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David Mackey

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TOP 3
Paul Sanfilippo; Jenny A Mountain; Alex W Hewitt; David A Mackey
A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism.
Felicia Hawthorne; Pirro G Hysi; Yi-Ju Li; David A Mackey; Francois Malecaze; Ravikanth Metlapally; Thomas Rosenberg; Khanh-Nhat Tran-Viet; Cristina Venturini; Patrick Calvas; Sheng Feng; Jeremy A Guggenheim; Christopher J Hammond; Terri L Young
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
Margarida C Lopes; Stuart Macgregor; David A Mackey; Grant W Montgomery; Ben Oostra; Jugnoo S Rahi; Andre G Uitterlinden; Cornelia M van Duijn; Virginie J M Verhoeven; Johannes R Vingerling; Terri L Young; Toby Andrew; Phillippa Cumberland; Alex W Hewitt; Pirro G Hysi; Caroline C W Klaver; Christopher J Hammond
Identification of a candidate gene for astigmatism.

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All Publications

2013: Paul Sanfilippo; Jenny A Mountain; Alex W Hewitt; David A Mackey
A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2013;16(2):590-600.
2013: Felicia Hawthorne; Pirro G Hysi; Yi-Ju Li; David A Mackey; Francois Malecaze; Ravikanth Metlapally; Thomas Rosenberg; Khanh-Nhat Tran-Viet; Cristina Venturini; Patrick Calvas; Sheng Feng; Jeremy A Guggenheim; Christopher J Hammond; Terri L Young
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
Investigative ophthalmology & visual science 2013;54(3):2076-86.
2013: Margarida C Lopes; Stuart Macgregor; David A Mackey; Grant W Montgomery; Ben Oostra; Jugnoo S Rahi; Andre G Uitterlinden; Cornelia M van Duijn; Virginie J M Verhoeven; Johannes R Vingerling; Terri L Young; Toby Andrew; Phillippa Cumberland; Alex W Hewitt; Pirro G Hysi; Caroline C W Klaver; Christopher J Hammond
Identification of a candidate gene for astigmatism.
Investigative ophthalmology & visual science 2013;54(2):1260-7.
2012: Charlotte M McKnight; Jenny A Mountain; John P Newnham; Craig E Pennell; Ian B Puddey; Fiona J Stanley; Lawrence J Beilin; Louis I Landau; David A Mackey
Birth of a cohort--the first 20 years of the Raine study.
The Medical journal of Australia 2012;197(11):608-10.
2012: Maria Franchina; David A Mackey; Jason Toniolo; Alex W Hewitt
Google-based search of common blinding diseases: a reflection of public concerns.
The British journal of ophthalmology 2012;96(11):1444-5.
2012: David P Dimasi; Jude Fitzgerald; Paul R Healey; Alex W Hewitt; David A Mackey; Paul Mitchell; Jie Jin Wang; Kathryn P Burdon; Jamie E Craig
Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.
American journal of ophthalmology 2012;154(5):833-842.e2.
2012: Aniket Mishra; Grant W Montgomery; Jenny A Mountain; Craig E Pennell; Seyhan Yazar; Terri L Young; Wei Ang; Christopher J Hammond; Alex W Hewitt; Stuart Macgregor; Nicholas G Martin; David A Mackey
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
Investigative ophthalmology & visual science 2012;53(11):7131-6.
2012: Paul Sanfilippo; Harold Snieder; Tim D Spector; Sandra E Staffieri; Jeremy B Wilmer; Jane R MacKinnon; Nicholas G Martin; S H Melissa Liew; Julie M Barbour; Shayne A Brown; Dongliang Ge; Christopher J Hammond; Alex W Hewitt; Lisa S Kearns; Birgit Lorenz; David A Mackey
Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2012;15(5):624-30.
2012: Justin C Sherwin; Ruth H Keogh; Anthony P Khawaja; David A Mackey; Mark Reacher; Paul J Foster
The association between time spent outdoors and myopia in children and adolescents: a systematic review and meta-analysis.
Ophthalmology 2012;119(10):2141-51.
2012: Shiwani Sharma; John P M Wood; Kathryn P Burdon; Robert Casson; Glyn Chidlow; April Crawford; Patrick Danoy; Alpana Dave; David P Dimasi; Kim Griggs; Alex W Hewitt; Shahrbanou Javadiyan; Sonja Klebe; John Landers; David A Mackey; Sarah Martin; Paul Mitchell; Jamie E Craig
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.
Investigative ophthalmology & visual science 2012;53(8):4917-25.
2012: Kathryn P Burdon; Robert J Casson; April Crawford; Patrick Danoy; Paul R Healey; Alex W Hewitt; John Landers; David A Mackey; Paul Mitchell; Jamie E Craig
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma.
Ophthalmology 2012;119(8):1539-45.
2012: Emmanuelle Souzeau; James Stewart; Tania Straga; Bronwyn Usher; Andrew White; Kathryn P Burdon; Robert J Casson; Michael A Coote; April Crawford; Ivan Goldberg; Stuart L Graham; John R B Grigg; Paul R Healey; Alex W Hewitt; John Landers; David A Mackey; Richard A D Mills; William H Morgan; Jonathan B Ruddle; Jamie E Craig
Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.
Clinical & experimental ophthalmology 2012;40(6):569-75.
2012: Justin C Sherwin; Minas T Coroneo; Lyn R Griffiths; Alex W Hewitt; Lisa S Kearns; David A Mackey
The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure.
Investigative ophthalmology & visual science 2012;53(8):4363-70.
