Jamie Craig

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.

Ayub Qassim, Emmanuelle Souzeau, Owen M Siggs, Mark M Hassall, Xikun Han, Helen L Griffiths, N Andrew Frost, Neeru A Vallabh, James F Kirwan, Geeta Menon, Angela J Cree, Anna Galanopoulos, Ashish Agar, Paul R Healey, Stuart L Graham, John Landers, Robert J Casson, Puya Gharahkhani, Colin E Willoughby, Alex W Hewitt, et al.

Journal article  |  2020  |  Ophthalmology

PURPOSE: To examine the combined effects of common genetic variants associated with intraocular pressure (IOP) on primary open-ang..

Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort A Mendelian Randomization Study

Xikun Han, Jue-Sheng Ong, Jiyuan An, Jamie E Craig, Puya Gharahkhani, Alex W Hewitt, Stuart MacGregor

Journal article  |  2020  |  JAMA Ophthalmology

Importance: Rhegmatogenous retinal detachment is a potentially sight-threatening condition. The role of myopia or intraocular pres..

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.

Owen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, Andrew Dubowsky, Angela Chappell, Tiger Zhou, Shari Javadiyan, Jillian Nicholl, Lisa S Kearns, Sandra E Staffieri, Andrew Narita, James EH Smith, John Pater, Alex W Hewitt, Jonathan B Ruddle, James E Elder, David A Mackey, Kathryn P Burdon, Jamie E Craig

Journal article  |  2020  |  Ophthalmology

PURPOSE: Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CP..

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

Qiao Fan, Alfred Pozarickij, Nicholas YQ Tan, Xiaobo Guo, Virginie JM Verhoeven, Veronique Vitart, Jeremy A Guggenheim, Masahiro Miyake, J Willem L Tideman, Anthony P Khawaja, Liang Zhang, Stuart MacGregor, Rene Hoehn, Peng Chen, Ginevra Biino, Juho Wedenoja, Seyed Ehsan Saffari, Milly S Tedja, Jing Xie, Carla Lanca, et al.

Journal article  |  2020  |  Communications Biology

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and b..

Association of Genetic Variation With Keratoconus

Bennet J McComish, Srujana Sahebjada, Yelena Bykhovskaya, Colin E Willoughby, Andrea J Richardson, Abi Tenen, Jac C Charlesworth, Stuart MacGregor, Paul Mitchell, Sionne EM Lucas, Richard A Mills, David A Mackey, Xiaohui Li, Jie Jin Wang, Richard A Jensen, Jerome I Rotter, Kent D Taylor, Alex W Hewitt, Yaron S Rabinowitz, Paul N Baird, et al.

Journal article  |  2020  |  JAMA Ophthalmology

Importance: Keratoconus is a condition in which the cornea progressively thins and protrudes in a conical shape, severely affectin..

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.

Tobias Strunz, Susette Lauwen, Christina Kiel, undefined International AMD Genomics Consortium (IAMDGC), Anneke den Hollander, Bernhard HF Weber

Journal article  |  2020  |  Scientific Reports

Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent geneti..

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Pieter WM Bonnemaijer, Elisabeth M van Leeuwen, Adriana I Iglesias, Puya Gharahkhani, Veronique Vitart, Anthony P Khawaja, Mark Simcoe, Rene Hoehn, Angela J Cree, Rob P Igo, Kathryn P Burdon, Jamie E Craig, Alex W Hewitt, Jost Jonas, Chiea-Cheun Khor, Francesca Pasutto, David A Mackey, Paul Mitchell, Aniket Mishra, Calvin Pang, et al.

Journal article  |  2019  |  Communications Biology

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology

Xikun Han, Ayub Qassim, Jiyuan An, Henry Marshall, Tiger Zhou, Jue-Sheng Ong, Mark M Hassall, Pirro G Hysi, Paul J Foster, Peng T Khaw, David A Mackey, Puya Gharahkhani, Anthony P Khawaja, Alex W Hewitt, Jamie E Craig, Stuart MacGregor

Journal article  |  2019  |  Human Molecular Genetics

Optic nerve head morphology is affected by several retinal diseases. We measured the vertical optic disc diameter (DD) of the UK B..

