His primary areas of investigation include Genetics, Retinitis pigmentosa, Mutation, Macular degeneration and Missense mutation. Locus, Gene, Exon, Retinal degeneration and Gene mapping are the primary areas of interest in his Genetics study. His Retinitis pigmentosa research incorporates themes from Nonsense mutation, Dystrophy and Electroretinography.
His Mutation research is multidisciplinary, incorporating elements of PAX6, Cataracts, Retinal Cone Photoreceptor Cells and Microcephaly. His Macular degeneration research is under the purview of Ophthalmology. Anthony T. Moore has included themes like Von Hippel–Lindau disease, Frameshift mutation and Allelic heterogeneity in his Missense mutation study.
His primary scientific interests are in Genetics, Ophthalmology, Retinitis pigmentosa, Retinal and Visual acuity. His Genetics and Missense mutation, Gene, Mutation, Locus and Phenotype investigations all form part of his Genetics research activities. His Retinitis pigmentosa research incorporates elements of Retinal degeneration, Disease gene identification, Genotype and Exon.
His work carried out in the field of Retinal brings together such families of science as Retina and Disease. His studies deal with areas such as Stargardt disease and Retrospective cohort study as well as Visual acuity. Anthony T. Moore studied Electroretinography and Pathology that intersect with Retinal pigment epithelium.
His scientific interests lie mostly in Ophthalmology, Genetics, Retinal, Visual acuity and Electroretinography. His study in Missense mutation, Gene, Exome sequencing, Phenotype and Mutation is carried out as part of his Genetics studies. His research investigates the connection between Missense mutation and topics such as Retinitis pigmentosa that intersect with problems in Exon, Genotype and Compound heterozygosity.
His Retinal research focuses on Retina and how it relates to Pathology. As a member of one scientific family, he mostly works in the field of Electroretinography, focusing on ABCA4 and, on occasion, Null allele. His studies in Macular degeneration integrate themes in fields like Genome-wide association study, Allele and Age related.
His primary areas of study are Ophthalmology, Genetics, Visual acuity, Missense mutation and Retinitis pigmentosa. The study incorporates disciplines such as Genetic testing and Age of onset in addition to Ophthalmology. Genetics and Pediatrics are frequently intertwined in his study.
His research in Visual acuity intersects with topics in Stargardt disease, Fundus and Retrospective cohort study. The various areas that Anthony T. Moore examines in his Retinal Dystrophies study include Exome sequencing and Disease, Pathology. His study looks at the intersection of Disease and topics like Genetic association with Macular degeneration.
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Effect of gene therapy on visual function in Leber's congenital amaurosis.
James W B Bainbridge;Alexander J Smith;Susie S Barker;Scott Robbie.
The New England Journal of Medicine (2008)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
C Alexander;M Votruba;U.E.A Pesch;D.L Thiselton.
Nature Genetics (2000)
Clinical Features and Natural History of von Hippel-Lindau Disease
E R Maher;J R Yates;R Harries;Caroline Benjamin.
QJM: An International Journal of Medicine (1990)
Complement C3 Variant and the Risk of Age-Related Macular Degeneration
John R.W. Yates;Tiina Sepp;Baljinder K. Matharu;Jane C. Khan.
The New England Journal of Medicine (2007)
Seven new loci associated with age-related macular degeneration
Lars G. Fritsche;Lars G. Fritsche;Wei Chen;Wei Chen;Matthew Schu;Brian L. Yaspan.
Nature Genetics (2013)
Von Hippel-Lindau disease.
E. R. Maher;A. T. Moore.
British Journal of Ophthalmology (1992)
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche;Wilmar Igl;Jessica N.Cooke Bailey;Felix Grassmann.
Nature Genetics (2016)
Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis
James W B Bainbridge;James W B Bainbridge;Manjit S Mehat;Venki Sundaram;Scott J Robbie.
The New England Journal of Medicine (2015)
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
Alan Shiels;Donna Mackay;Alexander Ionides;Vanita Berry.
American Journal of Human Genetics (1998)
A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)
Eranga N. Vithana;Leen Abu-Safieh;Maxine J. Allen;Alisoun Carey.
Molecular Cell (2001)
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