2012: Thomas L Edwards; Lisa S Kearns; Graeme C M Black; Benjamin O Burt; Robert G Buttery; Rahat Perveen; Sandra E Staffieri; Carmel Toomes; David A Mackey
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
Clinical & experimental ophthalmology 2012;40(5):476-83.
2012: David A Mackey
Your time starts now - translation time lines for major ophthalmic discoveries.
The Medical journal of Australia 2012;196(11):672-4.
2012: Justin C Sherwin; Charlotte M McKnight; Minas T Coroneo; Lyn R Griffiths; Alex W Hewitt; David A Mackey
Reliability and validity of conjunctival ultraviolet autofluorescence measurement.
The British journal of ophthalmology 2012;96(6):801-5.
2012: Hannah Forward; Alex W Hewitt; David A Mackey
Missing X and Y: a review of participant ages in population-based eye studies.
Clinical & experimental ophthalmology 2012;40(3):305-19.
2012: David A Mackey
Genetic eye research in Tasmania: a historical overview.
Clinical & experimental ophthalmology 2012;40(2):205-10.
2012: Gary Rance; Lisa Rosenfeld; Johanna Tan; Fleur O'Hare; Peter Carew; Anthony Gravina; Kelley Graydon; Lauren Henley; Lisa S Kearns; David A Mackey
Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.
Journal of neurology 2012;259(3):542-50.
2012: David A Mackey; Paul Sanfilippo; Andrew Godfrey; Elizabeth Zambotti
Fail-to-attend rates in a private ophthalmology clinic by age group.
Clinical & experimental ophthalmology 2012;40(2):221-3.
2012: David A Mackey; Jenny A Mountain; Sandra K Oates; Geoffrey J Crawford; Alex W Hewitt; Alla Soloshenko; Nicole M Warrington; Seyhan Yazar; Craig E Pennell
Role of the TCF4 gene intronic variant in normal variation of corneal endothelium.
Cornea 2012;31(2):162-6.
2012: Janey L Wiggs; Anthony Realini; Dan Yi Wang; Jamie E Craig; David P Dimasi; Bao Jian Fan; Dayse R Figueiredo Sena; Jonathan L Haines; Alex W Hewitt; David A Mackey; Colm O'Brien; Louis R Pasquale
The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma.
PloS one 2012;7(9):e45613.
2012: Yaling Ma; Lucy P Dobson; Ryo Kawasaki; Lisa S Kearns; Jonathan B Ruddle; Tien Y Wong; David A Mackey
Quantitative analysis of retinal vessel attenuation in eyes with retinitis pigmentosa.
Investigative ophthalmology & visual science 2012;53(7):4306-14.
2011: Manir Ali; Adam Booth; David W Burt; William J Curry; Sorcha Finnegan; Paul M Hocking; Samuel G Jacobson; Hussain Jafri; Douglas H Lester; David A Mackey; Martin McKibbin; James A Poulter; Katrina Prescott; Yasmin Raashid; Jonathan B Ruddle; Mike Shires; Carmel Toomes; Chris F Inglehearn
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Investigative ophthalmology & visual science 2011;52(10):7432-40.
2011: Kathryn P Burdon; Stuart Macgregor; Alex W Hewitt; Shiwani Sharma; Glyn Chidlow; Richard A Mills; Patrick Danoy; Robert Casson; Ananth C Viswanathan; Jimmy Z Liu; John Landers; Anjali K Henders; John Wood; Emmanuelle Souzeau; April Crawford; Paul Leo; Jie Jin Wang; Elena Rochtchina; Dale R Nyholt; Nicholas G Martin; Grant W Montgomery; Paul Mitchell; Matthew A Brown; David A Mackey; Jamie E Craig
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
Nature genetics 2011;43(6):574-8.
2011: Justin C Sherwin; Lisa S Kearns; Alex W Hewitt; Yaling Ma; John Kelly; Lyn R Griffiths; David A Mackey
Prevalence of chronic ocular diseases in a genetic isolate: the Norfolk Island Eye Study (NIES).
Ophthalmic epidemiology 2011;18(2):61-71.
2011: Tyson R Kinnick; robert Mullins; Sundeep Dev; Monique Leys; David A Mackey; Christine N Kay; Byron Lam; Gerald A Fishman; Elias Traboulsi; Raymond Iezzi Jr.; Edwin M Stone
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
Retina (Philadelphia, Pa.) 2011;31(3):581-95.
2011: Dimitar N Azmanov; Stanislava Dimitrova; Laura Florez; Sylvia Cherninkova; Dragomir Draganov; Bharti Morar; Rosmawati Saat; Manel Juan; Juan I Arostegui; Sriparna Ganguly; Himla Soodyall; Subhabrata Chakrabarti; Harish Padh; Miguel A López-Nevot; Violeta Chernodrinska; Botio Anguelov; Partha Majumder; Lyudmila Angelova; RAdka Kaneva; David A Mackey; Ivailo Tournev; Luba Kalaydjieva
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
European journal of human genetics : EJHG 2011;19(3):326-33.
2011: Samantha J Fahy; Cong Sun; Gu Zhu; Paul R Healey; Tim D Spector; Nicolas G Martin; Paul Mitchell; Tien Y Wong; David A Mackey; Christopher J Hammond; Toby Andrew
The relationship between retinal arteriolar and venular calibers is genetically mediated, and each is associated with risk of cardiovascular disease.
Investigative ophthalmology & visual science 2011;52(2):975-81.