The fight glaucoma blindness! registry: Design, baseline characteristics and early outcomes of combined cataract surgery with iStent inject

Mitchell Lawlor, Colin Clement, Helen Danesh-Meyer, Anne Brooks, Jamie Craig, Ivan Goldberg, Stuart Graham, John Grigg, Frank Howes, Ridia Lim, Simon Skalicky, Andrew White, George Kong, Nguyen Phuc

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy.

Abraham Kuot, Maurizio Ronci, Richard Mills, Sonja Klebe, Grant Snibson, Steven Wiffen, Raymond Loh, Mark Corbett, Tiger Zhou, Tim Chataway, Kathryn P Burdon, Jamie E Craig, Andrea Urbani, Shiwani Sharma

Journal article  |  2019  |  Clinical & Experimental Ophthalmology

BACKGROUND: Fuchs endothelial corneal dystrophy (FECD) is a progressive and potentially a sight threatening disease, and a common ..

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

Peter Lu, Sandy Hung, Connor Greatbatch, Helena Liang, Rick Liu, David Mackey, Anthony Cook, Stuart MacGregor, Jamie Craig, Alex Hewitt

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Epha2 genotype influences ultraviolet radiation induced cataract in mice

Alpana Dave, Jamie E Craig, Karina Skrzypiec, Stephen Quinn, Mary Barnes, Nick Di Girolamo, David A Mackey, Kathryn P Burdon, Robb U de Iongh, Shiwani Sharma

Journal article  |  2019  |  Experimental Eye Research

Age-related cataract is the major cause of blindness worldwide. Both genetic and environmental factors contribute to the disease. ..

Pronase E improves gene transduction of retinal ganglion cells

Mark Hassall, Liu Guei-Sheung, Mammone Teresa, Wood John, Jack Ao, Alex Hewitt, Robert Casson, Jamie Craig, Glyn Chidlow

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

The relative impact of monogenic and polygenic risk variants on age at glaucoma diagnosis

Owen Siggs, Emmanuelle Souzeau, Xikun Han, Ayub Qassim, Jonathan Ruddle, Andrea Vincent, Stephen Best, Robert Casson, Stuart Graham, Alex Hewitt, David Mackey, Stuart MacGregor, Jamie Craig

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

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

Shilpa Kuruvilla, Owen Siggs, Emmanuelle Souzeau, Jonathan Ruddle, Alex Hewitt, David Mackey, Stuart Macgregor, John Landers, Richard Mills, Jamie Craig

Conference Proceedings  |  2019  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

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

Andrea R Waksmunski, Michelle Grunin, Tyler G Kinzy, Robert P Igo, Jonathan L Haines, Jessica N Cooke Bailey, Lars G Fritsche, Wilmar Igl, Felix Grassmann, Sebanti Sengupta, Jennifer L Bragg-Gresham, Kathryn P Burdon, Scott J Hebbring, Cindy Wen, Mathias Gorski, Ivana K Kim, David Cho, Donald Zack, Eric Souied, Hendrik PN Scholl, et al.

Journal article  |  2019  |  Investigative Opthalmology & Visual Science

MicroRNA-Related Genetic Variants Are Associated With Diabetic Retinopathy in Type 1 Diabetes Mellitus

Ebony Liu, Georgia Kaidonis, Bennet J McComish, Mark C Gillies, Sotoodeh Abhary, Rohan W Essex, John H Chang, Bishwanath Pal, Mark Daniell, Stewart Lake, Nikolai Petrovsky, Alex W Hewitt, Alicia Jenkins, Ecosse L Lamoureux, Jonathan M Gleadle, Jamie E Craig, Kathryn P Burdon

Journal article  |  2019  |  Investigative Opthalmology & Visual Science

CRISPR/Cas-mediated base editing of the AMD high-risk Y402H complement factor H variant

Alex W Hewitt, Peter Tran, Mohd Khairul Nizam Mohd Khalid, Alice Pebay, Anthony L Cook, Helena Liang, Raymond Wong, Jamie E Craig, Guei-Sheung Liu, Sandy Hung

Journal article  |  2019  |  INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

