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  • Alex Hewitt
2017

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma leads to early identification of at-risk individuals

Souzeau, E., Tram, K. H., Witney, M., Ruddle, J. B., Graham, S. L., Healey, P. R., Goldberg, I., Mackey, D., Hewitt, A. W., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In : Ophthalmology. 124, 3, p. 303-309 7 p.

Research output: Contribution to journalArticle

Open Access
File
10 Citations (Scopus)
221 Downloads (Pure)
2018

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Melanoma GWAS Consortium, 1 Dec 2018, In : Nature Communications. 9, 1, 4774.

Research output: Contribution to journalArticle

Open Access
22 Citations (Scopus)
2020
2018

Retinal genes are differentially expressed in areas of primary versus secondary degeneration following partial optic nerve injury

Chiha, W., LeVaillant, C. J., Bartlett, C. A., Hewitt, A. W., Melton, P. E., Fitzgerald, M. & Harvey, A. R., 1 Feb 2018, In : PLoS One. 13, 2, e0192348.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)
2016

Giant cell arteritis: ophthalmic manifestations of a systemic disease

De Smit, E., O’Sullivan, E., Mackey, D. & Hewitt, A. W., 1 Dec 2016, In : Graefe's Archive for Clinical and Experimental Ophthalmology. 254, 12, p. 2291-2306 16 p.

Research output: Contribution to journalReview article

Open Access
File
18 Citations (Scopus)
379 Downloads (Pure)
2017

Drusen in patient-derived hiPSC-RPE models of macular dystrophies

Galloway, C. A., Dalvi, S., Hung, S. S. C., MacDonald, L. A., Latchney, L. R., Wong, R. C. B., Guymer, R. H., Mackey, D. A., Williams, D. S., Chung, M. M., Gamm, D. M., Pébay, A., Hewitt, A. W. & Singh, R., 26 Sep 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 39, p. E8214-E8223

Research output: Contribution to journalArticle

Open Access
25 Citations (Scopus)
2020

Association of Genetic Variation with Keratoconus

McComish, B. J., Sahebjada, S., Bykhovskaya, Y., Willoughby, C. E., Richardson, A. J., Tenen, A., Charlesworth, J. C., Macgregor, S., Mitchell, P., Lucas, S. E. M., Mills, R. A., Mackey, D. A., Li, X., Wang, J. J., Jensen, R. A., Rotter, J. I., Taylor, K. D., Hewitt, A. W., Rabinowitz, Y. S., Baird, P. N. & 2 others, Craig, J. E. & Burdon, K. P., Feb 2020, In : JAMA Ophthalmology. 138, 2, p. 174-181 8 p.

Research output: Contribution to journalArticle

Open Access
2019

Prevalence of FOXC1 Variants in Individuals with a Suspected Diagnosis of Primary Congenital Glaucoma

Siggs, O. M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J. E. H., Taranath, D., Pater, J., Rait, J. L., Narita, A., Mauri, L., Del Longo, A., Reis, A., Chappell, A., Kearns, L. S., Staffieri, S. E., Elder, J. E., Ruddle, J. B., Hewitt, A. W., Burdon, K. P., Mackey, D. A. & 1 others, Craig, J. E., 1 Apr 2019, In : JAMA Ophthalmology. 137, 4, p. 348-355 8 p.

Research output: Contribution to journalArticle

Open Access
5 Citations (Scopus)

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

Han, X., Souzeau, E., Ong, J-S., An, J., Siggs, O. M., Bunion, K. P., Best, S., Goldberg, I., Healey, P. R., Graham, S. L., Ruddle, J. B., Mills, R. A., Landers, J., Galanopoulos, A., White, A. J. R., Casson, R., Mackey, D. A., Hewitt, A. W., Gharahkhani, P., Craig, J. E. & 1 others, MacGregor, S., Jan 2019, In : JAMA Ophthalmology. 137, 1, p. 28-35 8 p.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)
2017

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

International AMD Genomics Consortium (IAMDGC), 27 Mar 2017, In : Genome Medicine. 9, 1, 29.