2011: Divya S Pratap; Richard J Stawell; Jie Jin Wang; Kathryn P Burdon; Jamie E Craig; Anthony J Hall; Lisa S Kearns; Lyndell L Lim; David A Mackey; Paul Mitchell; Alex W Hewitt
The role of toll-like receptor variants in acute anterior uveitis.
Molecular vision 2011;17():2970-7.
2010: Cong Sun; Anne-Louise Ponsonby; Shayne A Brown; Lisa S Kearns; Jane R Mackinnon; Julie M Barbour; Jonathan B Ruddle; Alex W Hewitt; Margret J Wright; Nicholas G Martin; Terence Dwyer; David A Mackey
Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: the Australian Twins Eye Study.
American journal of ophthalmology 2010;150(6):909-16.
2010: Paul Sanfilippo; Alex W Hewitt; Christopher J Hammond; David A Mackey
The heritability of ocular traits.
Survey of ophthalmology 2010;55(6):561-83.
2010: Li Tang; Todd E Scheetz; David A Mackey; Alex W Hewitt; John H Fingert; Young H Kwon; Gwenole Quellec; Joseph M Reinhardt; Michael D Abràmoff
Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape.
Investigative ophthalmology & visual science 2010;51(11):5870-7.
2010: Pirro G Hysi; Terri L Young; David A Mackey; Toby Andrew; Alberto Fernández-Medarde; Abbas M Solouki; Alex W Hewitt; Stuart Macgregor; Johannes R Vingerling; Yi-Ju Li; M Kamran Ikram; Lee Yiu Fai; Pak C Sham; Lara Manyes; Angel Porteros; Margarida C Lopes; Francis Carbonaro; Samantha J Fahy; Nicholas G Martin; Cornelia M van Duijn; Timothy D Spector; Jugnoo S Rahi; Eugenio Santos; Caroline C W Klaver; Christopher J Hammond
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.
Nature genetics 2010;42(10):902-5.
2010: Paul Sanfilippo; Andrea Cardini; Ian A Sigal; Jonathan B Ruddle; Brian E Chua; Alex W Hewitt; David A Mackey
A geometric morphometric assessment of the optic cup in glaucoma.
Experimental eye research 2010;91(3):405-14.
2010: David A Mackey; Ian Trounce
Genetics: Optic nerve genetics--more than meets the eye.
Nature reviews. Neurology 2010;6(7):357-8.
2010: Stuart Macgregor; Alex W Hewitt; Pirro G Hysi; Jonathan B Ruddle; Sarah E Medland; Anjali K Henders; Scott D Gordon; Toby Andrew; Brian McEvoy; Paul Sanfilippo; Francis Carbonaro; Vikas Tah; Yi Ju Li; Sonya L Bennett; Jamie E Craig; Grant W Montgomery; Khanh-Nhat Tran-Viet; Nadean L Brown; Timothy D Spector; Nicholas G Martin; Terri L Young; Christopher J Hammond; David A Mackey
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Human molecular genetics 2010;19(13):2716-24.
2010: F Carbonaro; Toby Andrew; David A Mackey; T D Spector; Christopher J Hammond
Comparison of three methods of intraocular pressure measurement and their relation to central corneal thickness.
Eye (London, England) 2010;24(7):1165-70.
2010: Yi Lu; David P Dimasi; Pirro G Hysi; Alex W Hewitt; Kathryn P Burdon; Tze'Yo Toh; Jonathan B Ruddle; Yi Ju Li; Paul Mitchell; Paul R Healey; Grant W Montgomery; Narelle K Hansell; Timothy D Spector; Nicholas G Martin; Terri L Young; Christopher J Hammond; Stuart Macgregor; Jamie E Craig; David A Mackey
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
PLoS genetics 2010;6(5):e1000947.
2010: Katherine V Towns; Athina Kipioti; Vernon Long; Martin McKibbin; Cecilia Maubaret; Veronika Vaclavik; Parastoo Ehsani; Kelly Springell; Mohamed Kamal; Raj S Ramesar; David A Mackey; Anthony T Moore; Rajarshi Mukhopadhyay; Andrew R Webster; Graeme C M Black; James O'Sullivan; Shomi S Bhattacharya; Eric A Pierce; Jean D Beggs; Chris F Inglehearn
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Human mutation 2010;31(5):E1361-76.
2010: Sandra E Staffieri; Jonathan B Ruddle; David A Mackey
Rock, paper and scissors? Traumatic paediatric cataract in Victoria 1992-2006.
Clinical & experimental ophthalmology 2010;38(3):237-41.
2010: Evelyn C O'Neill; Helen V Danesh-Meyer; Paul P Connell; Ian A Trounce; Michael A Coote; David A Mackey; Jonathan G Crowston
The optic nerve head in acquired optic neuropathies.
Nature reviews. Neurology 2010;6(4):221-36.
2010: Lisa S Kearns; Michael Forrest; Amy C Cohn; Amanda J Churchill; David A Mackey
Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
Ophthalmic genetics 2010;31(1):44-6.
2010: Alex W Hewitt; Johnny Wu; Catherine M Green; Tze Lai; Lisa S Kearns; Jamie E Craig; David A Mackey
Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania.
Acta ophthalmologica 2010;88(1):70-4.
2010: Georgios Kitsos; Zacharias Petrou; Maria Grigoriadou; John R Samples; Alex W Hewitt; Haris Kokotas; Aglaia Giannoulia-Karantana; David A Mackey; Mary K Wirtz; Marilita Moschou; John Ioannidis; Michael B Petersen
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.
Clinical ophthalmology (Auckland, N.Z.) 2010;4():171-8.