Mona S Awadalla, Mark Hassall, Ayub Qassim, Thi Nguyen Thi, Xikun Han, Stuart MacGregor, John Landers, Jamie E Craig, David A Mackey, Alex W Hewitt

Conference Proceedings  |  2019  |  INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

David A Mackey, Jamie E Craig, Alex W Hewitt

Journal article  |  2019  |  Clinical & Experimental Ophthalmology

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig

Journal article  |  2019  |  Molecular Genetics & Genomic Medicine

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

Owen M Siggs, Emmanuelle Souzeau, Francesca Pasutto, Andrew Dubowsky, James EH Smith, Deepa Taranath, John Pater, Julian L Rait, Andrew Narita, Lucia Mauri, Alessandra Del Longo, Andre Reis, Angela Chappell, Lisa S Kearns, Sandra E Staffieri, James E Elder, Jonathan B Ruddle, Alex W Hewitt, Kathryn P Burdon, David A Mackey, et al.

Journal article  |  2019  |  JAMA Ophthalmology

Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant

Thuan Nguyen Tran Minh, Mohd Khairul Nizam Mohd Khalid, Alice Pebay, Anthony L Cook, Helena H Liang, Raymond CB Wong, Jamie E Craig, Guei-Sheung Liu, Sandy S Hung, Alex W Hewitt

Journal article  |  2019  |  MOLECULAR VISION

IMI - Myopia Genetics Report

Milly S Tedja, Annechien EG Haarman, Magda A Meester-Smoor, Jaakko Kaprio, David A Mackey, Jeremy A Guggenheim, Christopher J Hammond, Virginie JM Verhoeven, Caroline CW Klaver, Joan E Bailey-Wilson, Paul Nigel Baird, Amutha Barathi Veluchamy, Ginevra Biino, Kathryn P Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y Chew, Jamie E Craig, Phillippa M Cumberland, et al.

Journal article  |  2019  |  Investigative Opthalmology & Visual Science

Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

Ebony Liu, Georgia Kaidonis, Mark C Gillies, Sotoodeh Abhary, Rohan W Essex, John H Chang, Bishwanath Pal, Mark Daniell, Stewart Lake, Jolly Gilhotra, Nikolai Petrovsky, Alex W Hewitt, Alicia Jenkins, Ecosse L Lamoureux, Jonathan M Gleadle, Kathryn P Burdon, Jamie E Craig

Journal article  |  2019  |  Scientific Reports

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

Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, Rene Hoehn, Henriet Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polasek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, et al.

Journal article  |  2019  |  Nature Communications

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

Xikun Han, Emmanuelle Souzeau, Jue-Sheng Ong, Jiyuan An, Owen M Siggs, Kathryn P Bunion, Stephen Best, Ivan Goldberg, Paul R Healey, Stuart L Graham, Jonathan B Ruddle, Richard A Mills, John Landers, Anna Galanopoulos, Andrew JR White, Robert Casson, David A Mackey, Alex W Hewitt, Puya Gharahkhani, Jamie E Craig, et al.

Journal article  |  2019  |  JAMA Ophthalmology

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.

Owen M Siggs, Emmanuelle Souzeau, James Breen, Ayub Qassim, Tiger Zhou, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig

Journal article  |  2019  |  Molecular Vision

Purpose: Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure g..

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

Katia A Maccora, Emmanuelle Souzeau, Jonathan B Ruddle, Jamie E Craig

Journal article  |  2018  |  Clinical & Experimental Ophthalmology

CLINICAL UTILITY OF POLYGENIC RISK SCORE IN EARLY GLAUCOMA: APPLICATION IN A NATIONAL PROSPECTIVE EARLY MANIFEST GLAUCOMA COHORT

Ayub Qassim, Hassall Mark, Xikun Han, Henry Marshall, Stuart Graham, Paul Healey, Ashish Agar, John Landers, Robert Casson, Anna Galanopoulos, Mona Awadalla, Alex Hewitt, Stuart MacGregor, Jamie Craig

Conference Proceedings  |  2018  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes

Weihua Meng, Kaanan P Shah, Samuela Pollack, Iiro Toppila, Harry L Hebert, Mark I McCarthy, Leif Groop, Emma Ahlqvist, Valeriya Lyssenko, Elisabet Agardh, Mark Daniell, Georgia Kaidonis, Jamie E Craig, Paul Mitchell, Gerald Liew, Annette Kifley, Jie Jin Wang, Mark W Christiansen, Richard A Jensen, Alan Penman, et al.

