Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellstrom U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andreasson S, Rivolta C

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Am J Hum Genet 99:770-776 (2016)
DOI:10.1016/j.ajhg.2016.07.009

Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Am J Hum Genet 99:777-784 (2016)
DOI:10.1016/j.ajhg.2016.07.010

Fuster-Garcia C, Garcia-Garcia G, Jaijo T, Fornes N, Ayuso C, Fernandez-Burriel M, Sanchez-De la Morena A, Aller E, Millan JM

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Sci Rep 8:17113 (2018)
DOI:10.1038/s41598-018-35085-0