| 1 | CORD7, CRSDS, RIMS1, RIMS2 |
| Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement . | |
| Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I. | |
| Am J Hum Genet. Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28 2020 | |
| 2 | CRSDS, RIMS2 |
| Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. | |
| Huang XF, Mao JY, Huang ZQ, Rao FQ, Cheng FF, Li FF, Wang QF, Jin ZB. | |
| Invest Ophthalmol Vis Sci. Jan 1;58(1):424-429. doi: 10.1167/iovs.16-20705 2017 | |