Journal article  |  2018  |  Acta Ophthalmologica

CPAMD8 AND THE GENETICS OF CHILDHOOD AND CONGENITAL GLAUCOMA

Owen Siggs, Emmanuelle Souzeau, Deepa Taranath, Tiger Zhou, Andrew Dubowsky, Shari Javadiyan, Angela Chappell, Andrew Narita, James Elder, John Pater, Jonathan Ruddle, James Smith, Lisa Kearns, Sandra Staffieri, Alex Hewitt, David Mackey, Kathryn Burdon, Jamie Craig

Conference Proceedings  |  2018  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Single-Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media

Maciej Daniszewski, Nguyen Quan, Hun S Chy, Vikrant Singh, Duncan E Crombie, Tejal Kulkarni, Helena H Liang, Priyadharshini Sivakumaran, Grace E Lidgerwood, Damien Hernandez, Alison Conquest, Louise A Rooney, Sophie Chevalier, Stacey B Andersen, Anne Senabouth, James C Vickers, David A Mackey, Jamie E Craig, Andrew L Laslett, Alex W Hewitt, et al.

Journal article  |  2018  |  ISCIENCE

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Stuart MacGregor, Jue-Sheng Ong, Jiyuan An, Xikun Han, Tiger Zhou, Owen M Siggs, Matthew H Law, Emmanuelle Souzeau, Shiwani Sharma, David J Lynn, Jonathan Beesley, Bronwyn Sheldrick, Richard A Mills, John Landers, Jonathan B Ruddle, Stuart L Graham, Paul R Healey, Andrew JR White, Robert J Casson, Stephen Best, et al.

Journal article  |  2018  |  Nature Genetics

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Milly S Tedja, Robert Wojciechowski, Pirro G Hysi, Nicholas Eriksson, Nicholas A Furlotte, Virginie JM Verhoeven, Adriana I Iglesias, Magda A Meester-Smoor, Stuart W Tompson, Qiao Fan, Anthony P Khawaja, Ching-Yu Cheng, Rene Hoehn, Kenji Yamashiro, Adam Wenocur, Clare Grazal, Toomas Haller, Andres Metspalu, Juho Wedenoja, Jost B Jonas, et al.

Journal article  |  2018  |  Nature Genetics

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

Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, Rene Hoehn, Henriet Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polasek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, et al.

Journal article  |  2018  |  Nature Communications

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy

Patricia S Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C Gillies, Mark Daniell, Rohan W Essex, John H Chang, Stewart R Lake, Bishwanath Pal, Alicia J Jenkins, Alex W Hewitt, Ecosse L Lamoureux, Philip G Hykin, Nikolai Petrovsky, Matthew A Brown, Jamie E Craig, Kathryn P Burdon

Journal article  |  2018  |  BMC Medical Genetics

Association of Visual Impairment and All-Cause 10-Year Mortality Among Indigenous Australian Individuals Within Central Australia: The Central Australian Ocular Health Study.

Soo Khai Ng, Shyalle Kahawita, Nicholas Howard Andrew, Tim Henderson, Jamie Evan Craig, John Landers

Journal article  |  2018  |  JAMA Ophthalmology

Importance: It is well established from different population-based studies that visual impairment is associated with increased mor..

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.

Bao Jian Fan, Xueli Chen, Nisha Sondhi, P Ferdinamarie Sharmila, Nagasamy Soumittra, Sarangapani Sripriya, Srinivasan Sacikala, Rashima Asokan, David S Friedman, Louis R Pasquale, X Raymond Gao, Lingam Vijaya, Jessica Cooke Bailey, Veronique Vitart, Stuart MacGregor, Christopher J Hammond, Chiea Chuen Khor, Jonathan L Haines, Ronnie George, Janey L Wiggs, et al.

Journal article  |  2018  |  Investigative Opthalmology & Visual Science

Purpose: To identify genetic risk factors contributing to central corneal thickness (CCT) in individuals from South India, a popul..

