Donna Mackay
Donna Mackay
Washington University school of medicine
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
RDH12 retinopathy: novel mutations and phenotypic description
DS Mackay, AD Borman, P Moradi, RH Henderson, Z Li, GA Wright, ...
Molecular vision 17, 2706, 2011
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