- Atac* D, Maggi* K, Feil S, Maggi J, Cuevas E, Sowden JC, Koller S, Berger W (2024) Identification and characterization of ATOH7-regulated target genes and pathways in human neuroretinal development. Cells 13:1142.
- Kraemer D, Terumalai D, Famiglietti ML, Filges I, Joset P, Koller S, Maurer F, Meier S, Nouspikel T, Sanz J, Zweier C, Abramowicz M, Berger W, Cichon S, Schaller A, Superti-Furga A, Barbié V, Rauch A (2024) SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland. J Pers Med 14:648.
- Maggi K, Atac D, Maggi J, Feil S, Koller S, Berger W (2024) Putative role of Norrin in neuroretinal differentiation revealed by bulk and scRNA sequencing of human retinal organoids. bioRxiv 2024.11.15.623746; doi: https://doi.org/10.1101/2024.11.15.623746.
- Maggi J, Feil S, Gloggnitzer J, Maggi K, Bachmann-Gagescu R, Gerth-Kahlert C, Koller S, Berger W (2024) Nanopore deep sequencing as a tool to characterize and quantify aberrant splicing caused by variants in inherited retinal dystrophy genes. Int J Mol Sci 25:9569.
- Maggi J, Feil S, Gloggnitzer J, Maggi K, Hanson JVM, Koller S, Gerth-Kahlert C, Berger W (2024) Rescue of aberrant splicing caused by a novel complex deep-intronic ABCA4 allele. Genes 15:1503.
- Maggi J, Hanson JVM, Kurmann L, Koller S, Feil S, Gerth-Kahlert C, Berger W (2024) Retinal dystrophy associated with homozygous variants in NRL. Genes 15:1594.
- Maggi J, Koller S, Feil S, Bachmann-Gagescu R, Gerth-Kahlert C, Berger W (2024) Limited added diagnostic value of whole genome sequencing in genetic testing of inherited retinal diseases in a Swiss patient cohort. Int J Mol Sci 25:6540.
- Patel A, Pauzuolyte V, Ingham NJ, Leong YC, Berger W, Steel KP, Sowden JC (2024) Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease. Proc Natl Acad Sci USA 121:e2322124121.
- Spindler J, Koller S, Graf U, Berger W, Gerth-Kahlert C, Blaser F (2024) Macular corneal dystrophy - molecular genetics as the key in treatment-refractory keratopathy. Klin Monbl Augenheilkd 241:398-401.
*equal contribution; shared last authorship
Awards and Awardees
