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by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
by Lu, Yi and Vitart, Veronique and Burdon, Kathryn P and Khor, Chiea Chuen and Bykhovskaya, Yelena and Mirshahi, Alireza and Hewitt, Alex W and Koehn, Demelza and Hysi, Pirro G and Ramdas, Wishal D and Zeller, Tanja and Vithana, Eranga N and Cornes, Belinda K and Tay, Wan-Ting and Tai, E. Shyong and Cheng, Ching-Yu and Liu, Jianjun and Foo, Jia-Nee and Saw, Seang Mei and Thorleifsson, Gudmar and Stefansson, Kari and Dimasi, David P and Mills, Richard A and Mountain, Jenny and Ang, Wei and Hoehn, René and Verhoeven, Virginie J. M and Grus, Franz and Wolfs, Roger and Castagne, Raphaële and Lackner, Karl J and Springelkamp, Henriët and Yang, Jian and Jonasson, Fridbert and Leung, Dexter Y. L and Chen, Li J and Tham, Clement C. Y and Rudan, Igor and Vatavuk, Zoran and Hayward, Caroline and Gibson, Jane and Cree, Angela J and MacLeod, Alex and Ennis, Sarah and Polasek, Ozren and Campbell, Harry and Wilson, James F and Viswanathan, Ananth C and Fleck, Brian and Li, Xiaohui and Siscovick, David and Taylor, Kent D and Rotter, Jerome I and Yazar, Seyhan and Ulmer, Megan and Li, Jun and Yaspan, Brian L and Ozel, Ayse B and Richards, Julia E and Moroi, Sayoko E and Haines, Jonathan L and Kang, Jae H and Pasquale, Louis R and Allingham, R Rand and Ashley-Koch, Allison and Mitchell, Paul and Wang, Jie Jin and Wright, Alan F and Pennell, Craig and Spector, Timothy D and Young, Terri L and Klaver, Caroline C.W and Martin, Nicholas G and Montgomery, Grant W and Anderson, Michael G and Aung, Tin and Willoughby, Colin E and Wiggs, Janey L and Pang, Chi P and Thorsteinsdottir, Unnur and Lotery, Andrew J and Hammond, Christopher J and Van Duijn, Cornelia M and Hauser, Michael A and Rabinowitz, Yaron S and Pfeiffer, Norbert and MacKey, David A and Craig, Jamie E and MacGregor, Stuart and Wong, Tien Y and NEIGHBOR Consortium
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 155 - 163
Journal Article
Nature communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 155 - 155
Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article.... 
Association analysis | Eye diseases | Data processing | Cornea | Genomes
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 2019, p. bjophthalmol-2018-313493
To compare the biomechanically corrected intraocular pressure (IOP) estimate (bIOP) provided by the Corvis-ST with Goldmann applanation tonometry (GAT-IOP) in... 
cornea | optic nerve | glaucoma
Journal Article
PloS one, ISSN 1932-6203, 2019, Volume 14, Issue 4, pp. e0215056 - e0215056
[This corrects the article DOI: 10.1371/journal.pone.0209409.]. 
Glaucoma | Technology application | Analysis | Spatial analysis | Automation
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 12345 - 7
To investigate a method for precision analysis to discriminate true corneal change from measurement imprecision in keratoconus (KC). Thirty patients with KC... 
PENTACAM HR | TOMOGRAPHY | REPEATABILITY | EYES | COLLAGEN CROSS-LINKING | MULTIDISCIPLINARY SCIENCES | PENETRATING KERATOPLASTY | PARAMETERS | Keratoconus | Cornea
Journal Article
Human Genetics, ISSN 0340-6717, 2/2015, Volume 134, Issue 2, pp. 217 - 230
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | MUTATION ANALYSIS | USH2A GENE | USHER-SYNDROME | TRANSPORTER GENE |