1. Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.

Arzalluz-Luque Á, Cabrera JL, Skottman H, Benguria A, Bolinches-Amorós A, Cuenca N, Lupo V, Dopazo A, Tarazona S, Delás B, Carballo M, Pascual B, Hernan I, Erceg S, Lukovic D.Front Neurosci. 2021 Apr 29;15:636969. doi: 10.3389/fnins.2021.636969. eCollection 2021.PMID: 33994920 

2. Phenotypic Differences in a PRPH2Mutation in Members of the Same Family Assessed with OCT and OCTA.

Albertos-Arranz H, Sánchez-Sáez X, Martínez-Gil N, Pinilla I, Coco-Martin RM, Delgado J, Cuenca N.Diagnostics (Basel). 2021 Apr 26;11(5):777. doi: 10.3390/diagnostics11050777.PMID: 33925984

3. Retinitis pigmentosa is associated with shifts in the gut microbiome.

Kutsyr O, Maestre-Carballa L, Lluesma-Gomez M, Martinez-Garcia M, Cuenca N, Lax P.Sci Rep. 2021 Mar 23;11(1):6692. doi: 10.1038/s41598-021-86052-1.PMID: 33758301 

4. Dopaminergic Retinal Cell Loss and Visual Dysfunction in Parkinson Disease.

Ortuño-Lizarán I, Sánchez-Sáez X, Lax P, Serrano GE, Beach TG, Adler CH, Cuenca N.Ann Neurol. 2020 Nov;88(5):893-906. doi: 10.1002/ana.25897. Epub 2020 Sep 19.PMID: 32881029