Oxford Gene Technology

Top Publications

Top Publications Authored or Co-Authored in "Oxford Gene Technology"

• The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

  Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 12, Year 2014, Citations 76
• Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

  European Journal of Human Genetics, Volume 22, No. 2, Year 2014, Citations 40
• PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly

  Human Mutation, Volume 37, No. 2, Year 2016, Citations 39