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

Yukihiro Shiga, Masato Akiyama, Koji M Nishiguchi, Kota Sato, Nobuhiro Shimozawa, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata, Koichi Matsuda, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Isao Oze, Haruo Mikami, Mariko Naito, Kenji Wakai, Munemitsu Yoshikawa, Masahiro Miyake, Kenji Yamashiro, Kenji Kashiwagi, et al.

Journal article  |  2018  |  Human Molecular Genetics

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

Puya Gharahkhani, Kathryn P Burdon, Jessica N Cooke Bailey, Alex W Hewitt, Matthew H Law, Louis R Pasquale, Jae H Kang, Jonathan L Haines, Emmanuelle Souzeau, Tiger Zhou, Owen M Siggs, John Landers, Mona Awadalla, Shiwani Sharma, Richard A Mills, Bronwyn Ridge, David Lynn, Robert Casson, Stuart L Graham, Ivan Goldberg, et al.

Journal article  |  2018  |  Scientific Reports

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

Kathryn P Burdon, Mona S Awadalla, Paul Mitchell, Jie Jin Wang, Andrew White, Miriam C Keane, Emmanuelle Souzeau, Stuart L Graham, Ivan Goldberg, Paul R Healey, John Landers, Richard AD Mills, Stephen Best, Alex W Hewitt, Shiwani Sharma, Jamie E Craig

Journal article  |  2018  |  Ophthalmic Genetics

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

Sandra E Staffieri, Lisa S Kearns, Paul G Sanfilippo, Jamie E Craig, David A Mackey, Alex W Hewitt

Journal article  |  2018  |  Translational Vision Science & Technology

Association of disease-specific causes of visual impairment and 10-year mortality amongst Indigenous Australians: the Central Australian Ocular Health Study.

José Estevez, Georgia Kaidonis, Tim Henderson, Jamie E Craig, John Landers

Journal article  |  2018  |  Clinical & Experimental Ophthalmology

IMPORTANCE: Visual impairment significantly impairs the length and quality of life, but little is known of its impact in Indigenou..

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

Benjamin R Thomson, Tomokazu Souma, Stuart W Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M Siggs, Liang Feng, Kristina N Whisenhunt, Tammy L Yanovitch, Luba Kalaydjieva, Dimitar N Azmanov, Simone Finzi, Christine E Tanna, Alex W Hewitt, David A Mackey, Yasmin S Bradfield, Emmanuelle Souzeau, Shari Javadiyan, Janey L Wiggs, Francesca Pasutto, et al.

Journal article  |  2017  |  JOURNAL OF CLINICAL INVESTIGATION

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.

Sumana R Chintalapudi, Doaa Maria, Xiang Di Wang, Jessica N Cooke Bailey, undefined NEIGHBORHOOD consortium, undefined International Glaucoma Genetics consortium, Pirro G Hysi, Janey L Wiggs, Robert W Williams, Monica M Jablonski

Journal article  |  2017  |  Nat Commun

Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a..

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Shari Javadiyan, Jamie E Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M Lower, David A Mackey, Sandra E Staffieri, James E Elder, Deepa Taranath, Tania Straga, Joanna Black, John Pater, Theresa Casey, Alex W Hewitt, Kathryn P Burdon

Journal article  |  2017  |  G3: Genes|Genomes|Genetics

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases

Abraham Kuot, Alex W Hewitt, Grant R Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma

Journal article  |  2017  |  PLOS ONE

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, et al.

Journal article  |  2017  |  European Journal of Human Genetics

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

Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, David J Lynn, Kathryn P Burdon, Jamie E Craig

Journal article  |  2017  |  PLOS ONE

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

Tiger Zhou, Emmanuelle Souzeau, Owen M Siggs, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Shiwani Sharma, Kathryn P Burdon, Jamie E Craig

Journal article  |  2017  |  Investigative Opthalmology & Visual Science

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome

Seyhan Yazar, Maria Franchina, Jamie E Craig, Kathryn P Burdon, David A Mackey

Journal article  |  2017  |  Ophthalmic Genetics

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Tomokazu Souma, Stuart W Tompson, Benjamin R Thomson, Owen M Siggs, Krishnakumar Kizhatil, Shinji Yamaguchi, Liang Feng, Vachiranee Limviphuvadh, Kristina N Whisenhunt, Sebastian Maurer-Stroh, Tammy L Yanovitch, Luba Kalaydjieva, Dimitar N Azmanov, Simone Finzi, Lucia Mauri, Shahrbanou Javadiyan, Emmanuelle Souzeau, Tiger Zhou, Alex W Hewitt, Bethany Kloss, et al.