Research output: Contribution to journalArticle

Open Access
File
27 Citations (Scopus)
190 Downloads (Pure)
2019

A Glint or a Squint Should Make You Think! Improving Parent Knowledge of the Early Signs of Retinoblastoma: A Double-Blind Randomised Controlled Trial

Staffieri, S., Rees, G., Sanfilippo, P., Cole, S., Mackey, D. & Hewitt, A., Dec 2019, In : PEDIATRIC BLOOD & CANCER. 66, p. S387-S388 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2017

The Ark: a customizable web-based data management tool for health and medical research

Bickerstaffe, A., Ranaweera, T., Endersby, T., Ellis, C., Maddumarachchi, S., Gooden, G. E., White, P., Moses, E. K., Hewitt, A. W. & Hopper, J. L., 15 Feb 2017, In : Bioinformatics. 33, 4, p. 624-626 3 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2019

Molecular aspects of eye development and regeneration in the Australian redclaw crayfish, Cherax quadricarinatus

Ventura, T., Stewart, M. J., Chandler, J. C., Rotgans, B., Elizur, A. & Hewitt, A. W., 1 Jan 2019, In : Aquaculture and Fisheries. 4, 1, p. 27-36 10 p.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)
2020

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Consortium for Refractive Error and Myopia (CREAM) & UK Biobank Eye and Vision Consortium, 1 Dec 2020, In : Communications Biology. 3, 1, 133.

Research output: Contribution to journalArticle

Open Access
2019

Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

Int Age-Related Macular Degenerati, Sep 2019, In : Investigative ophthalmology & visual science. 60, 12, p. 4041-4051 11 p.

Research output: Contribution to journalArticle

Open Access

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (vol 9, 1864, 2018)

Blue Mountains Eye Study-GWAS Grp, NEIGHBORHOOD Consortium & Wellcome Trust Case Control, 8 Jan 2019, In : Nature Communications. 10, 3 p., 155.

Research output: Contribution to journalArticle

Open Access
2018

Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect

Strabismus Genetics Research Consortium, 1 Aug 2018, In : Investigative Ophthalmology and Visual Science. 59, 10, p. 4054-4064 11 p.

Research output: Contribution to journalArticle

Open Access
3 Citations (Scopus)
2019

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

Melanoma GWAS Consortium, 14 Jan 2019, In : Nature Communications. 10, 3 p., 299.

Research output: Contribution to journalComment/debate

Open Access

Whole exome sequencing and linkage analysis of extended pedigrees to identify glaucoma susceptibility genes

Graham, P., Peralta, J., Blackburn, N., Blangero, J., Wirtz, M., Hewitt, A., Mackey, D., Burdon, K. & Charlesworth, J., Oct 2019, In : European Journal of Human Genetics. 27, p. 1238-1239 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2018

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Craig, J. E., Hewitt, A. W., Mackey, D., Graham, S. L., Healey, P. R., White, A. J. R., Landers, J., Casson, R., Souzeau, E., Burdon, K. P., Gharahkhani, P. & MacGregor, S., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p., 1177.

Research output: Contribution to journalAbstract/Meeting Abstract

2016

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Souzeau, E., Burdon, KP., Mackey, D. A., Hewitt, A., Savarirayan, R., Otlowski, M. & Craig, JE., 2016, In : Translational Vision Science and Technology. 5, 1, 11 p., 3.

Research output: Contribution to journalArticle

Open Access
6 Citations (Scopus)
2017

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

Springelkamp, H., Iglesias, A. I., Mishra, A., Höhn, R., Wojciechowski, R., Khawaja, A. P., Nag, A., Wang, Y. X., Wang, J. J., Cuellar-Partida, G., Gibson, J., Bailey, J. N. C., Vithana, E. N., Gharahkhani, P., Boutin, T., Ramdas, W. D., Zeller, T., Luben, R. N., Yonova-Doing, E., Viswanathan, A. C. & 63 others, Yazar, S., Cree, A. J., Haines, J. L., Koh, J. Y., Souzeau, E., Wilson, J. F., Amin, N., Müller, C., Venturini, C., Kearns, L. S., Kang, J. H., Tham, Y. C., Zhou, T., Van Leeuwen, E. M., Nickels, S., Sanfilippo, P., Liao, J., van der Linde, H., Zhao, W., van Koolwijk, L. M. E., Zheng, L., Rivadeneira, F., Baskaran, M., Van Der Lee, S. J., Perera, S., de Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Fan, Q., Hofman, A., Tai, E-S., Vingerling, J. R., Sim, X., Wolfs, R. C. W., Teo, Y. Y., Lemij, H. G., Khor, C. C., Willemsen, R., Lackner, K. J., Aung, T., Jansonius, N. M., Montgomery, G. W., Wild, P. S., Young, T. L., Burdon, K. P., Hysi, P. G., Pasquale, L. R., Wong, T. Y., Klaver, C. C. W., Hewitt, A. W., Jonas, J. B., Mitchell, P., Lotery, A. J., Foster, P. J., Vitart, V., Pfeiffer, N., Craig, J. E., Mackey, D. A., Hammond, C. J., Wiggs, J. L., Cheng, C. Y., van Duijn, C. M. & MacGregor, S., 15 Jan 2017, In : Human Molecular Genetics. 26, 2, p. 438-453 16 p.