2010: David P Dimasi; Jern Y Chen; Alex W Hewitt; Sonja Klebe; Richard Davey; John Stirling; Elizabeth Thompson; Robin Forbes; Tiong Y Tan; Ravi Savarirayan; David A Mackey; Paul R Healey; Paul Mitchell; Kathryn P Burdon; Jamie E Craig
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
Human genetics 2010;127(1):33-44.
2010: Alex W Hewitt; Paul Sanfilippo; M A Ring; Jamie E Craig; David A Mackey
Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'.
Eye (London, England) 2010;24(1):59-63.
2009: Francis Carbonaro; Toby Andrew; David A Mackey; Terri L Young; Tim D Spector; Christopher J Hammond
Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies.
Investigative ophthalmology & visual science 2009;50(11):5115-9.
2009: David A Mackey; Jane R MacKinnon; Shayne A Brown; Lisa S Kearns; Jonathan B Ruddle; Paul Sanfilippo; Cong Sun; Christopher J Hammond; Terri L Young; Nicholas G Martin; Alex W Hewitt
Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2009;12(5):441-54.
2009: Cong Sun; Gu Zhu; Tien Y Wong; Alex W Hewitt; Jonathan B Ruddle; Lauren Hodgson; Grant W Montgomery; Terri L Young; Christopher J Hammond; Jamie E Craig; Nicholas G Martin; Mingguang He; David A Mackey
Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study.
Hypertension 2009;54(4):788-95.
2009: John A Landers; Alex W Hewitt; David P Dimasi; Jac C Charlesworth; Tania Straga; Richard A D Mills; Ravi Savarirayan; David A Mackey; Kathryn P Burdon; Jamie E Craig
Heritability of central corneal thickness in nuclear families.
Investigative ophthalmology & visual science 2009;50(9):4087-90.
2009: David A Mackey
The 'I' in personalized genetics: 2008 Ian Constable lecture.
Clinical & experimental ophthalmology 2009;37(5):434-43.
2009: Paul Sanfilippo; Andrea Cardini; Alex W Hewitt; Jonathan G Crowston; David A Mackey
Optic disc morphology--rethinking shape.
Progress in retinal and eye research 2009;28(4):227-48.
2009: Evelyn C O'Neill; David A Mackey; Paul P Connell; Alex W Hewitt; Helen V Danesh-Meyer; Jonathan G Crowston
The optic nerve head in hereditary optic neuropathies.
Nature reviews. Neurology 2009;5(5):277-87.
2009: Manir Ali; Martin McKibbin; Adam Booth; David A Parry; Payal Jain; Sheikh Amer Riazuddin; J Fielding Hejtmancik; Shaheen N Khan; Sabika Firasat; Mike Shires; David F Gilmour; Katherine Towns; Anna-Louise Murphy; Dimitar Azmanov; Ivailo Tournev; Sylvia Cherninkova; Hussain Jafri; Yasmin Raashid; Carmel Toomes; Jamie Craig; David A Mackey; Luba Kalaydjieva; Sheikh Riazuddin; Chris F Inglehearn
Null mutations in LTBP2 cause primary congenital glaucoma.
American journal of human genetics 2009;84(5):664-71.
2009: Justin C Sherwin; Alex W Hewitt; Sonya L Bennett; Paul N Baird; Jamie E Craig; David A Mackey
Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype.
Clinical & experimental ophthalmology 2009;37(2):201-7.
2009: Cong Sun; Anne-Louise Ponsonby; Tien Y Wong; Shayne A Brown; Lisa S Kearns; Jenny Cochrane; Jane R MacKinnon; Jonathan B Ruddle; Alex W Hewitt; Gerald Liew; Terence Dwyer; Katrina J Scurrah; David A Mackey
Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania.
Hypertension 2009;53(3):487-93.
2009: Liesel M FitzGerald; Briony Patterson; Russell Thomson; Andrea Polanowski; Stephen Quinn; Jesper Brohede; Timothy Thornton; David Challis; David A Mackey; Terence Dwyer; Simon Foote; Garry N Hannan; Jim Stankovich; James D McKay; Joanne L Dickinson
Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease.
European journal of human genetics : EJHG 2009;17(3):368-77.
2009: Cong Sun; Jie Jin Wang; David A Mackey; Tien Y Wong
Retinal vascular caliber: systemic, environmental, and genetic associations.
Survey of ophthalmology 2009;54(1):74-95.
2008: Justin C Sherwin; Alex W Hewitt; Jonathan B Ruddle; David A Mackey
Genetic isolates in ophthalmic diseases.
Ophthalmic genetics 2008;29(4):149-61.
2008: A C Cohn; C Toomes; Alex W Hewitt; L S Kearns; Chris F Inglehearn; Jamie E Craig; David A Mackey
The natural history of OPA1-related autosomal dominant optic atrophy.
The British journal of ophthalmology 2008;92(10):1333-6.
2008: Francis Carbonaro; Toby Andrew; David A Mackey; Tim D Spector; Christopher J Hammond
The heritability of corneal hysteresis and ocular pulse amplitude: a twin study.
Ophthalmology 2008;115(9):1545-9.
2008: F Carbonaro; Toby Andrew; David A Mackey; Tim D Spector; Christopher J Hammond
Heritability of intraocular pressure: a classical twin study.
The British journal of ophthalmology 2008;92(8):1125-8.
2008: David A Mackey
Gillies lecture: dissecting glaucoma: understanding the molecular risk factors.
Clinical & experimental ophthalmology 2008;36(5):403-9.
