| A novel α-synuclein missense mutation in Parkinson disease C Proukakis, CG Dudzik, T Brier, DS MacKay, JM Cooper, GL Millhauser, ... Neurology 80 (11), 1062-1064, 2013 | 562 | 2013 |
| A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya The American Journal of Human Genetics 62 (3), 526-532, 1998 | 414 | 1998 |
| Connexin46 mutations in autosomal dominant congenital cataract D Mackay, A Ionides, Z Kibar, G Rouleau, V Berry, A Moore, A Shiels, ... The American Journal of Human Genetics 64 (5), 1357-1364, 1999 | 344 | 1999 |
| NMNAT1 mutations cause Leber congenital amaurosis MJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, ... Nature genetics 44 (9), 1040-1045, 2012 | 216 | 2012 |
| Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q DS Mackay, UP Andley, A Shiels European journal of human genetics 11 (10), 784-793, 2003 | 216 | 2003 |
| Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans Z Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, ... The American Journal of Human Genetics 85 (5), 711-719, 2009 | 211 | 2009 |
| Connexin 50 mutation in a family with congenital" zonular nuclear" pulverulent cataract of Pakistani origin V Berry, D Mackay, S Khaliq, PJ Francis, A Hameed, K Anwar, ... Human genetics 105, 168-170, 1999 | 176 | 1999 |
| Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, ... The American Journal of Human Genetics 89 (1), 183-190, 2011 | 166 | 2011 |
| A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations K Fujinami, N Lois, AE Davidson, DS Mackay, CR Hogg, EM Stone, ... American journal of ophthalmology 155 (6), 1075-1088. e13, 2013 | 161 | 2013 |
| A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q DS Mackay, OB Boskovska, HLS Knopf, KJ Lampi, A Shiels The American Journal of Human Genetics 71 (5), 1216-1221, 2002 | 156 | 2002 |
| Clinical and genetic heterogeneity in autosomal dominant cataract A Ionides, P Francis, V Berry, D Mackay, S Bhattacharya, A Shiels, ... British journal of ophthalmology 83 (7), 802-808, 1999 | 132 | 1999 |
| Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 RH Henderson, DS Mackay, Z Li, P Moradi, P Sergouniotis, ... British journal of ophthalmology 95 (6), 811-817, 2011 | 128 | 2011 |
| A locus for autosomal dominant posterior polar cataract on chromosome 1p ACW Ionides, V Berry, DS Mackay, AT Moore, SS Bhattacharya, A Shiels Human molecular genetics 6 (1), 47-51, 1997 | 114 | 1997 |
| Connexin46 mutations linked to congenital cataract show loss of gap junction channel function JD Pal, X Liu, D Mackay, A Shiels, VM Berthoud, EC Beyer, L Ebihara American Journal of Physiology-Cell Physiology 279 (3), C596-C602, 2000 | 109 | 2000 |
| RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy AE Davidson, PI Sergouniotis, DS Mackay, GA Wright, NH Waseem, ... Human Mutation 34 (3), 506-514, 2013 | 103 | 2013 |
| Novel mutations in MERTK associated with childhood onset rod-cone dystrophy DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, ... Molecular vision 16, 369, 2010 | 103 | 2010 |
| Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ... Ophthalmology 121 (6), 1174-1184, 2014 | 95 | 2014 |
| Molecular mechanism underlying a Cx50-linked congenital cataract JD Pal, VM Berthoud, EC Beyer, D Mackay, A Shiels, L Ebihara American Journal of Physiology-Cell Physiology 276 (6), C1443-C1446, 1999 | 93 | 1999 |
| A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity AD Borman, LR Pearce, DS Mackay, K Nagel‐Wolfrum, AE Davidson, ... Human mutation 35 (3), 289-293, 2014 | 81 | 2014 |
| RDH12 retinopathy: novel mutations and phenotypic description DS Mackay, AD Borman, P Moradi, RH Henderson, Z Li, GA Wright, ... Molecular vision 17, 2706, 2011 | 80 | 2011 |
