| Whole exome sequencing in coloboma/microphthalmia: identification of novel and recurrent variants in seven genes P Haug, S Koller, J Maggi, E Lang, S Feil, A Wlodarczyk, L Bähr, K Steindl, ... Genes 12 (1), 65, 2021 | 23 | 2021 |
| Long-range PCR-based NGS applications to diagnose mendelian retinal diseases J Maggi, S Koller, L Bähr, S Feil, F Kivrak Pfiffner, JVM Hanson, A Maspoli, ... International journal of molecular sciences 22 (4), 1508, 2021 | 21 | 2021 |
| cnvCapSeq: detecting copy number variation in long-range targeted resequencing data E Bellos, V Kumar, C Lin, J Maggi, ZY Phua, CY Cheng, CMG Cheung, ... Nucleic acids research 42 (20), e158-e158, 2014 | 17 | 2014 |
| Regulation of ABCA1 by AMD-associated genetic variants and hypoxia in iPSC-RPE F Peters, LJA Ebner, D Atac, J Maggi, W Berger, AI den Hollander, ... International Journal of Molecular Sciences 23 (6), 3194, 2022 | 11 | 2022 |
| De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing … J Maggi, L Roberts, S Koller, G Rebello, W Berger, R Ramesar Genes 11 (7), 800, 2020 | 11 | 2020 |
| The expression of decidual protein induced by progesterone (DEPP) is controlled by three distal consensus hypoxia responsive element (HRE) in hypoxic retinal epithelial cells K Klee, F Storti, J Maggi, V Todorova, D Karademir, W Berger, ... Genes 11 (1), 111, 2020 | 5 | 2020 |
| Absence of goniodysgenesis in patients with chromosome 13q Microdeletion-Related microcoria C Gerth-Kahlert, J Maggi, M Töteberg-Harms, A Tiwari, B Budde, ... Ophthalmology Glaucoma 1 (2), 145-147, 2018 | 5 | 2018 |
| Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa S Koller, T Beltraminelli, J Maggi, A Wlodarczyk, S Feil, L Baehr, ... Genes 14 (4), 934, 2023 | 4 | 2023 |
| Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort J Maggi, S Koller, S Feil, R Bachmann-Gagescu, C Gerth-Kahlert, ... International Journal of Molecular Sciences 25 (12), 6540, 2024 | 3 | 2024 |
| Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes J Maggi, S Feil, J Gloggnitzer, K Maggi, R Bachmann-Gagescu, ... International Journal of Molecular Sciences 25 (17), 2024 | 2 | 2024 |
| Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development D Atac, K Maggi, S Feil, J Maggi, E Cuevas, JC Sowden, S Koller, ... Cells 13 (13), 1142, 2024 | 2 | 2024 |
| Putative Role of Norrin in Neuroretinal Differentiation Revealed by bulk and scRNA Sequencing of Human Retinal Organoids K Maggi, D Atac, J Maggi, S Feil, S Koller, W Berger Biorxiv, 2024.11. 15.623746, 2024 | 1 | 2024 |
| Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele J Maggi, S Feil, J Gloggnitzer, K Maggi, JVM Hanson, S Koller, ... Genes 15 (12), 1503, 2024 | | 2024 |
| The Genetic Basis of Eye Diseases: Identification and Functional Characterization of Genes and Mutations J Maggi University of Zurich, 2021 | | 2021 |