2008: Alex W Hewitt; Shiwani Sharma; Kathryn P Burdon; Jie Jin Wang; Paul N Baird; David P Dimasi; David A Mackey; Paul Mitchell; Jamie E Craig
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
Human molecular genetics 2008;17(5):710-6.
2008: Alex W Hewitt; David A Mackey; Jamie E Craig
Myocilin allele-specific glaucoma phenotype database.
Human mutation 2008;29(2):207-11.
2007: Catherine M Green; Lisa S Kearns; Johnny Wu; Julie M Barbour; Robyn M Wilkinson; Maree A Ring; Jamie E Craig; Tiffany L Wong; Alex W Hewitt; David A Mackey
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania.
Clinical & experimental ophthalmology 2007;35(9):793-9.
2007: Anne-Louise Ponsonby; S A Brown; Lisa S Kearns; J R MacKinnon; Lindsey W Scotter; J A Cochrane; David A Mackey
The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the Twins Eye Study in Tasmania.
Ophthalmic epidemiology 2007;14(6):351-9.
2007: Alex W Hewitt; Lisa S Kearns; Robyn V Jamieson; Kathleen A Williamson; Veronica van Heyningen; David A Mackey
PAX6 mutations may be associated with high myopia.
Ophthalmic genetics 2007;28(3):179-82.
2007: Chandrakumar Balaratnasingam; William H Morgan; John Nelson; David A Mackey; David P Dimasi; Geoffrey Lam
Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma.
Ophthalmic genetics 2007;28(3):157-62.
2007: David P Dimasi; Alex W Hewitt; T Straga; J Pater; J R MacKinnon; James E Elder; T Casey; David A Mackey; Jamie E Craig
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
Clinical genetics 2007;72(3):255-60.
2007: Kathryn P Burdon; Shiwani Sharma; Celia S Chen; David P Dimasi; David A Mackey; Jamie E Craig
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.
Human mutation 2007;28(7):742.
2007: Alex W Hewitt; Johan P Poulsen; Wallace L M Alward; Sonya L Bennett; Wido M Budde; Richard Leigh Cooper; Jamie E Craig; John H Fingert; Paul J Foster; David F Garway-Heath; Catherine M Green; Christopher J Hammond; Sohan Singh Hayreh; Jost B Jonas; Paul L Kaufman; Neil R Miller; William H Morgan; Nancy J Newman; Harry A Quigley; John R Samples; George L Spaeth; Konrad Pesudovs; David A Mackey
Heritable features of the optic disc: a novel twin method for determining genetic significance.
Investigative ophthalmology & visual science 2007;48(6):2469-75.
2007: Amy C Cohn; Carmel Toomes; Catherine Potter; Katherine V Towns; Alex W Hewitt; Chris F Inglehearn; Jamie E Craig; David A Mackey
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
American journal of ophthalmology 2007;143(4):656-62.
2007: Alex W Hewitt; John R Samples; R Rand Allingham; Irma Järvelä; Georgios Kitsos; Subbaiah Ramasamy Krishnadas; Julia E Richards; Paul R Lichter; Michael B Petersen; Sundaresan Periasamy; Janey L Wiggs; David A Mackey; Mary K Wirtz
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.
Molecular vision 2007;13():487-92.
2007: Sonya L Bennett; Alex W Hewitt; Johan L Poulsen; Lisa S Kearns; James E Morgan; Jamie E Craig; David A Mackey
Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees.
Archives of ophthalmology 2007;125(1):112-6.
2007: Alex W Hewitt; Sonya L Bennett; Julia E Richards; David P Dimasi; Adam P Booth; Chris F Inglehearn; Rashida Anwar; Tetsuya Yamamoto; John H Fingert; Elise Héon; Jamie E Craig; David A Mackey
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Archives of ophthalmology 2007;125(1):98-104.
2007: Alex W Hewitt; Sonya L Bennett; John H Fingert; Richard L Cooper; Edwin M Stone; Jamie E Craig; David A Mackey
The optic nerve head in myocilin glaucoma.
Investigative ophthalmology & visual science 2007;48(1):238-43.
2006: Z Mimiwati; David A Mackey; Jamie E Craig; J R Mackinnon; Julian L Rait; J E Liebelt; R Ayala-Lugo; Douglas Vollrath; Julia E Richards
Nail-patella syndrome and its association with glaucoma: a review of eight families.
The British journal of ophthalmology 2006;90(12):1505-9.
2006: Jamie E Craig; Alex W Hewitt; David P Dimasi; N Howell; Carmel Toomes; Amy C Cohn; David A Mackey
The role of the Met98Lys optineurin variant in inherited optic nerve diseases.
The British journal of ophthalmology 2006;90(11):1420-4.
2006: Alex W Hewitt; Jane R MacKinnon; Antonio Giubilato; James E Elder; Jamie E Craig; David A Mackey
Familial transmission risk of infantile glaucoma in Australia.
Ophthalmic genetics 2006;27(3):93-7.
2006: Joanne L Dickinson; Michèle 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
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
Clinical & experimental ophthalmology 2006;34(7):682-8.
2006: Alex W Hewitt; David P Dimasi; David A Mackey; Jamie E Craig
A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant.
American journal of ophthalmology 2006;142(2):324-5.
2006: Alex W Hewitt; Jamie E Craig; David A Mackey
Complex genetics of complex traits: the case of primary open-angle glaucoma.
Clinical & experimental ophthalmology 2006;34(5):472-84.
2006: Johnny Wu; Alex W Hewitt; Catherine M Green; Maree A Ring; Paul J McCartney; Jamie E Craig; David A Mackey
Disease severity of familial glaucoma compared with sporadic glaucoma.
