PubMed

Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins.

Mackey DA, Mackinnon JR, Brown SA, Kearns LS, Ruddle JB, Sanfilippo PG, Sun C, Hammond CJ, Young TL, Martin NG, Hewitt AW.

Twin Res Hum Genet. 2009 Oct;12(5):441-54.PMID: 19803772 [PubMed - in process]Related articles

Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype.

Sherwin JC, Hewitt AW, Bennett SL, Baird PN, Craig JE, Mackey DA.

Clin Experiment Ophthalmol. 2009 Mar;37(2):201-7. Epub 2009 Feb 3.PMID: 19723129 [PubMed - indexed for MEDLINE]Related articles

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY, Savarirayan R, Mackey DA, Healey PR, Mitchell P, Burdon KP, Craig JE.

Hum Genet. 2009 Aug 28. [Epub ahead of print]PMID: 19714363 [PubMed - as supplied by publisher]Related articles

Isolated corneal opacification and microphthalmia: a suspected warfarin embryopathy.

Downie AC, Mackey DA, Vote BJ.

Clin Experiment Ophthalmol. 2009 Aug;37(6):624-5. No abstract available. PMID: 19702715 [PubMed - indexed for MEDLINE]Related articles

Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study.

Sun C, Zhu G, Wong TY, Hewitt AW, Ruddle JB, Hodgson L, Montgomery GW, Young TL, Hammond CJ, Craig JE, Martin NG, He M, Mackey DA.

Hypertension. 2009 Oct;54(4):788-95. Epub 2009 Aug 17.PMID: 19687348 [PubMed - indexed for MEDLINE]Related articles

The 'I' in personalized genetics: 2008 Ian Constable lecture.

Mackey DA.

Clin Experiment Ophthalmol. 2009 Jul;37(5):434-43.PMID: 19624338 [PubMed - indexed for MEDLINE]Related articles

Quality of DNA extracted from mouthwashes.

Zayats T, Young TL, Mackey DA, Malecaze F, Calvas P, Guggenheim JA.

PLoS One. 2009 Jul 7;4(7):e6165.PMID: 19582144 [PubMed - indexed for MEDLINE]Related articlesFree article

Optic disc morphology--rethinking shape.

Sanfilippo PG, Cardini A, Hewitt AW, Crowston JG, Mackey DA.

Prog Retin Eye Res. 2009 Jul;28(4):227-48. Epub 2009 Jun 10. Review.PMID: 19520180 [PubMed - indexed for MEDLINE]Related articles

The optic nerve head in hereditary optic neuropathies.

O'Neill EC, Mackey DA, Connell PP, Hewitt AW, Danesh-Meyer HV, Crowston JG.

Nat Rev Neurol. 2009 May;5(5):277-87. Review.PMID: 19488085 [PubMed - indexed for MEDLINE]Related articles

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.

Br J Ophthalmol. 2009 Sep;93(9):1151-4. Epub 2009 May 7.PMID: 19429592 [PubMed - indexed for MEDLINE]Related articles

Heritability of central corneal thickness in nuclear families.

Landers JA, Hewitt AW, Dimasi DP, Charlesworth JC, Straga T, Mills RA, Savarirayan R, Mackey DA, Burdon KP, Craig JE.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4087-90. Epub 2009 May 6.PMID: 19420341 [PubMed - indexed for MEDLINE]Related articles

Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies.

Carbonaro F, Andrew T, Mackey DA, Young TL, Spector TD, Hammond CJ.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5115-9. Epub 2009 May 6.PMID: 19420339 [PubMed - in process]Related articles

Null mutations in LTBP2 cause primary congenital glaucoma.

Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):664-71. Epub 2009 Apr 9.PMID: 19361779 [PubMed - indexed for MEDLINE]Related articlesFree article

An international collaborative family-based whole-genome linkage scan for high-grade myopia.

Li YJ, Guggenheim JA, Bulusu A, Metlapally R, Abbott D, Malecaze F, Calvas P, Rosenberg T, Paget S, Creer RC, Kirov G, Owen MJ, Zhao B, White T, Mackey DA, Young TL.

Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3116-27. Epub 2009 Mar 25.PMID: 19324860 [PubMed - indexed for MEDLINE]Related articles

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X.

Hum Mutat. 2009 May;30(5):E603-11.PMID: 19306328 [PubMed - indexed for MEDLINE]Related articles

Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'

Hewitt AW, Sanfilippo P, Ring MA, Craig JE, Mackey DA.

Eye (Lond). 2009 Feb 27. [Epub ahead of print]PMID: 19247389 [PubMed - as supplied by publisher]Related articles

Retinal vascular caliber: systemic, environmental, and genetic associations.

Sun C, Wang JJ, Mackey DA, Wong TY.

