Jackson, Ian James

Top Publications

Top Publications Authored or Co-Authored by "Jackson, Ian James"

• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Human Mutation, Volume 34, No. 5, Year 2013, Citations 116
• Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice

  PLoS Genetics, Volume 7, No. 7, Article e1002114, Year 2011, Citations 83
• Loss of aldh18a1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3a and warburg micro syndrome

  Molecular Genetics and Genomic Medicine, Volume 2, No. 4, Year 2014, Citations 20
• Molecular cloning and sequence analysis of a chicken cDNA encoding tyrosinase-related protein-2/DOPAchrome tautomerase

  Gene, Volume 219, No. 1-2, Year 1998, Citations 14
• The cloning and sequencing of a cDNA coding for chick tyrosinase- related protein-1

  Biochimica et Biophysica Acta - Gene Structure and Expression, Volume 1395, No. 1, Year 1998, Citations 12