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Abstract/Meeting Abstract

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

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

A NOVEL METHOD OF MEASURING CONJUNCTIVAL ULTRAVIOLET AUTOFLUORESCENCE AREA

Lingham, G., Burton, A., Brown, H. A., Huynh, E., Coroneo, M. T., Yazar, S. & Mackey, D. A., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 63-63 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

An update of the prevalence of myopia in an older Australian population

Mackey, D., Lingham, G., Lee, S., Hunter, M., Wood, D., Hewitt, A. W., Mitchell, P., Taylor, H. R. & Yazar, S., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p., 3954.

Research output: Contribution to journalAbstract/Meeting Abstract

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

Can colour vision defects be an advantage?

Crewe, J., Brown, H. & Mackey, D., Oct 2017, In : Clinical and Experimental Ophthalmology. 45, p. 97-97 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Can young adults accurately recall their time spent outdoors during childhood?

Lingham, G., Milne, E., Lucas, R. M., Mackey, D. A. & Yazar, S., Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, 3 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Effect of the age of myopia onset, environmental factors and genetic risk on myopia in the CREAM Consortium

Williams, K., Hysi, P. G., Sensaki, S., Tideman, W., Yazar, S., Wedenoja, J., He, M., Parssinen, O., Mackey, D. A., Klaver, C. C. W., Hammond, C. J. & Saw, S-M., Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, 3 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Open Access

FIVE NEW RISK LOCI FOR PRIMARY OPEN ANGLE GLAUCOMA IDENTIFIED USING A NOVEL METHOD: EXTREME PHENOTYPE AND QUANTITATIVE TRAIT LOCUS (EPAQ) MAPPING

Craig, J. E., Gharahkhani, P., Hewitt, A., Mackey, D., Souzeau, E., Landers, J., Graham, S., Zhou, T., Casson, R. & Macgregor, S., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 22-23 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

GENOME-WIDE ASSOCIATION STUDY OF INTRAOCULAR PRESSURE IN 133,492 PEOPLE UNCOVERS NEW PATHWAYS TO GLAUCOMA AND IMPROVES DISEASE PREDICTION

Hewitt, A., MacGregor, S., Ong, J. S., An, J., Han, X., Zhou, T., Law, M., Souzeau, E., Burdon, K., Gharahkhani, P., Mackey, D. & Craig, J., Nov 2018, In : Clinical and Experimental Ophthalmology. 46, p. 37-37 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Greater ocular sun exposure, measured objectively, is associated with increased risk of future pterygium in young adults

Lingham, G., Mackey, D., McKnight, C., Coroneo, M., Lucas, R. & Yazar, S., Nov 2019, In : Clinical and Experimental Ophthalmology. 47, p. 35-35 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Higher incidence of incisional glaucoma surgery in Mendelian vs non-Mendelian glaucoma

Kuruvilla, S., Siggs, O., Souzeau, E., Ruddle, J., Hewitt, A., Mackey, D., Macgregor, S., Landers, J., Mills, R. & Craig, J., Nov 2019, In : Clinical and Experimental Ophthalmology. 47, p. 120-121 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

INCIDENCE OF ABORIGINAL AND TORRES STRAIT ISLANDER EYE INJURIES REQUIRING HOSPITALISATION IN WESTERN AUSTRALIA

Bartnik, S., Crewe, J. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 97-98 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

IN PURSUIT OF GENE THERAPY TRIALS AND BETTER SIGHT FOR YOUNG MALES WITH LEBER'S HEREDITARY OPTIC NEUROPATHY (LHON)

Kearns, L. S., Staffieri, S. E., Ruddle, J. B., Hewitt, A. W. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 114-114 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Low serum 25-hydroxyvitamin D is not associated with myopic refractive error in Western Australian older adults

Lingham, G., Lucas, R. M., Yazar, S., Walsh, J. P., Zhu, K., Lim, E. M., Cooke, B., Hunter, M. & Mackey, D., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p., 3370.

Research output: Contribution to journalAbstract/Meeting Abstract

LOW VITAMIN D LEVELS ARE NOT ASSOCIATED WITH REFRACTIVE ERROR IN MIDDLE-AGED AND OLDER WESTERN AUSTRALIAN ADULTS

Lingham, G., Yazar, S., Lucas, R. M., Walsh, J. P., Zhu, K., Hunter, M., Lim, E. M., Cooke, B. R. & Mackey, D. A., Nov 2018, In : Clinical and Experimental Ophthalmology. 46, p. 31-32 2 p., S1003.

Research output: Contribution to journalAbstract/Meeting Abstract

Pterygium: Prevalence and Associations in Western Australian Adults

Mackey, D. A., Stevenson, L., Lingham, G., Burton, A., Brown, H., Huynh, E., Tan, I., Sanfilippo, P. & Yazar, S., Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, 3 p.