Archives of ophthalmology 2006;124(7):950-4.
2006: Shiwani Sharma; Sharyn L Ang; Marie Shaw; David A Mackey; Jozef Gécz; John W McAvoy; Jamie E Craig
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
Human molecular genetics 2006;15(12):1972-83.
2006: Alex W Hewitt; Sonya L Bennett; David P Dimasi; Jamie E Craig; David A Mackey
A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases.
American journal of ophthalmology 2006;141(2):402-3.
2006: Michael B Petersen; Georgios Kitsos; John R Samples; N Donna Gaudette; Effrosini Economou-Petersen; Renée Sykes; Kristal Rust; Maria Grigoriadou; George Aperis; Dongseok Choi; Konstantinos Psilas; Jamie E Craig; Patricia L Kramer; David A Mackey; Mary K Wirtz
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.
Investigative ophthalmology & visual science 2006;47(2):620-5.
2006: Kathryn P Burdon; James D McKay; M Gabriela Wirth; Isabelle M Russell-Eggit; Samira Bhatti; Jonathan B Ruddle; David P Dimasi; David A Mackey; Jamie E Craig
The PITX3 gene in posterior polar congenital cataract in Australia.
Molecular vision 2006;12():367-71.
2006: Jac C Charlesworth; Jim Stankovich; David A Mackey; Jamie E Craig; Michael Haybittel; Rodney N Westmore; Michèle M Sale
Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2006;220(1):23-30.
2005: Charles M Krafchak; Hemant Pawar; Sayoko E Moroi; Alan Sugar; Paul R Lichter; David A Mackey; Shahzad I Mian; Theresa M Cooney; Victor M Elner; Miriam T Schteingart; Catherine A Downs; Theresa Guckian Kijek; Jenae M Johnson; Edward H Trager; Frank W Rozsa; Md Nawajes A Mandal; Michael P Epstein; Douglas Vollrath; Radha Ayyagari; Michael Boehnke; Julia E Richards
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
American journal of human genetics 2005;77(5):694-708.
2005: Paul N Baird; Andrea J Richardson; David A Mackey; Jamie E Craig; Mathieu Faucher; Vincent Raymond
A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families.
American journal of ophthalmology 2005;140(4):760-2.
2005: Jac C Charlesworth; Thomas D Dyer; Jim Stankovich; John C Blangero; David A Mackey; Jamie E Craig; Catherine M Green; Simon J Foote; Paul N Baird; Michèle M Sale
Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree.
Investigative ophthalmology & visual science 2005;46(10):3723-9.
2005: Tze'Yo Toh; S H Melissa Liew; Jane R MacKinnon; Alex W Hewitt; Johan L Poulsen; Tim D Spector; Clare E Gilbert; Jamie E Craig; Christopher J Hammond; David A Mackey
Central corneal thickness is highly heritable: the twin eye studies.
Investigative ophthalmology & visual science 2005;46(10):3718-22.
2005: David P Dimasi; A W Hewitt; Catherine M Green; David A Mackey; Jamie E Craig
Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma.
Journal of medical genetics 2005;42(9):e55.
2005: James D McKay; B Patterson; Jamie E Craig; Isabelle Russell-Eggitt; M Gabriela Wirth; Kathryn P Burdon; Alex W Hewitt; Amy C Cohn; Y Kerdraon; David A Mackey
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
The British journal of ophthalmology 2005;89(7):831-4.
2005: Paul N Baird; Simon J Foote; David A Mackey; Jamie Craig; Terence P Speed; Alexandre Bureau
Evidence for a novel glaucoma locus at chromosome 3p21-22.
Human genetics 2005;117(2-3):249-57.
2005: Tze'Yo Toh; Lisa S Kearns; Lindsey W Scotter; David A Mackey
Post-cycloplegia myopic shift in an older population.
Ophthalmic epidemiology 2005;12(3):215-9.
2005: Paul N Baird; Andrea J Richardson; Jamie E Craig; Elena Rochtchina; David A Mackey; Paul Mitchell
The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study.
American journal of ophthalmology 2005;139(6):1125-6.
2005: Alex W Hewitt; Liesel M FitzGerald; Lindsey W Scotter; Lindsay E Mulhall; James D McKay; David A Mackey
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
Clinical & experimental ophthalmology 2005;33(3):233-9.
2005: Katherine A Smallcombe; Lisa S Kearns; David A Mackey
Introducing a new retinitis pigmentosa patient information website.
Clinical & experimental ophthalmology 2005;33(2):227.
2005: Amy C Cohn; Lisa S Kearns; Ravi Savarirayan; Jacinta Ryan; Jamie E Craig; David A Mackey
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.
Ophthalmic genetics 2005;26(1):45-53.
2004: Paul N Baird; Andrea J Richardson; Jamie E Craig; David A Mackey; Elena Rochtchina; Paul Mitchell
Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study.
Clinical & experimental ophthalmology 2004;32(5):518-22.
2004: Benjamin J Connell; Robin M Wilkinson; Julie M Barbour; Lindsey W Scotter; Johan L Poulsen; M Gabriela Wirth; Rohan W Essex; Ravi Savarirayan; David A Mackey
Are Duane syndrome and infantile esotropia allelic?
Ophthalmic genetics 2004;25(3):189-98.
2004: Kathryn P Burdon; M Gabriela Wirth; David A Mackey; Isabelle Russell-Eggitt; Jamie E Craig; James E Elder; Joanne L Dickinson; Michèle M Sale
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
Journal of medical genetics 2004;41(8):e106.
