David A Mackey

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Alex HewittUniversity of TasmaniaVerified email at utas.edu.au
Kathryn BurdonMenzies Institute for Medical Research, University of TasmaniaVerified email at utas.edu.au
Stuart MacGregorProfessor, Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, AustraliaVerified email at qimr.edu.au
Seyhan YazarGarvan Institute of Medical ResearchVerified email at garvan.org.au
Paul SanfilippoBiostatistician and Data AnalystVerified email at pgrad.unimelb.edu.au
Terri L YoungUniversity of WisconsinVerified email at wisc.edu
Fred K ChenThe University of Western AustraliaVerified email at lei.org.au
Nick MartinQIMR Berghofer Medical Research InstituteVerified email at qimrberghofer.edu.au
Emmanuelle SouzeauVerified email at flinders.edu.au
Edwin M. StoneUniversity of Iowa, Carver College of Medicine, Department of Ophthalmology and Visual SciencesVerified email at uiowa.edu
John FingertProfessor of Ophthalmology, Carver College of Medicine, University of IowaVerified email at uiowa.edu
Justin SherwinRoyal Victorian Eye and Ear Hospital MelbourneVerified email at eyeandear.org.au
sandra staffiericentre for eye research australiaVerified email at unimelb.edu.au
Chris InglehearnProfessor of Molecular Ophthalmology, University of LeedsVerified email at leeds.ac.uk
Pirro HysiLondon, UKVerified email at ucl.ac.uk
Val C. Sheffield, M.D., Ph.D.Investigator, Howard Hughes Medical Institute, Professor of Pediatrics, University of IowaVerified email at uiowa.edu
Wallace AlwardProfessor of Ophthalmology, University of Iowa Carver College of MedicineVerified email at uiowa.edu
Tim D SpectorGuys and St Thomas Hospital NHS Trust, Kings College LondonVerified email at kcl.ac.uk
Grant MontgomeryProfessorial Research Fellow, Institute for Molecular Bioscience, The University of QueenslandVerified email at uq.edu.au
Jeremy GuggenheimCardiff UniversityVerified email at cardiff.ac.uk

David A Mackey

Professor of Ophthalmology, University of Western Australia

Verified email at lei.org.au

Genetics of Eye Disease


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
Identification of a gene that causes primary open angle glaucoma EM Stone, JH Fingert, WLM Alward, TD Nguyen, JR Polansky, ... Science 275 (5300), 668-670, 1997	1815	1997
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ... Nature genetics 48 (2), 134-143, 2016	1541	2016
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations JH Fingert, E Héon, JM Liebmann, T Yamamoto, JE Craig, J Rait, ... Human molecular genetics 8 (5), 899-905, 1999	713	1999
Rare and low-frequency coding variants alter human adult height E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ... Nature 542 (7640), 186-190, 2017	678	2017
The association between time spent outdoors and myopia in children and adolescents: a systematic review and meta-analysis JC Sherwin, MH Reacher, RH Keogh, AP Khawaja, DA Mackey, PJ Foster Ophthalmology 119 (10), 2141-2151, 2012	671	2012
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ... Cell 140 (1), 74-87, 2010	644	2010
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) WLM Alward, JH Fingert, MA Coote, AT Johnson, SF Lerner, D Junqua, ... New England Journal of Medicine 338 (15), 1022-1027, 1998	561	1998
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia VJM Verhoeven, PG Hysi, R Wojciechowski, Q Fan, JA Guggenheim, ... Nature genetics 45 (3), 314-318, 2013	548	2013
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ... Nature genetics 22 (2), 199-202, 1999	544	1999
A saturated map of common genetic variants associated with human height L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell, S Sakaue, ... Nature 610 (7933), 704-712, 2022	489	2022
Retinal vascular caliber: systemic, environmental, and genetic associations C Sun, JJ Wang, DA Mackey, TY Wong Survey of ophthalmology 54 (1), 74-95, 2009	480	2009
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. N Howell, LA Bindoff, DA McCullough, I Kubacka, J Poulton, D Mackey, ... American journal of human genetics 49 (5), 939, 1991	480	1991
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 KP Burdon, S Macgregor, AW Hewitt, S Sharma, G Chidlow, RA Mills, ... Nature genetics 43 (6), 574-578, 2011	479	2011
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma G Thorleifsson, GB Walters, AW Hewitt, G Masson, A Helgason, A DeWan, ... Nature genetics 42 (10), 906-909, 2010	467	2010
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. DA Mackey, RJ Oostra, T Rosenberg, E Nikoskelainen, J Bronte-Stewart, ... American journal of human genetics 59 (2), 481, 1996	437	1996
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, ... The American Journal of Human Genetics 74 (4), 721-730, 2004	426	2004
Null mutations in LTBP2 cause primary congenital glaucoma M Ali, M McKibbin, A Booth, DA Parry, P Jain, SA Riazuddin, ... The American Journal of Human Genetics 84 (5), 664-671, 2009	361	2009
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya, A Mirshahi, ... Nature genetics 45 (2), 155-163, 2013	360	2013
Genetic influences on handedness: data from 25,732 Australian and Dutch twin families SE Medland, DL Duffy, MJ Wright, GM Geffen, DA Hay, F Levy, ... Neuropsychologia 47 (2), 330-337, 2009	352	2009
Retinopathy of prematurity: recent advances in our understanding CM Wheatley, JL Dickinson, DA Mackey, JE Craig, MM Sale British Journal of Ophthalmology 86 (6), 696-700, 2002	348	2002

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