Research output: Contribution to journalArticle

Open Access
File
52 Citations (Scopus)
222 Downloads (Pure)
2019

Seeing the impact of the Glaucoma Inheritance Study in Tasmania after 25 years

Mackey, D. A., Craig, J. E. & Hewitt, A. W., Jul 2019, In : Clinical and Experimental Ophthalmology. 47, 5, p. 677-679 3 p.

Research output: Contribution to journalLetter

Open Access
File
3 Downloads (Pure)
2016

A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions

Oliver, V. F., Van Bysterveldt, K. A., Cadzow, M., Steger, B., Romano, V., Markie, D., Hewitt, A., Mackey, D., Willoughby, C. E., Sherwin, T., Crosier, P. S., Mcghee, C. N. & Vincent, A. L., Apr 2016, In : Ophthalmology. 123, 4, p. 709-722 14 p.

Research output: Contribution to journalArticle

Open Access
16 Citations (Scopus)
4 Citations (Scopus)
2018
3 Citations (Scopus)
2016

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

Ng, S. K., Burdon, K. P., Fitzgerald, J. T., Zhou, T., Fogarty, R., Souzeau, E., Landers, J., Mills, R. A., Casson, R. J., Ridge, B., Graham, S. L., Hewitt, A. W., Mackey, D. A., Healey, P. R., Wang, J. J., Mitchell, P., MacGregor, S. & Craig, J. E., Jun 2016, In : Investigative ophthalmology & visual science. 57, 7, p. 3416-3421 6 p.

Research output: Contribution to journalArticle

Open Access
12 Citations (Scopus)
2018

Single-cell profiling identifies key pathways expressed by iPSCs cultured in different commercial media

Daniszewski, M., Quan Nguyen, Chy, H. S., Singh, V., Crombie, D. E., Kulkarni, T., Liang, H. H., Sivakumaran, P., Lidgerwood, G. E., Hernandez, D., Conquest, A., Rooney, L. A., Chevalier, S., Andersen, S. B., Senabouth, A., Vickers, J. C., Mackey, D. A., Craig, J. E., Laslett, A. L., Hewitt, A. W. & 2 others, Powell, J. E. & Pebay, A., 28 Sep 2018, In : Iscience. 7, p. 30-39

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)
2017

Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate

Matovinovic, E., Kho, P. F., Lea, R. A., Benton, M. C., Eccles, D. A., Haupt, L. M., Hewitt, A. W., Sherwin, J. C., Mackey, D. A. & Griffiths, L. R., 28 Sep 2017, In : Molecular Vision. 23, p. 660-665 6 p.

Research output: Contribution to journalArticle

Open Access
2016

Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells

Hung, S. S. C., Van Bergen, N. J., Jackson, S., Liang, H., Mackey, D., Hernández, D., Lim, S. Y., Hewitt, A. W., Trounce, I., Pébay, A. & Wong, R. C. B., May 2016, In : Aging. 8, 5, p. 945-957

Research output: Contribution to journalArticle

Open Access
19 Citations (Scopus)

Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos

Gao, X., Nannini, D. R., Corrao, K., Torres, M., Chen, Y. D. I., Fan, B. J., Wiggs, J. L., Taylor, K. D., Gauderman, W. J., Rotter, J. I., Varma, R., Aung, T., Burdon, K. P., Cheng, C. Y., Craig, J. E., Cree, A. J., Gharahkhani, P., Hammond, C. J., Hewitt, A. W., Höhn, R. & 24 others, Hysi, P. G., Gonzalez, A. I. I., Jonas, J. B., Khawaja, A., Khor, C. C., Klaver, C. C. W., Pasutto, F., MacGregor, S., Mackey, D., Mitchell, P., Mishra, A., Pang, C., Pasquale, L. R., Springelkamp, H., Thorleifsson, G., Thorsteinsdottir, U., van Duijn, C. M., Viswanathan, A., Vitart, V., Wojciechowski, R., Wong, T. Y., Young, T. L., Zeller, T. & International Glaucoma Genetics Consortium, 15 Nov 2016, In : Human Molecular Genetics. 25, 22, p. 5035-5045 11 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2019
1 Citation (Scopus)
2018

A POLYGENIC RISK SCORE THAT PREDICTS FAMILIAL GENETIC RISK IN GLAUCOMA

Hassall, M. M., Qassim, A., Han, X., Souzeau, E., Goldberg, I., Healey, P. R., Graham, S. L., Ruddle, J., Casson, R. J., Mackey, D. A., Hewitt, A., MacGregor, S. & Craig, J. E., Nov 2018, In : Clinical and Experimental Ophthalmology. 46, p. 64-65 2 p., S2504.

Research output: Contribution to journalAbstract/Meeting Abstract

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Gharahkhani, P., Burdon, K. P., Cooke Bailey, J. N., Hewitt, A. W., Law, M. H., Pasquale, L. R., Kang, J. H., Haines, J. L., Souzeau, E., Zhou, T., Siggs, O. M., Landers, J., Awadalla, M., Sharma, S., Mills, R. A., Ridge, B., Lynn, D., Casson, R., Graham, S. L., Goldberg, I. & 45 others, White, A., Healey, P. R., Grigg, J., Lawlor, M., Mitchell, P., Ruddle, J., Coote, M., Walland, M., Best, S., Vincent, A., Gale, J., Radfordsmith, G., Whiteman, D. C., Montgomery, G. W., Martin, N. G., MacKey, D. A., Wiggs, J. L., MacGregor, S., Craig, J. E., Allingham, R. R., Brilliant, M., Budenz, D. L., Fingert, J. H., Gaasterland, D., Gaasterland, T., Hark, L., Hauser, M., Igo, R. P., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S., Pericak-Vance, M., Realini, A., Rhee, D., Richards, J. E., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G. & Zack, D. J., 1 Dec 2018, In : Scientific Reports. 8, 1, 3124.

Research output: Contribution to journalArticle

Open Access
8 Citations (Scopus)

The relationship between female reproductive factors and optic disc parameters in young female adults

Lee, S., Yazar, S., Pasquale, L. R., Sanfilippo, P., Hewitt, A. W., Hickey, M., Skinner, R. & Mackey, D., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2019

High-throughput CRISPR-based morphological profiling of IOP-associated genes in primary trabecular meshwork cells

Lu, P., Hung, S., Greatbatch, C., Liang, H., Liu, R., Mackey, D., Cook, A., MacGregor, S., Craig, J. & Hewitt, A., Nov 2019, In : Clinical and Experimental Ophthalmology. 47, p. 121-122 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2020

Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism

Charng, J., Simcoe, M., Sanfilippo, P. G., Allingham, R. R., Hewitt, A. W., Hammond, C. J., Mackey, D. A. & Yazar, S., 1 Dec 2020, In : Scientific Reports. 10, 1, 12485.

Research output: Contribution to journalArticle

Open Access
2017

DNA methylation landscape of ocular tissue relative to matched peripheral blood

Hewitt, A. W., Januar, V., Sexton-Oates, A., Joo, J. E., Franchina, M., Wang, J. J., Liang, H., Craig, J. E. & Saffery, R., 13 Apr 2017, In : Scientific Reports. 7, 46330.