Surv Ophthalmol. 2009 Jan-Feb;54(1):74-95. Review.PMID: 19171211 [PubMed - indexed for MEDLINE]Related articles

Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania.

Sun C, Ponsonby AL, Wong TY, Brown SA, Kearns LS, Cochrane J, MacKinnon JR, Ruddle JB, Hewitt AW, Liew G, Dwyer T, Scurrah K, Mackey DA.

Hypertension. 2009 Mar;53(3):487-93. Epub 2009 Jan 12.PMID: 19139377 [PubMed - indexed for MEDLINE]Related articles

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Ivings L, Towns KV, Matin MA, Taylor C, Ponchel F, Grainger RJ, Ramesar RS, Mackey DA, Inglehearn CF.

Mol Vis. 2008;14:2357-66. Epub 2008 Dec 18.PMID: 19096719 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic isolates in ophthalmic diseases.

Sherwin JC, Hewitt AW, Ruddle JB, Mackey DA.

Ophthalmic Genet. 2008 Dec;29(4):149-61. Review.PMID: 19005985 [PubMed - indexed for MEDLINE]Related articles

Gillies lecture: dissecting glaucoma: understanding the molecular risk factors.

Mackey DA.

Clin Experiment Ophthalmol. 2008 Jul;36(5):403-9.PMID: 18925913 [PubMed - indexed for MEDLINE]Related articles

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.

Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE.

Mol Vis. 2008;14:1799-804. Epub 2008 Sep 30.PMID: 18843385 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease.

FitzGerald LM, Patterson B, Thomson R, Polanowski A, Quinn S, Brohede J, Thornton T, Challis D, Mackey DA, Dwyer T, Foote S, Hannan GN, Stankovich J, McKay JD, Dickinson JL.

Eur J Hum Genet. 2009 Mar;17(3):368-77. Epub 2008 Oct 1.PMID: 18830231 [PubMed - indexed for MEDLINE]Related articles

Genetic influences on handedness: data from 25,732 Australian and Dutch twin families.

Medland SE, Duffy DL, Wright MJ, Geffen GM, Hay DA, Levy F, van-Beijsterveldt CE, Willemsen G, Townsend GC, White V, Hewitt AW, Mackey DA, Bailey JM, Slutske WS, Nyholt DR, Treloar SA, Martin NG, Boomsma DI.

Neuropsychologia. 2009 Jan;47(2):330-7. Epub 2008 Sep 9.PMID: 18824185 [PubMed - indexed for MEDLINE]Related articles

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome.

Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, Mackey DA, Mitchell P, Craig JE.

Mol Vis. 2008 Sep 22;14:1727-36.PMID: 18806885 [PubMed - indexed for MEDLINE]Related articlesFree article

Heritability of intraocular pressure: a classical twin study.

Carbonaro F, Andrew T, Mackey DA, Spector TD, Hammond CJ.

Br J Ophthalmol. 2008 Aug;92(8):1125-8.PMID: 18653607 [PubMed - indexed for MEDLINE]Related articles

The natural history of OPA1-related autosomal dominant optic atrophy.

Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, Craig JE, Mackey DA.

Br J Ophthalmol. 2008 Oct;92(10):1333-6. Epub 2008 Jul 24.PMID: 18653586 [PubMed - indexed for MEDLINE]Related articles

The heritability of corneal hysteresis and ocular pulse amplitude: a twin study.

Carbonaro F, Andrew T, Mackey DA, Spector TD, Hammond CJ.

Ophthalmology. 2008 Sep;115(9):1545-9. Epub 2008 Apr 24.PMID: 18439682 [PubMed - indexed for MEDLINE]Related articles

A novel locus for X-linked congenital cataract on Xq24.

Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA, Burdon KP.

Mol Vis. 2008 Apr 18;14:721-6.PMID: 18431456 [PubMed - indexed for MEDLINE]Related articlesFree article

Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study.

He M, Ge J, Wang D, Zhang J, Hewitt AW, Hur YM, Mackey DA, Foster PJ.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1356-61.PMID: 18385050 [PubMed - indexed for MEDLINE]Related articlesFree article

How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania.

Green CM, Kearns LS, Wu J, Barbour JM, Wilkinson RM, Ring MA, Craig JE, Wong TL, Hewitt AW, Mackey DA.

Clin Experiment Ophthalmol. 2007 Dec;35(9):793-9.PMID: 18173405 [PubMed - indexed for MEDLINE]Related articles

Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study.

He M, Wang D, Zheng Y, Zhang J, Yin Q, Huang W, Mackey DA, Foster PJ.

Invest Ophthalmol Vis Sci. 2008 Jan;49(1):81-6.PMID: 18172078 [PubMed - indexed for MEDLINE]Related articlesFree article

The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the Twins Eye Study in Tasmania.

