CEP78

Publications

Nikopoulos K et al. Mutations in CEP78 cause cone-rod dystrophy and hearing loss sssociated with primary-cilia defects. Am J Hum Genet. 2016;99(3):770-776.  PMID: 27588451.

Namburi P et al. Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss. Am J Hum Genet. 2016;99(3):777-784.  PMID: 27588452.

De Castro-MirĂ³ M et al. Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PloS One. 2016;11(12):e0168966.  PMID: 28005958.

Azimzadeh J et al. Centrosome loss in the evolution of planarians. Science. 2012;335(6067):461-3.  PMID: 22223737.

Brunk K et al. Cep78 is a new centriolar protein involved in Plk4-induced centriole overduplication. J Cell Sci. 2016;129(14):2713-8.  PMID: 27246242.

Fu Q et al. CEP78 is mutated in a distinct type of Usher syndrome. J Med Genet. 2017;54(3):190-195.  PMID: 27627988.

Hossain D et al. Cep78 controls centrosome homeostasis by inhibiting EDD-DYRK2-DDB1VprBP. EMBO Rep. 2017;18(4):632-644.  PMID: 28242748. Sanchis-Juan A et al. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. Genome Med. 2018;10(1):95.  PMID: 30526634.