Webster, Andrew R.

Top Publications

Top Publications Authored or Co-Authored by "Webster, Andrew R."

• Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

  American Journal of Human Genetics, Volume 79, No. 3, Year 2006, Citations 119
• Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

  Investigative Ophthalmology and Visual Science, Volume 58, No. 7, Year 2017, Citations 100
• Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

  American Journal of Human Genetics, Volume 96, No. 6, Year 2015, Citations 45
• Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel lca5 mutations and new genotype-phenotype correlations

  Human Mutation, Volume 34, No. 11, Year 2013, Citations 37