Author
Centro Andaluz de Biología Molecular y Medicina RegenerativaORCID 0000-0001-5603-6473Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Angela Armento, Inga Sonntag, Ana-Cristina Almansa-Garcia…·Marius Ueffing
This study shows that the CFH Y402H polymorphism increases vulnerability of iPSC-RPE cells to Hydroquinone-induced oxidative stress, suggesting genetic risk predisposition rather than soluble FH effects.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès
The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.
Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes…·Susanne Roosing
The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.
Lorena Buono, Jorge Corbacho, Silvia Naranjo…·Juan Ramón Martínez‐Morales
The paper analyzes gene network bifurcation during optic cup morphogenesis in zebrafish, identifying regulatory mechanisms and conserved TF recruitment sequences in RPE specification.