Journal article  |  2016  |  Journal of Clinical Investigation

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

Gabriel Cuellar-Partida, Jamie E Craig, Kathryn P Burdon, Jie Jin Wang, Brendan J Vote, Emmanuelle Souzeau, Ian L McAllister, Timothy Isaacs, Stewart Lake, David A Mackey, Ian J Constable, Paul Mitchell, Alex W Hewitt, Stuart MacGregor

Journal article  |  2016  |  Scientific Reports

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

Emmanuelle Souzeau, Kathryn P Burdon, Bronwyn Ridge, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig

Journal article  |  2016  |  BMC Medical Genetics

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

Qiao Fan, Virginie JM Verhoeven, Robert Wojciechowski, Veluchamy A Barathi, Pirro G Hysi, Jeremy A Guggenheim, Rene Hoehn, Veronique Vitart, Anthony P Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimaki, Yi Lu, Toomas Haller, Jing Xie, Cecile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini, et al.

Journal article  |  2016  |  Nature Communications

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

Jessica N Cooke Bailey, Stephanie J Loomis, Jae H Kang, R Rand Allingham, Puya Gharahkhani, Chiea Chuen Khor, Kathryn P Burdon, Hugues Aschard, Daniel I Chasman, Robert P Igo, Pirro G Hysi, Craig A Glastonbury, Allison Ashley-Koch, Murray Brilliant, Andrew A Brown, Donald L Budenz, Alfonso Buil, Ching-Yu Cheng, Hyon Choi, William G Christen, et al.

Journal article  |  2016  |  Nature Genetics

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

Emmanuelle Souzeau, Kathryn P Burdon, David A Mackey, Alex W Hewitt, Ravi Savarirayan, Margaret Otlowski, Jamie E Craig

Journal article  |  2016  |  Translational Vision Science & Technology

Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene

Kathryn P Burdon, Rhys D Fogarty, Weiyong Shen, Sotoodeh Abhary, Georgia Kaidonis, Binoy Appukuttan, Alex W Hewitt, Shiwani Sharma, Mark Daniell, Rohan W Essex, John H Chang, Sonja Klebe, Stewart R Lake, Bishwanath Pal, Alicia Jenkins, Gowthaman Govindarjan, Periasamy Sundaresan, Ecosse L Lamoureux, Kim Ramasamy, Maria Pefkianaki, et al.

Journal article  |  2015  |  Diabetologia

Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene

John Landers, Alex W Hewitt, Tania Straga, Kathryn P Burdon, Jamie E Craig

Journal article  |  2015  |  Clinical & Experimental Ophthalmology

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Qing Li, Robert Wojciechowski, Claire L Simpson, Pirro G Hysi, Virginie JM Verhoeven, Mohammad Kamran Ikram, Rene Hoehn, Veronique Vitart, Alex W Hewitt, Konrad Oexle, Kari-Matti Makela, Stuart MacGregor, Mario Pirastu, Qiao Fan, Ching-Yu Cheng, Beat St Pourcain, George McMahon, John P Kemp, Kate Northstone, Jugnoo S Rahi, et al.

Journal article  |  2015  |  Human Genetics

Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis

Philip C Robinson, Theodora AM Claushuis, Adrian Cortes, Tammy M Martin, David M Evans, Paul Leo, Pamela Mukhopadhyay, Linda A Bradbury, Katie Cremin, Jessica Harris, Walter P Maksymowych, Robert D Inman, Proton Rahman, Nigil Haroon, Lianne Gensler, Joseph E Powell, Irene E van der Horst-Bruinsma, Alex W Hewitt, Jamie E Craig, Lyndell L Lim, et al.

