Holder, Graham E.

Top Publications

Top Publications Authored or Co-Authored by "Holder, Graham E."

• 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
• Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

  Investigative Ophthalmology and Visual Science, Volume 56, No. 13, Year 2015, Citations 42
• Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

  Brain Communications, Volume 3, No. 3, Article fcab162, Year 2021, Citations 40
• Homozygous resistance to thyroidhormone b: Can combined antithyroid drug and triiodothyroacetic acid treatment prevent cardiac failure?

  Journal of the Endocrine Society, Volume 1, No. 9, Year 2017, Citations 23