Alfredo Dueñas Rey

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

J. Sahel, M. Polak, N. Boddaert, 2020, American journal of human genetics.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2021, bioRxiv.