Journal article  |  2015  |  Arthritis & Rheumatology

Nail-patella syndrome and its association with glaucoma: a review of eight families

Z Mimiwati, DA Mackey, JE Craig, JR MacKinnon, JL Rait, JE Liebelt, R Ayala-Lugo, D Vollrath, JE Richards

Journal article  |  2006  |  British Journal of Ophthalmology

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

JE Craig, AW Hewitt, DP Dimasi, N Howell, C Toomes, AC Cohn, DA Mackey

Journal article  |  2006  |  British Journal of Ophthalmology

Familial transmission risk of infantile glaucoma in Australia

Alex W Hewitt, Jane R MacKinnon, Antonio Giubilato, James E Elder, Jamie E Craig, David A Mackey

Journal article  |  2006  |  Ophthalmic Genetics

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Joanne L Dickinson, Michele M Sale, Abraham Passmore, Liesel M FitzGerald, Catherine M Wheatley, Kathryn P Burdon, Jamie E Craig, Supaporn Tengtrisorn, Susan M Carden, Hector Maclean, David A Mackey

Journal article  |  2006  |  Clinical and Experimental Ophthalmology

A glaucoma case-control study of the WDR36 gene D658G sequence variant

Alex W Hewitt, David P Dimasi, David A Mackey, Jamie E Craig

Journal article  |  2006  |  American Journal of Ophthalmology

Disease severity of familial glaucoma compared with sporadic glaucoma

Johnny Wu, Alex W Hewitt, Catherine M Green, Maree A Ring, Paul J McCartney, Jamie E Craig, David A Mackey

Journal article  |  2006  |  Archives of Ophthalmology

Complex genetics of complex traits: the case of primary open-angle glaucoma

Alex W Hewitt, Jamie E Craig, David A Mackey

Journal article  |  2006  |  Clinical and Experimental Ophthalmology

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions

Shiwani Sharma, Sharyn L Ang, Marie Shaw, David A Mackey, Jozef Gecz, John W McAvoy, Jamie E Craig

Journal article  |  2006  |  Human Molecular Genetics

The PITX3 gene in posterior polar congenital cataract in Australia

KP Burdon, JD McKay, MG Wirth, IM Russel-Eggit, S Bhatti, JB Ruddle, D Dimasi, DA Mackey, JE Craig

Journal article  |  2006  |  Molecular Vision

A Myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

AW Hewitt, SL Bennett, DP Dimasi, JE Craig, DA Mackey

Journal article  |  2006  |  American Journal of Ophthalmology

A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability

MB Petersen, G Kitsos, JR Samples, ND Gaudette, E Economou-Petersen, R Sykes, K Rust, M Grigoriadou, G Aperis, D Choi, K Psilas, JE Craig, PL Kramer, DA Mackey, MK Wirtz

Journal article  |  2006  |  Investigative Ophthalmology and Visual Science

Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family

JC Charlesworth, JM Stankovich, DA Mackey, JE Craig, M Haybittel, RN Westmore, MM Sale

Journal article  |  2006  |  Ophthalmologica

A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families

PN Baird, AJ Richardson, DA Mackey, JE Craig, M Faucher, V Raymond

Journal article  |  2005  |  American Journal of Ophthalmology

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes

JD McKay, B Patterson, JE Craig, IM Russell-Eggitt, MG Wirth, KP Burdon, AW Hewitt, AC Cohn, Y Kerdraon, DA Mackey

Journal article  |  2005  |  British Journal of Ophthalmology

Evidence for a novel glaucoma locus at chromosome 3p21-22

PN Baird, SJ Foote, DA Mackey, J Craig, TP Speed, A Bureau

Journal article  |  2005  |  Human Genetics

The Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study

PN Baird, AJ Richardson, JE Craig, E Rochtchina, DA Mackey, P Mitchell

Journal article  |  2005  |  AMERICAN JOURNAL OF OPHTHALMOLOGY

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study

PN Baird, AJ Richardson, JE Craig, DA Mackey, E Rochtchina, P Mitchell

Journal article  |  2004  |  Clinical and Experimental Ophthalmology

Attitudes to predictive DNA testing for myocilin glaucoma - Experience with a large Australian family

