Author
University of BaselORCID 0000-0002-4720-5527Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·Isabelle Perrault
The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.
Andrea Gottinger, Marco Malatesta, Callum R. Nicoll…·Andrea Mattevi
This study identifies COQ8 as a chaperone that facilitates coenzyme Q biosynthesis by ATP-driven structural gating of intermediates.
Mustafa Ozen, Francesca Zappa, Karolina Kamińska…·Diego Acosta‐Alvear
The paper develops a theoretical model of the ISR using time-resolved proteomics data to show molecular timers and a translational cliff limit ISR activation.
Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar…·Carlo Rivolta
RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.
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.
Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel…·Isabelle Perrault
This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.