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Donna S. Mackay

Washington University in St. Louis
UCL Institute of Ophthalmology
University College London

66

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3146

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Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

2016 JAMA Ophthalmology
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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations. [34, 11, 1537-1546, 10.1002/humu.22398]

2014 Human Mutation
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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

2014 Human Genomics
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A novel gene for inherited cataract and glaucoma

2014 Investigative Ophthalmology & Visual Science
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RP1L1 variants are associated with retinitis pigmentosa and occult macular dystrophy

2013 Investigative Ophthalmology & Visual Science
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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

2013 American Journal of Ophthalmology
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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

2013 American Journal of Ophthalmology
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A novel α-synuclein missense mutation in Parkinson disease

2013 Neurology
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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

2013 Human Mutation
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RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

2013 Human Mutation
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Citations (67)