Research output: Contribution to journalArticle

Open Access
File
7 Citations (Scopus)
194 Downloads (Pure)
2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Bailey, J. N. C., Loomis, S. J., Kang, J. H., Allingham, R. R., Gharahkhani, P., Khor, C. C., Burdon, K. P., Aschard, H., Chasman, D. I., Igo, R. P., Hysi, P. G., Glastonbury, C. A., Ashley-Koch, A., Brilliant, M., Brown, A. A., Budenz, D. L., Buil, A., Cheng, C. Y., Choi, H., Christen, W. G. & 58 others, Curhan, G., De Vivo, I., Fingert, J. H., Foster, P. J., Fuchs, C., Gaasterland, D., Gaasterland, T., Hewitt, A. W., Hu, F., Hunter, D. J., Khawaja, A. P., Lee, R. K., Li, Z., Lichter, P. R., Mackey, D., Mcguffin, P., Mitchell, P., Moroi, S. E., Perera, S. A., Pepper, K. W., Qi, Q., Realini, T., Richards, J. E., Ridker, P. M., Rimm, E., Ritch, R., Ritchie, M., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Song, Y. E., Tamimi, R. M., Topouzis, F., Viswanathan, A. C., Verma, S. S., Vollrath, D., Wang, J. J., Weisschuh, N., Wissinger, B., Wollstein, G., Wong, T. Y., Yaspan, B. L., Zack, D. J., Zhang, K., Weinreb, R. N., Pericak-Vance, M. A., Small, K., Hammond, C. J., Aung, T., Liu, Y., Vithana, E. N., Macgregor, S., Craig, J. E., Kraft, P., Howell, G., Hauser, M. A. & Pasquale, L. R., Feb 2016, In : Nature Genetics. 48, 2, p. 189-194 7 p.

Research output: Contribution to journalArticle

Open Access
File
105 Citations (Scopus)
264 Downloads (Pure)
2019

The relationship between optic disc parameters and female reproductive factors in young women

Lee, S. S. Y., Yazar, S., Pasquale, L. R., Sanfilippo, P. G., Hewitt, A. W., Hickey, M., Skinner, R. & Mackey, D. A., May 2019, In : Asia-Pacific Journal of Ophthalmology. 8, 3, p. 224-228 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2020

Choroidal Thickness in Young Adults and its Association with Visual Acuity

Lee, S. S. Y., Lingham, G., Alonso-Caneiro, D., Chen, F. K., Yazar, S., Hewitt, A. W. & Mackey, D. A., Jun 2020, In : American Journal of Ophthalmology. 214, p. 40-51 12 p.

