Iro-institute for Research in Ophthalmology

Top Publications

Top Publications Authored or Co-Authored in "Iro-institute for Research in Ophthalmology"

• Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome

  American Journal of Human Genetics, Volume 88, No. 1, Year 2011, Citations 70
• Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families

  Human Mutation, Volume 35, No. 8, Year 2014, Citations 21
• Clinical and genetic findings of autosomal recessive bestrophinopathy (ARB)

  Genes, Volume 10, No. 12, Article 953, Year 2019, Citations 15
• Identifying mutations in Tunisian families with retinal dystrophy

  Scientific Reports, Volume 6, Article 37455, Year 2016, Citations 12
• Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in leber congenital amaurosis

  Klinische Monatsblatter fur Augenheilkunde, Volume 231, No. 4, Year 2014, Citations 11