All publications

ZORA Publikationsliste

Publikationen

• Delas, Flora; Koller, Samuel; Maggi, Jordi; Maspoli, Alessandro; Kurmann, Lisa; Lang, Elena; Berger, Wolfgang; Gerth-Kahlert, Christina (2025). Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders International Journal of Molecular Sciences, 26(13):6454.
• Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; et al (2025). Variants in CFAP410 cause a range of retinal and skeletal phenotypes n p j Genomic Medicine, 10(1):32.
• Foa, Nastasia; Pfau, Maximilian; Ansari, Georg; Cancian, Giuseppe; Grimaldi, Gabriela; Koller, Samuel; Berger, Wolfgang; Escher, Pascal; Janeschitz-Kriegl, Lucas; Rivolta, Carlo; Scholl, Hendrik P N; Menghini, Moreno (2025). Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype Ophthalmologica, 248(3):175-184.
• Maggi, Kevin . Investigating the Role of Norrin in Neuroretinal Development 2025, University of Zurich, Faculty of Science.
• Maggi, Jordi; Hanson, James V M; Kurmann, Lisa; Koller, Samuel; Feil, Silke; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Retinal Dystrophy Associated with Homozygous Variants in NRL Genes, 15(12):1594.
• Patel, Aara; Pauzuolyte, Valda; Ingham, Neil J; Leong, Yeh Chwan; Berger, Wolfgang; Steel, Karen P; Sowden, Jane C (2024). Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease Proceedings of the National Academy of Sciences of the United States of America, 121(49):e2322124121.
• Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Hanson, James V M; Koller, Samuel; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele Genes, 15(12):1503.
• Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Koller, Samuel; Berger, Wolfgang (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes International Journal of Molecular Sciences, 25(17):9569.
• Atac, David; Maggi, Kevin; Feil, Silke; Maggi, Jordi; Cuevas, Elisa; Sowden, Jane C; Koller, Samuel; Berger, Wolfgang (2024). Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development Cells, 13(13):1142.
• Groeneweg, Stefan; Zevenbergen, Chantal; Lima de Souza, Elaine C; van Geest, Ferdy S; Kloeckener-Gruissem, Barbara; Laczko, Endre; Camargo, Simone M R; Meima, Marcel E; Peeters, Robin P; Visser, W Edward (2024). Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8 Thyroid, 34(7):931-941.
• Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland Journal of Personalized Medicine, 14(6):648.
• Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort International Journal of Molecular Sciences, 25(6540):6540.
• Delas, Flora; Koller, Samuel; Feil, Silke; Dacheva, Ivanka; Gerth-Kahlert, Christina; Berger, Wolfgang (2023). Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract International Journal of Molecular Sciences, 24(23):16594.
• Farberov, Luba; Weissglas-Volkov, Daphna; Shapira, Guy; Zoabi, Yazeed; Schiff, Chen; Kloeckener-Gruissem, Barbara; Neidhardt, John; Shomron, Noam (2023). mRNA splicing is modulated by intronic microRNAs iScience, 26(10):107723.
• Pauzuolyte, Valda; Patel, Aara; Wawrzynski, James R; Ingham, Neil J; Leong, Yeh Chwan; Karda, Rajvinder; Bitner‐Glindzicz, Maria; Berger, Wolfgang; Waddington, Simon N; Steel, Karen P; Sowden, Jane C (2023). Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease EMBO Molecular Medicine, 15(10):e17393.
• Koller, Samuel; Beltraminelli, Tim; Maggi, Jordi; Wlodarczyk, Agnès; Feil, Silke; Baehr, Luzy; Gerth-Kahlert, Christina; Menghini, Moreno; Berger, Wolfgang (2023). Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa Genes, 14(4):934.
• Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al (2023). Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Human Genetics and Genomics Advances, 4(2):100181.
• de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; et al (2023). Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes Genetics in Medicine, 25(3):100345.
• Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland medRxiv 22283790, Cold Spring Harbor Laboratory.
• Kivrak Pfiffner, Fatma; Koller, Samuel; Ménétrey, Anika; Graf, Urs; Bähr, Luzy; Maspoli, Alessandro; Hackenberg, Annette; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2022). Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment International Journal of Molecular Sciences, 23(13):7382.

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