DL Healey, GD Coun, JE Craig, CH Wilkinson, EM Stone, DA Mackey

Journal article  |  2004  |  Journal of Glaucoma

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

C Toomes, HM Bottomley, S Scott, DA Mackey, JE Craig, B Appukuttan, JT Stout, CJ Flaxel, K Zhang, GCM Black, A Fryer, LM Downey, CF Inglehearn

Journal article  |  2004  |  Investigative Ophthalmology and Visual Science

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q

C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, JE Craig, L Jiang, ZL Yang, R Trembath, G Woodruff, CY Gregory-Evans, K Gregory-Evans, MJ Parker, GCM Black, LM Downey, K Zhang, CF Inglehearn

Journal article  |  2004  |  American Journal of Human Genetics

Mechanism of topiramate-induced acute-onset myopia and angle closure glaucoma

JE Craig, TJ Ong, DL Louis, JM Wells

Journal article  |  2004  |  American Journal of Ophthalmology

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations

KP Burdon, MG Wirth, DA Mackey, IM Russell-Eggitt, JE Craig, JE Elder, JL Dickinson, MM Sale

Journal article  |  2004  |  British Journal of Ophthalmology

Primary infantile glaucoma in an Australian population

JR MacKinnon, A Giubilato, JE Elder, JE Craig, DA Mackey

Journal article  |  2004  |  Clinical and Experimental Ophthalmology

Hereditary hyperferritinemia-cataract syndrome - Prevalence, lens morphology, spectrum of mutations, and clinical presentations

JE Craig, JB Clark, JL McLeod, MA Kirkland, G Grant, JE Elder, MG Toohey, L Kowal, HF Savoia, C Chen, S Roberts, G Wirth, DA Mackey

Journal article  |  2003  |  Archives of Ophthalmology

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation

DA Mackey, DL Healey, JH Fingert, MA Coote, TL Wong, CH Wilkinson, PJ McCartney, JL Rait, AP de Graaf, EM Stone, JE Craig

Journal article  |  2003  |  Archives of Ophthalmology

Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers

CH Wilkinson, D van der Straaten, JE Craig, MA Coote, PJ McCartney, T Stankovich, EM Stone, DA Mackey

Journal article  |  2003  |  Journal of Glaucoma

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

PN Baird, JE Craig, AJ Richardson, MA Ring, P Sim, S Stanwix, SJ Foote, DA Mackey

Journal article  |  2003  |  Human Genetics

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.

Michèle M Sale, Jamie E Craig, Jacinta C Charlesworth, Liesel M FitzGerald, Isabel M Hanson, Joanne L Dickinson, Sarah J Matthews, Veronica van Heyningen Vv, John H Fingert, David A Mackey

Journal article  |  2002  |  Human Mutation

The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying th..

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

JL McLeod, J Craig, S Gumley, S Roberts, MA Kirkland

Journal article  |  2002  |  British Journal of Haematology

Retinopathy of prematurity: Recent advances in our understanding

CM Wheatley, JL Dickinson, DA Mackey, JE Craig, MM Sale

Journal article  |  2002  |  British Journal of Ophthalmology

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier

JE Craig, PN Baird, DL Healey, AI McNaught, PJ McCartney, JL Rait, JL Dickinson, L Roe, JH Fingert, EM Stone, DA Mackey

Journal article  |  2001  |  Ophthalmology

The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma

PN Baird, J Dickinson, JE Craig, DA Mackey

Journal article  |  2001  |  American Journal of Ophthalmology

Laboratory methods in ophthalmic genetics: obtaining DNA from patients.

JL Dickinson, MM Sale, JE Craig, DA Mackey

Journal article  |  2001  |  Ophthalmic Genetics

DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology h..

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

DY Nishimura, CC Searby, WL Alward, D Walton, JE Craig, DA Mackey, K Kawase, AB Kanis, SR Patil, EM Stone, VC Sheffield

Journal article  |  2001  |  American Journal of Human Genetics

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension

JH Fingert, AF Clark, JE Craig, WLM Alward, GR Snibson, M McLaughlin, L Tuttle, DA Mackey, VC Sheffield, EM Stone

Journal article  |  2001  |  Investigative Ophthalmology and Visual Science