2004: Danielle L Healey; Jamie E Craig; Colleen H Wilkinson; Edwin M Stone; David A Mackey
Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family.
Journal of glaucoma 2004;13(4):304-11.
2004: Carmel Toomes; Helen M Bottomley; Sheila Scott; David A Mackey; Jamie E Craig; Binoy Appukuttan; J Timothy Stout; Christina J Flaxel; Kang Zhang; Graeme C M Black; Alan Fryer; Louise M Downey; Chris F Inglehearn
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science 2004;45(7):2083-90.
2004: Carmel Toomes; Helen M Bottomley; Richard M Jackson; Katherine V Towns; Sheila Scott; David A Mackey; Jamie E Craig; Li Jiang; Zhenglin Yang; Richard C Trembath; Geoffrey Woodruff; Cheryl Y Gregory-Evans; Kevin Gregory-Evans; Michael J Parker; Graeme C M Black; Louise M Downey; Kang Zhang; Chris F Inglehearn
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
American journal of human genetics 2004;74(4):721-30.
2004: Jane R MacKinnon; Antonio Giubilato; James E Elder; Jamie E Craig; David A Mackey
Primary infantile glaucoma in an Australian population.
Clinical & experimental ophthalmology 2004;32(1):14-8.
2004: Kathryn P Burdon; M Gabriela Wirth; David A Mackey; Isabelle Russell-Eggitt; Jamie E Craig; James E Elder; Joanne L Dickinson; Michèle M Sale
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.
The British journal of ophthalmology 2004;88(1):79-83.
2003: Kathryn P Burdon; Robin M Wilkinson; Julie M Barbour; Joanne L Dickinson; Jim Stankovich; David A Mackey; Michèle M Sale
Investigation of albinism genes in congenital esotropia.
Molecular vision 2003;9():710-4.
2003: David A Mackey; Jamie E Craig
Predictive DNA testing for glaucoma: reality in 2003.
Ophthalmology clinics of North America 2003;16(4):639-45.
2003: Jamie E Craig; J Benedict Clark; Janet L McLeod; Mark A Kirkland; Glenys Grant; James E Elder; Michael G Toohey; Lionel Kowal; Helen F Savoia; Celia Chen; Sarah Roberts; M Gabriela Wirth; David A Mackey
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.
Archives of ophthalmology 2003;121(12):1753-61.
2003: Wallace L M Alward; Young H Kwon; Kazuhide Kawase; Jamie E Craig; Sohan Singh Hayreh; A Tim Johnson; Cheryl L Khanna; Tetsuya Yamamoto; David A Mackey; Benjamin R Roos; Louisa M Affatigato; Val C Sheffield; Edwin M Stone
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
American journal of ophthalmology 2003;136(5):904-10.
2003: Kathryn P Burdon; James D McKay; Michèle M Sale; Isabelle Russell-Eggitt; David A Mackey; M Gabriela Wirth; James E Elder; Alan Nicoll; Michael P Clarke; Liesel M FitzGerald; Jim Stankovich; Marie A Shaw; Shiwani Sharma; Srecko Gajovic; Peter Gruss; Shelley Ross; Paul Thomas; Anne K Voss; Tim Thomas; Jozef Gécz; Jamie E Craig
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
American journal of human genetics 2003;73(5):1120-30.
2003: David A Mackey; Danielle L Healey; John H Fingert; Michael A Coote; Tiffany L Wong; Colleen H Wilkinson; Paul J McCartney; Julian L Rait; A Pauline de Graaf; Edwin M Stone; Jamie E Craig
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.
Archives of ophthalmology 2003;121(8):1172-80.
2003: Colleen H Wilkinson; David van der Straaten; Jamie E Craig; Michael A Coote; Paul J McCartney; Jim Stankovich; Edwin M Stone; David A Mackey
Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers.
Journal of glaucoma 2003;12(3):237-42.
2003: David A Mackey
Overview. Predictive DNA testing in ophthalmology.
The British journal of ophthalmology 2003;87(5):637-8.
2003: W T Ng; Michael G Toohey; L Mulhall; David A Mackey
Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment.
The British journal of ophthalmology 2003;87(4):500-1.
2003: Paul N Baird; Jamie E Craig; Andrea J Richardson; Maree A Ring; Pamela Sim; Sue Stanwix; Simon J Foote; David A Mackey
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.
Human genetics 2003;112(2):110-6.
2002: James C Vickers; Jamie E Craig; Jim Stankovich; Graeme H McCormack; Adrian K West; Joanne L Dickinson; Paul J McCartney; Michael A Coote; Danielle L Healey; David A Mackey
The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma.
Molecular vision 2002;8():389-93.
2002: 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
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
Human mutation 2002;20(4):322.
2002: Catherine M Wheatley; Joanne L Dickinson; David A Mackey; Jamie E Craig; Michèle M Sale
Retinopathy of prematurity: recent advances in our understanding.
Archives of disease in childhood. Fetal and neonatal edition 2002;87(2):F78-82.
2002: Nicola J Marchbank; Jamie E Craig; Jack P Leek; Michael G Toohey; Amanda J Churchill; Alexander F Markham; David A Mackey; Carmel Toomes; Chris F Inglehearn
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
Journal of medical genetics 2002;39(8):e47.
2002: M Gabriela Wirth; Isabelle Russell-Eggitt; Jamie E Craig; James E Elder; David A Mackey
Aetiology of congenital and paediatric cataract in an Australian population.
The British journal of ophthalmology 2002;86(7):782-6.