Research output: Contribution to journalAbstract/Meeting Abstract

REPEATABILITY AND NORMATIVE RANGE OF RETINAL CAPILLARY METRICS USING RTVUE XR AVANTI OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY

Sampson, D., Menghini, M., Gong, P., Hansen, A., Mackey, D., Constable, I., Sampson, D. & Chen, F., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 137-138 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

TEN YEAR INCIDENCE OF EYE INJURIES IN WESTERN AUSTRALIA

Bartnik, S., Crewe, J. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 97-97 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

The correlation between Glaucoma polygenic risk score and IOP measured by Icare (R) HOME tonometry within and outside of office hours

Awadalla, M. S., Hassall, M., Qassim, A., Thi Thi Nguyen, Han, X., MacGregor, S., Landers, J., Craig, J. E., Mackey, D. A. & Hewitt, A. W., Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, 3 p., 2404.

Research output: Contribution to journalAbstract/Meeting Abstract

1 Citation (Scopus)

THE PROFILE OF OCULAR TUMOUR IN THE WESTERN AUSTRALIAN POPULATION: 1982 TO 2016

Dickens, T-A., Franchina, M., Gajdatsy, A. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 99-99 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

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

Article
12 Citations (Scopus)

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
Zebrafish
Mutation
Exome
Cornea
Morpholinos
4 Citations (Scopus)

A genome-wide scan for microrna-related genetic variants associated with primary open-angle glaucoma

International Glaucoma Genetics Consortium (IGGC) & Mackey, D. A., 1 Oct 2017, In : Investigative Ophthalmology and Visual Science. 58, 12, p. 5368-5377 10 p.

Research output: Contribution to journalArticle

Open Access
MicroRNAs
Genome
Endophenotypes
Primary Open Angle Glaucoma
Genes
356 Citations (Scopus)

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., Elee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 56 othersMerriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., Mcallister, I., Isaacs, T., Hall, J., Lake, S., Mackey, D., Constable, I., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Etsironi, E., Park, K. H., Farrer, L. A., Orlin, A. & Brucker, A., 2016, In : Nature Genetics. 48, 2, p. 134-143

Research output: Contribution to journalArticle

Genome-Wide Association Study
Macular Degeneration
Blindness
Proteins
Therapeutics
5 Citations (Scopus)

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 othersWhite, 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
Open Angle Glaucoma
Glaucoma
Genome-Wide Association Study
Eye Diseases
Chromosome Mapping
14 Citations (Scopus)

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Thomson, B. R., Souma, T., Tompson, S. W., Onay, T., Kizhatil, K., Siggs, O. M., Feng, L., Whisenhunt, K. N., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D. N., Finzi, S., Tanna, C. E., Hewitt, A. W., Mackey, D. A., Bradfield, Y. S., Souzeau, E., Javadiyan, S., Wiggs, J. L., Pasutto, F. & 6 othersLiu, X., John, S. W. M., Craig, J. E., Jin, J., Young, T. L. & Quaggin, S. E., 1 Dec 2017, In : Journal of Clinical Investigation. 127, 12, p. 4421-4436 16 p.

Research output: Contribution to journalArticle

Open Access
Angiopoietin-1
Angiopoietins
Glaucoma
Trabecular Meshwork
Aqueous Humor
46 Citations (Scopus)

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D., Finzi, S., Mauri, L., Javadiyan, S., Souzeau, E., Zhou, T., Hewitt, A., Kloss, B. & 15 othersBurdon, K. P., Mackey, D., Allen, K. F., Ruddle, J. B., Lim, S. H., Rozen, S., Tran-Viet, K. N., Liu, X., John, S., Wiggs, J. L., Pasutto, F., Craig, J. E., Jin, J., Quaggin, S. E. & Young, T. L., Jul 2016, In : Journal of Clinical Investigation. 126, 7, p. 2575-2587

Research output: Contribution to journalArticle

Open Access
Angiopoietins
Glaucoma
Mutation
Anterior Chamber
Intraocular Pressure
22 Citations (Scopus)

Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study

Cuellar-Partida, G., Lu, Y., Kho, P. F., Hewitt, A. W., Wichmann, H. E., Yazar, S., Stambolian, D., Bailey-Wilson, J. E., Wojciechowski, R., Wang, J. J., Mitchell, P., Mackey, D. & Macgregor, S., 2016, In : Genetic Epidemiology. 40, 1, p. 66-72

Research output: Contribution to journalArticle

Myopia
Genetic Predisposition to Disease
Random Allocation
Education
Observational Studies
9 Citations (Scopus)

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

Cuellar-Partida, G., Craig, J. E., Burdon, K. P., Wang, J. J., Vote, B. J., Souzeau, E., Mcallister, I. L., Isaacs, T., Lake, S., Mackey, D. A., Constable, I. J., Mitchell, P., Hewitt, A. W. & Macgregor, S., 31 May 2016, In : Scientific Reports. 6, p. 1-6 26885.