Ponsonby AL, Brown SA, Kearns LS, MacKinnon JR, Scotter LW, Cochrane JA, Mackey DA.

Ophthalmic Epidemiol. 2007 Nov-Dec;14(6):351-9.PMID: 18161608 [PubMed - indexed for MEDLINE]Related articles

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.

Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE.

Hum Mol Genet. 2008 Mar 1;17(5):710-6. Epub 2007 Nov 23.PMID: 18037624 [PubMed - indexed for MEDLINE]Related articlesFree article

Central corneal thickness and glaucoma in the Australian Aboriginal population.

Mackey DA.

Clin Experiment Ophthalmol. 2007 Nov;35(8):691-2. No abstract available. PMID: 17997768 [PubMed - indexed for MEDLINE]Related articles

Myocilin allele-specific glaucoma phenotype database.

Hewitt AW, Mackey DA, Craig JE.

Hum Mutat. 2008 Feb;29(2):207-11.PMID: 17966125 [PubMed - indexed for MEDLINE]Related articles

Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q.

Zhu G, Hewitt AW, Ruddle JB, Kearns LS, Brown SA, Mackinnon JR, Chen CY, Hammond CJ, Craig JE, Montgomery GW, Martin NG, Mackey DA.

Ophthalmology. 2008 Jun;115(6):1053-1057.e2. Epub 2007 Oct 26.PMID: 17964656 [PubMed - indexed for MEDLINE]Related articles

PAX6 mutations may be associated with high myopia.

Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA.

Ophthalmic Genet. 2007 Sep;28(3):179-82.PMID: 17896318 [PubMed - indexed for MEDLINE]Related articles

Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma.

Balaratnasingam C, Morgan WH, Nelson J, Mackey DA, Dimasi DP, Lam G.

Ophthalmic Genet. 2007 Sep;28(3):157-62.PMID: 17896314 [PubMed - indexed for MEDLINE]Related articles

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.

Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, Elder JE, Casey T, Mackey DA, Craig JE.

Clin Genet. 2007 Sep;72(3):255-60.PMID: 17718864 [PubMed - indexed for MEDLINE]Related articles

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE.

Hum Mutat. 2007 Jul;28(7):742.PMID: 17579362 [PubMed - indexed for MEDLINE]Related articles

Heritable features of the optic disc: a novel twin method for determining genetic significance.

Hewitt AW, Poulsen JP, Alward WL, Bennett SL, Budde WM, Cooper RL, Craig JE, Fingert JH, Foster PJ, Garway-Heath DF, Green CM, Hammond CJ, Hayreh SS, Jonas JB, Kaufman PL, Miller NR, Morgan WH, Newman NJ, Quigley HA, Samples JR, Spaeth GL, Pesudovs K, Mackey DA.

Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2469-75.PMID: 17525172 [PubMed - indexed for MEDLINE]Related articlesFree article

No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma.

Symons RC, Turakulov R, Foote SJ, Craig JE, McCartney PJ, Mackey DA.

Ophthalmic Genet. 2007 Mar;28(1):39-41. No abstract available. PMID: 17454746 [PubMed - indexed for MEDLINE]Related articles

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.

Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK.

Mol Vis. 2007 Mar 28;13:487-92.PMID: 17417609 [PubMed - indexed for MEDLINE]Related articlesFree article

No association between variations in the WDR36 gene and primary open-angle glaucoma.

Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM.

Arch Ophthalmol. 2007 Mar;125(3):434-6. No abstract available. PMID: 17353431 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA.

Am J Ophthalmol. 2007 Apr;143(4):656-62. Epub 2007 Feb 15.PMID: 17306754 [PubMed - indexed for MEDLINE]Related articles

Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees.

Bennett SL, Hewitt AW, Poulsen JL, Kearns LS, Morgan JE, Craig JE, Mackey DA.

Arch Ophthalmol. 2007 Jan;125(1):112-6.PMID: 17210861 [PubMed - indexed for MEDLINE]Related articlesFree article

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

Hewitt AW, Bennett SL, Richards JE, Dimasi DP, Booth AP, Inglehearn C, Anwar R, Yamamoto T, Fingert JH, Héon E, Craig JE, Mackey DA.

Arch Ophthalmol. 2007 Jan;125(1):98-104.PMID: 17210859 [PubMed - indexed for MEDLINE]Related articlesFree article

The optic nerve head in myocilin glaucoma.

Hewitt AW, Bennett SL, Fingert JH, Cooper RL, Stone EM, Craig JE, Mackey DA.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):238-43.PMID: 17197538 [PubMed - indexed for MEDLINE]Related articlesFree article

Training peer reviewers.

Mackey DA.

Nature. 2006 Oct 19;443(7113):880. No abstract available. PMID: 17106961 [PubMed - indexed for MEDLINE]Related articles