2002: Catherine M Wheatley; Joanne L Dickinson; David A Mackey; Jamie E Craig; Michèle M Sale
Retinopathy of prematurity: recent advances in our understanding.
The British journal of ophthalmology 2002;86(6):696-700.
2002: Jan Fullerton; Patricia Paprocki; Simon Foote; David A Mackey; Robert Williamson; Susan Forrest
Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.
Human genetics 2002;110(5):462-70.
2002: T Jeffrey Keen; Matthew M Hims; Arthur B McKie; Anthony T Moore; Rob M Doran; David A Mackey; David C Mansfield; Robert F Mueller; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
European journal of human genetics : EJHG 2002;10(4):245-9.
2002: Isabel M McLean; Elisabeth Mueller; Robert G Buttery; David A Mackey
Visual field assessment and the Austroads driving standard.
Clinical & experimental ophthalmology 2002;30(1):3-7.
2001: Anne E Mitchell; James E Elder; David A Mackey; Keith D Waters; David M Ashley
Visual improvement despite radiologically stable disease after treatment with carboplatin in children with progressive low-grade optic/thalamic gliomas.
Journal of pediatric hematology/oncology 2001;23(9):572-7.
2001: Jamie E Craig; Paul N Baird; Danielle L Healey; Andrew McNaught; Paul J McCartney; Julian L Rait; Joanne L Dickinson; L Roe; John H Fingert; Edwin M Stone; David A Mackey
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.
Ophthalmology 2001;108(9):1607-20.
2001: Arthur B McKie; John McHale; T Jeffrey Keen; Emma E Tarttelin; R Goliath; Janneke J C van Lith-Verhoeven; Jacquie Greenberg; Rajkumar Ramesar; Carel B Hoyng; Frans P M Cremers; David A Mackey; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Human molecular genetics 2001;10(15):1555-62.
2001: Carmel Toomes; Nicola J Marchbank; David A Mackey; Jamie E Craig; R A Newbury-Ecob; C P Bennett; C J Vize; S P Desai; Graeme C M Black; N Patel; M Teimory; Alexander F Markham; Chris F Inglehearn; Amanda J Churchill
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Human molecular genetics 2001;10(13):1369-78.
2001: P N Baird; J Dickinson; Jamie E Craig; David A Mackey
The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma.
American journal of ophthalmology 2001;131(4):510-1.
2001: Joanne L Dickinson; Michèle M Sale; Jamie E Craig; David A Mackey
Laboratory methods in ophthalmic genetics: obtaining DNA from patients.
Ophthalmic genetics 2001;22(1):49-60.
2001: Darryl Y Nishimura; Charles C Searby; Wallace L M Alward; D Walton; Jamie E Craig; David A Mackey; Kazuhide Kawase; AB Kanis; Shivanand R Patil; Edwin M Stone; Val C Sheffield
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
American journal of human genetics 2001;68(2):364-72.
2001: John H Fingert; Abbot F Clark; Jamie E Craig; Wallace L M Alward; G R Snibson; M McLaughlin; L Tuttle; David A Mackey; Val C Sheffield; Edwin M Stone
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Investigative ophthalmology & visual science 2001;42(1):145-52.
2000: Andrew McNaught; J G Allen; Danielle L Healey; Paul J McCartney; Michael A Coote; T L Wong; Jamie E Craig; Catherine M Green; Julian L Rait; David A Mackey
Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania.
Archives of ophthalmology 2000;118(7):900-4.
1999: R M Simm; John H Fingert; Jamie E Craig; Andrew McNaught; David A Mackey
Normal range of hearing associated with myocilin Thr377Met.
Ophthalmic genetics 1999;20(3):205-7.
1999: Edwin M Stone; Andrew J Lotery; Francis L Munier; Elise Héon; B Piguet; Robyn H Guymer; K Vandenburgh; Pascal Cousin; Darryl Nishimura; Ruth E Swiderski; G Silvestri; David A Mackey; Gregory S Hageman; A C Bird; Val C Sheffield; Daniel F Schorderet
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Nature genetics 1999;22(2):199-202.
1999: John H Fingert; Elise Héon; J M Liebmann; T Yamamoto; Jamie E Craig; Julian L Rait; Kazuhide Kawase; S T Hoh; Yvonne M Buys; J Dickinson; RR Hockey; Donna Williams-Lyn; Graham E Trope; Y Kitazawa; Robert Ritch; David A Mackey; Wallace L M Alward; Val C Sheffield; Edwin M Stone
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Human molecular genetics 1999;8(5):899-905.
1998: Susan M Carden; Deborah Colville; A J Davidson; I M McKenzie; David A Mackey; J McKenzie; James E Elder
Adjunctive intra-operative local anaesthesia in paediatric strabismus surgery: a randomized controlled trial.
Australian and New Zealand journal of ophthalmology 1998;26(4):289-97.
1998: Wallace L M Alward; John H Fingert; Michael A Coote; A Tim Johnson; S F Lerner; D Junqua; F J Durcan; P J McCartney; David A Mackey; Val C Sheffield; Edwin M Stone
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
The New England journal of medicine 1998;338(15):1022-7.
1997: Edwin M Stone; John H Fingert; Wallace L M Alward; T D Nguyen; J R Polansky; S L Sunden; Darryl Nishimura; Abbot F Clark; AM Nystuen; BE Nichols; David A Mackey; Robert Ritch; JW Kalenak; E R Craven; Val C Sheffield
Identification of a gene that causes primary open angle glaucoma.
Science (New York, N.Y.) 1997;275(5300):668-70.