| 1 | CEP78, CORDHL |
| Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. | |
| Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström 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 FP, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C. | |
| Am J Hum Genet 99(3):770-6. doi: 10.1016/j.ajhg.2016.07.009. 2016 | |
| 2 | CEP78, CORDHL |
| Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. | |
| 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. | |
| Am J Hum Genet 99(3):777-84. doi: 10.1016/j.ajhg.2016.07.010. 2016 | |