Tüysüz, Beyhan

Top Publications

Top Publications Authored or Co-Authored by "Tüysüz, Beyhan"

• The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

  Nature Genetics, Volume 26, No. 3, Year 2000, Citations 391
• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Nature Genetics, Volume 43, No. 1, Year 2011, Citations 233
• Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

  Human Mutation, Volume 33, No. 8, Year 2012, Citations 46
• Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy

  American Journal of Human Genetics, Volume 93, No. 5, Year 2013, Citations 34
• Genome sequencing in families with congenital limb malformations

  Human Genetics, Volume 140, No. 8, Year 2021, Citations 32