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 | 1795 | 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 | 1468 | 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 | 706 | 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 | 660 | 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 | 646 | 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 | 628 | 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 | 554 | 1998 |
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 | 540 | 1999 |
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 | 533 | 2013 |
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 | 476 | 1991 |
Retinal vascular caliber: systemic, environmental, and genetic associations C Sun, JJ Wang, DA Mackey, TY Wong Survey of ophthalmology 54 (1), 74-95, 2009 | 473 | 2009 |
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 | 469 | 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 | 459 | 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 | 434 | 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 | 420 | 2004 |
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 | 378 | 2022 |
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 | 356 | 2013 |
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 | 347 | 2009 |
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 | 346 | 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 | 342 | 2002 |