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ZORA Publication List

Publications

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.
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.
Jeltsch, Brida M; Sarraf, David; Madjdpour, Darius; Hanson, James V M; Pfiffner, Fatma K; Koller, Samuel; Berger, Wolfgang; Barthelmes, Daniel; Al-Sheikh, Mayss (2024). Rapid onset hydroxychloroquine toxicity. Retinal Cases & Brief Reports, 18(3):351-354.
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.
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.
Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B (2023). The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatric Neurology, 141:79-86.
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.
Neubauer, Jacqueline; Kissel, Christine K; Bolliger, Stephan A; Barbon, Daniela; Thali, Michael J; Kloiber, Daniel; Bode, Peter Karl; Kovacs, Boldizsar; Graf, Urs; Maspoli, Alessandro; Berger, Wolfgang; Saguner, Ardan M; Haas, Cordula (2022). Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland. Forensic Science International, 334:111240.
Peters, Florian; Ebner, Lynn J A; Atac, David; Maggi, Jordi; Berger, Wolfgang; den Hollander, Anneke I; Grimm, Christian (2022). Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE. International Journal of Molecular Sciences, 23(6):3194.
Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; Moulding, Dale A; Leong, Yeh C; Jafree, Daniyal J; Long, David A; Al-Yassin, Amina; Steel, Karen P; Jagger, Daniel J; Forge, Andrew; Berger, Wolfgang; Sowden, Jane C; Bitner-Glindzicz, Maria (2022). The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. Journal of Clinical Investigation Insight, 7(3):e148586.
Atac, David; Mohn, Lucas; Feil, Silke; Maggi, Kevin; Haenni, Dominik; Seebauer, Britta; Koller, Samuel; Berger, Wolfgang (2022). Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. International Journal of Molecular Sciences, 23(3):1053.

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In the above list, publications with fewer than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. An "et al" is created in the same step. If UZH authors are omitted as a result, they are added at the end, after "et al".
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