Research output: Contribution to journalArticle

2018

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Turcot, V., Lu, Y., Highland, H. M., Schurmann, C., Justice, A. E., Fine, R. S., Bradfield, J. P., Esko, T., Giri, A., Graff, M., Guo, X., Hendricks, A. E., Karaderi, T., Lempradl, A., Locke, A. E., Mahajan, A., Marouli, E., Sivapalaratnam, S., Young, K. L., Alfred, T. & 230 others, Feitosa, M. F., Masca, N. G. D., Manning, A. K., Medina-Gomez, C., Mudgal, P., Ng, M. C. Y., Reiner, A. P., Vedantam, S., Willems, S. M., Winkler, T. W., Abecasis, G., Aben, K. K., Alam, D. S., Alharthi, S. E., Allison, M., Amouyel, P., Asselbergs, F. W., Auer, P. L., Balkau, B., Bang, L. E., Barroso, I., Bastarache, L., Benn, M., Bergmann, S., Bielak, L. F., Blüher, M., Boehnke, M., Boeing, H., Boerwinkle, E., Böger, C. A., Bork-Jensen, J., Bots, M. L., Bottinger, E. P., Bowden, D. W., Brandslund, I., Breen, G., Brilliant, M. H., Broer, L., Brumat, M., Burt, A. A., Butterworth, A. S., Campbell, P. T., Cappellani, S., Carey, D. J., Catamo, E., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Cocca, M., Collins, F. S., Cook, J. P., Corley, J., Corominas Galbany, J., Cox, A. J., Crosslin, D. S., Cuellar-Partida, G., D'Eustacchio, A., Danesh, J., Davies, G., Bakker, P. I. W., Groot, M. C. H., Mutsert, R., Deary, I. J., Dedoussis, G., Demerath, E. W., Heijer, M., Hollander, A. I., Ruijter, H. M., Dennis, J. G., Denny, J. C., Angelantonio, E., Drenos, F., Du, M., Dubé, M. P., Dunning, A. M., Easton, D. F., Edwards, T. L., Ellinghaus, D., Ellinor, P. T., Elliott, P., Evangelou, E., Farmaki, A. E., Farooqi, I. S., Faul, J. D., Fauser, S., Feng, S., Ferrannini, E., Ferrieres, J., Florez, J. C., Ford, I., Fornage, M., Franco, O. H., Franke, A., Franks, P. W., Friedrich, N., Frikke-Schmidt, R., Galesloot, T. E., Gan, W., Gandin, I., Gasparini, P., Gibson, J., Giedraitis, V., Gjesing, A. P., Gordon-Larsen, P., Gorski, M., Grabe, H. J., Grant, S. F. A., Grarup, N., Griffiths, H. L., Grove, M. L., Gudnason, V., Gustafsson, S., Haessler, J., Hakonarson, H., Hammerschlag, A. R., Hansen, T., Harris, K. M., Harris, T. B., Hattersley, A. T., Have, C. T., Hayward, C., He, L., Heard-Costa, N. L., Heath, A. C., Heid, I. M., Helgeland, Ø., Hernesniemi, J., Hewitt, A. W., Holmen, O. L., Hovingh, G. K., Howson, J. M. M., Hu, Y., Huang, P. L., Huffman, J. E., Ikram, M. A., Ingelsson, E., Jackson, A. U., Jansson, J. H., Jarvik, G. P., Jensen, G. B., Jia, Y., Johansson, S., Jørgensen, M. E., Jørgensen, T., Jukema, J. W., Kahali, B., Kahn, R. S., Kähönen, M., Kamstrup, P. R., Kanoni, S., Kaprio, J., Karaleftheri, M., Kardia, S. L. R., Karpe, F., Kathiresan, S., Kee, F., Kiemeney, L. A., Kim, E., Kitajima, H., Komulainen, P., Kooner, J. S., Kooperberg, C., Korhonen, T., Kovacs, P., Kuivaniemi, H., Kutalik, Z., Kuulasmaa, K., Kuusisto, J., Laakso, M., Lakka, T. A., Lamparter, D., Lange, E. M., Lange, L. A., Langenberg, C., Larson, E. B., Lee, N. R., Lehtimäki, T., Lewis, C. E., Li, H., Li, J., Li-Gao, R., Lin, H., Lin, K. H., Lin, L. A., Lin, X., Lind, L., Lindström, J., Linneberg, A., Liu, C. T., Liu, D. J., Liu, Y., Lo, K. S., Lophatananon, A., Lotery, A. J., Loukola, A., Luan, JA., Lubitz, S. A., Lyytikäinen, L. P., Männistö, S., Marenne, G., Mazul, A. L., McCarthy, M. I., McKean-Cowdin, R., Medland, S. E., Meidtner, K., Milani, L., Mistry, V., Mitchell, P., Mohlke, K. L., Moilanen, L., Moitry, M., Montgomery, G. W., Mook-Kanamori, D. O., Moore, C., Mori, T. A., Morris, A. D., Morris, A. P., Müller-Nurasyid, M., Munroe, P. B., Nalls, M. A., Nielsen, S. F., Pennell, C. E., Roberts, D. J., Wang, C. A., Wilson, J. G. & Zhou, W., 1 Jan 2018, In : Nature Genetics. 50, 1, p. 26-35 10 p.

Research output: Contribution to journalArticle

Open Access
91 Citations (Scopus)
2017
Open Access
File
2 Citations (Scopus)
256 Downloads (Pure)

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

Zhou, T., Souzeau, E., Sharma, S., Landers, J., Mills, R., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D. A., Galanopoulos, A., Casson, R. J., Ruddle, J. B., Ellis, J., Leo, P., Brown, M. A., MacGregor, S., Lynn, D. J., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In : PLoS One. 12, 3, e0172427.

Research output: Contribution to journalArticle

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5 Citations (Scopus)
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Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic

Nicol, D., Eckstein, L., Morrison, M., Sherkow, J. S., Otlowski, M., Whitton, T., Bubela, T., Burdon, K. P., Chalmers, D., Chan, S., Charlesworth, J., Critchley, C., Crossley, M., de Lacey, S., Dickinson, J. L., Hewitt, A. W., Kamens, J., Kato, K., Kleiderman, E., Kodama, S. & 6 others, Liddicoat, J., Mackey, D. A., Newson, A. J., Nielsen, J., Wagner, J. K. & McWhirter, R. E., 25 Sep 2017, In : Genome Medicine. 9, 1, 85.

Research output: Contribution to journalComment/debate

Open Access
5 Citations (Scopus)