Sim, Yang Shen, Ya Xing Wang, Hengtong Li, Yih-Chung Tham, Yik Ying Teo, Tin Aung, Kerrin S. Small, Paul Mitchell, Jost B. Jonas, Tien Yin Wong, Astrid E. Fletcher, Caroline C. W. Klaver, Barbara E. K. Klein, Jie Jin Wang, Sudha K. Iyengar, Christopher J. Hammond, Ching-Yu Cheng
Published 2020-12-01

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

by Leonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, Nomdo M Jansonius, Francesca Pasutto, Pirro G Hysi, Stuart Macgregor, Sarah F Janssen, Alex W Hewitt, Ananth C Viswanathan, Jacoline B ten Brink, S Mohsen Hosseini, Najaf Amin, Dominiek D G Despriet, Jacqueline J M Willemse-Assink, Rogier Kramer, Fernando Rivadeneira, Maksim Struchalin, Yurii S Aulchenko, Nicole Weisschuh, Matthias Zenkel, Christian Y Mardin, Eugen Gramer, Ulrich Welge-Lüssen, Grant W Montgomery, Francis Carbonaro, Terri L Young, DCCT/EDIC Research Group, Céline Bellenguez, Peter McGuffin, Paul J Foster, Fotis Topouzis, Paul Mitchell, Jie Jin Wang, Tien Y Wong, Monika A Czudowska, Albert Hofman, Andre G Uitterlinden, Roger C W Wolfs, Paulus T V M de Jong, Ben A Oostra, Andrew D Paterson, Wellcome Trust Case Control Consortium 2, David A Mackey, Arthur A B Bergen, André Reis, Christopher J Hammond, Johannes R Vingerling, Hans G Lemij, Caroline C W Klaver, Cornelia M van Duijn
Published 2012-01-01

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

by Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study - GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, Wellcome Trust Case Control Consortium 2 (WTCCC2), NEIGHBORHOOD consortium, André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor
Published 2019-01-01

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

by Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor
Published 2018-05-01

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

by Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Published 2021-03-01

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

by Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs
Published 2021-02-01

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

by Qiao Fan, Virginie J. M. Verhoeven, Robert Wojciechowski, Veluchamy A. Barathi, Pirro G. Hysi, Jeremy A. Guggenheim, René Höhn, Veronique Vitart, Anthony P. Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimäki, Yi Lu, Toomas Haller, Jing Xie, Cécile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini, Masahiro Miyake, Alex W. Hewitt, Xiaobo Guo, Johanna Mazur, Jenifer E. Huffman, Katie M. Williams, Ozren Polasek, Harry Campbell, Igor Rudan, Zoran Vatavuk, James F. Wilson, Peter K. Joshi, George McMahon, Beate St Pourcain, David M. Evans, Claire L. Simpson, Tae-Hwi Schwantes-An, Robert P. Igo, Alireza Mirshahi, Audrey Cougnard-Gregoire, Céline Bellenguez, Maria Blettner, Olli Raitakari, Mika Kähönen, Ilkka Seppälä, Tanja Zeller, Thomas Meitinger, Janina S. Ried, Christian Gieger, Laura Portas, Elisabeth M. van Leeuwen, Najaf Amin, André G. Uitterlinden, Fernando Rivadeneira, Albert Hofman, Johannes R. Vingerling, Ya Xing Wang, Xu Wang, Eileen Tai-Hui Boh, M. Kamran Ikram, Charumathi Sabanayagam, Preeti Gupta, Vincent Tan, Lei Zhou, Candice E. H. Ho, Wan’e Lim, Roger W. Beuerman, Rosalynn Siantar, E-Shyong Tai, Eranga Vithana, Evelin Mihailov, Chiea-Chuen Khor, Caroline Hayward, Robert N. Luben, Paul J. Foster, Barbara E. K. Klein, Ronald Klein, Hoi-Suen Wong, Paul Mitchell, Andres Metspalu, Tin Aung, Terri L. Young, Mingguang He, Olavi Pärssinen, Cornelia M. van Duijn, Jie Jin Wang, Cathy Williams, Jost B. Jonas, Yik-Ying Teo, David A. Mackey, Konrad Oexle, Nagahisa Yoshimura, Andrew D. Paterson, Norbert Pfeiffer, Tien-Yin Wong, Paul N. Baird, Dwight Stambolian, Joan E. Bailey Wilson, Ching-Yu Cheng, Christopher J. Hammond, Caroline C. W. Klaver, Seang-Mei Saw, Consortium for Refractive Error and Myopia (CREAM)
Published 2016-04-01