Research output: Contribution to journalArticle

Open Access
Macular Degeneration
Genome
Genome-Wide Association Study
Blindness
Primary Open Angle Glaucoma

Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study

BIRTH-GENE (BIG) Study Working Group, 4 Sep 2019, In : JAMA Network Open. 2, 9, p. e1910915

Research output: Contribution to journalArticle

Open Access
Random Allocation
Birth Weight
Type 2 Diabetes Mellitus
Mendelian Randomization Analysis
Single Nucleotide Polymorphism
Optic Disk
Obstructive Sleep Apnea
Young Adult
Nerve Fibers
Glaucoma
36 Citations (Scopus)
269 Downloads (Pure)

Axial Length Variation Impacts on Superficial Retinal Vessel Density and Foveal Avascular Zone Area Measurements Using Optical Coherence Tomography Angiography

Sampson, D. M., Gong, P., Miller, D. D. D., Menghini, M., Hansen, A., Mackey, D. A., Sampson, D. D. & Chen, F. K., 1 Jun 2017, In : Investigative ophthalmology & visual science. 58, 7, p. 3065-3072 8 p.

Research output: Contribution to journalArticle

Open Access
File
Retinal Vessels
Optical Coherence Tomography
Angiography
Biometry
Ocular Refraction
32 Citations (Scopus)

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Fan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., Mcmahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C., Teo, Y., Wong, T. & 16 othersDing, X., Wojciechowski, R., Young, T. L., Parssinen, O., Oexle, K., Pfeiffer, N., Bailey-Wilson, J. E., Paterson, A. D., Klaver, C. C. W., Plomin, R., Hammond, C. J., Mackey, D., He, M., Saw, S., Williams, C. & Guggenheim, J. A., 13 May 2016, In : Scientific Reports. 6, 25853.

Research output: Contribution to journalArticle

Open Access
Gene-Environment Interaction
Refractive Errors
Myopia
Far East
Genome-Wide Association Study
6 Citations (Scopus)

Conjunctival Ultraviolet Autofluorescence as a Measure of Past Sun Exposure in Children

Sun, C., Pezic, A., Mackey, D. A., Carlin, J. B., Kemp, A., Ellis, J. A., Cameron, F. J., Rodda, C. P., Dwyer, T., Coroneo, M. T. & Ponsonby, A. L., Jul 2017, In : Cancer Epidemiology, Biomarkers & Prevention. 26, 7, p. 1146-1153 8 p.

Research output: Contribution to journalArticle

Solar System
Sunburn
Confidence Intervals
Odds Ratio
Eye Color
5 Citations (Scopus)
158 Downloads (Pure)

Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma

Zhou, T., Souzeau, E., Siggs, O. M., Landers, J., Mills, R., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D., Galanopoulos, A., Casson, R. J., Ruddle, J. B., Ellis, J., Leo, P., Brown, M. A., Macgregor, S., Sharma, S., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In : Investigative Ophthalmology and Visual Science. 58, 3, p. 1537-1544 8 p.

Research output: Contribution to journalArticle

Open Access
File
Glaucoma
Mutation
Genes
Exome
Primary Open Angle Glaucoma
7 Citations (Scopus)

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

Iglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Höhn, R., Springelkamp, H., Cuellar-Partida, G., Gharahkhani, P., Bailey, J. N. C., Willoughby, C. E., Li, X., Yazar, S., Nag, A., Khawaja, A. P., Polašek, O., Siscovick, D., Mitchell, P., Tham, Y. C., Haines, J. L., Kearns, L. S. & 124 othersHayward, C., Shi, Y., Van Leeuwen, E. M., Taylor, K. D., Wang, J. J., Rochtchina, E., Attia, J., Scott, R., Holliday, E. G., Baird, P. N., Xie, J., Inouye, M., Viswanathan, A., Sim, X., Bonnemaijer, P., Rotter, J. I., Martin, N. G., Zeller, T., Mills, R. A., Staffieri, S. E., Jonas, J. B., Schmidtmann, I., Boutin, T., Kang, J. H., Lucas, S. E. M., Wong, T. Y., Beutel, M. E., Wilson, J. F., Allingham, R. R., Brilliant, M. H., Budenz, D. L., Christen, W. G., Fingert, J., Friedman, D. S., Gaasterland, D., Gaasterland, T., Hauser, M. A., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Loomis, S. J., Moroi, S. E., Pericak-Vance, M. A., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Weinreb, R. N., Wollstein, G., Zack, D. J., Zhang, K., Donnelly, P., Barroso, I., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Strange, A., Su, Z., Vukcevic, D., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Uitterlinden, A. G., Vithana, E. N., Foster, P. J., Hysi, P. G., Hewitt, A. W., Khor, C. C., Pasquale, L. R., Montgomery, G. W., Klaver, C. C. W., Aung, T., Pfeiffer, N., MacKey, D. A., Hammond, C. J., Cheng, C. Y., Craig, J. E., Rabinowitz, Y. S., Wiggs, J. L., Burdon, K. P., Van Duijn, C. M. & MacGregor, S., 1 Dec 2018, In : Nature Communications. 9, 1, 1864.

Research output: Contribution to journalArticle

Open Access
eye diseases
Eye Diseases
genome
Genome-Wide Association Study
Keratoconus

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
Open Access
219 Downloads (Pure)

Differential stability of variant OPN1LW gene transcripts in myopic patients

Mountford, J. K., Davies, W. I. L., Griffiths, L. R., Yazar, S., Mackey, D. A. & Hunt, D. M., 1 Jan 2019, In : Molecular Vision. 25, p. 183-193 11 p.

Research output: Contribution to journalArticle

Open Access
File
Opsins
Genes
Nucleotides
Melanesia
RNA
21 Citations (Scopus)

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
Induced Pluripotent Stem Cells
Retinal Pigment Epithelium
Macular Degeneration
Extracellular Matrix
Pathology
3 Citations (Scopus)
170 Downloads (Pure)
Open Access
File
Refractive Errors
Nerve Fibers
Visual Acuity
Young Adult
Anesthesia

Epha2 genotype influences ultraviolet radiation induced cataract in mice

Dave, A., Craig, J. E., Skrzypiec, K., Quinn, S., Barnes, M., Di Girolamo, N., Mackey, D. A., Burdon, K. P., de Iongh, R. U. & Sharma, S., 1 Nov 2019, In : Experimental Eye Research. 188, 107806.

Research output: Contribution to journalArticle

Cataract
Genotype
Radiation
Lenses
Eph Family Receptors

Estimation of heritability and familial correlation in myopia is not affected by past sun exposure

Charng, J., Sanfilippo, P., Lingham, G., Stevenson, L., Mackey, D. & Yazar, S., 6 Dec 2019, In : Ophthalmic Genetics. 40, 6, p. 500-506 7 p.

Research output: Contribution to journalArticle

Myopia
Solar System
Anterior Chamber
Sunlight
Photography
6 Citations (Scopus)

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
2 Citations (Scopus)
61 Downloads (Pure)

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Spracklen, C. N., Karaderi, T., Yaghootkar, H., Schurmann, C., Fine, R. S., Kutalik, Z., Preuss, M. H., Lu, Y., Wittemans, L. B. L., Adair, L. S., Allison, M., Amin, N., Auer, P. L., Bartz, T. M., Blueher, M., Boehnke, M., Borja, J. B., Bork-Jensen, J., Broer, L., Chasman, D. I. & 84 othersChen, Y-D. I., Chirstofidou, P., Demirkan, A., van Duijn, C. M., Feitosa, M. F., Garcia, M. E., Graff, M., Grallert, H., Grarup, N., Guo, X., Haesser, J., Hansen, T., Harris, T. B., Highland, H. M., Hong, J., Ikram, M. A., Ingelsson, E., Jackson, R., Jousilahti, P., Kahonen, M., Kizer, J. R., Kovacs, P., Kriebel, J., Laakso, M., Lange, L. A., Lehtimaki, T., Li, J., Ruifang Li-Gao, Lind, L., Luan, J., Lyytikainen, L-P., MacGregor, S., Mackey, D. A., Mahajan, A., Mangino, M., Mannisto, S., McCarthy, M. I., McKnight, B., Medina-Gomez, C., Meigs, J. B., Molnos, S., Mook-Kanamori, D., Morris, A. P., de Mutsert, R., Nalls, M. A., Nedeljkovic, I., North, K. E., Pennell, C. E., Pradhan, A. D., Province, M. A., Raitakari, O. T., Raulerson, C. K., Reiner, A. P., Ridker, P. M., Ripatti, S., Roberston, N., Rotter, J. I., Salomaa, V., Sandoval-Zarate, A. A., Sitlani, C. M., Spector, T. D., Strauch, K., Stumvoll, M., Taylor, K. D., Thuesen, B., Toenjes, A., Uitterlinden, A. G., Venturini, C., Walker, M., Wang, C. A., Wang, S., Wareham, N. J., Willems, S. M., van Dijk, K. W., Wilson, J. G., Wu, Y., Yao, J., Young, K. L., Langenberg, C., Frayling, T. M., Kilpelainen, T. O., Lindgren, C. M., Loos, R. J. F. & Mohlke, K. L., 3 Jul 2019, In : American Journal of Human Genetics. 105, 1, p. 15-28 14 p.

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