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ZORA Publication List

Publications

Costa, Sarah; Medeiros-Domingo, Argelia; Gasperetti, Alessio; Akdis, Deniz; Berger, Wolfgang; James, Cynthia A; Ruschitzka, Frank; Brunckhorst, Corinna; Duru, Firat; Saguner, Ardan M (2021). Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria. Circulation: Genomic and Precision Medicine, 14(1):e003047.
Rechsteiner, Delia; Issler, Lydia S; Koller, Samuel; Lang, Elena; Bahr, Luzy; Feil, Silke; Rüegger, Christoph; Kottke, Raimund; Toelle, Sandra P; Zweifel, Noëmi; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Suter, Aude-Annick; Gogoll, Laura; Haas, Cordula; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology, 139(7):691.
Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver Andreas; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4):e594-e607.
Maggi, Jordi; Koller, Samuel; Bähr, Luzy; Feil, Silke; Kivrak-Pfiffner, Fatma; Hanson, James V M; Maspoli, Alessandro; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. International Journal of Molecular Sciences, 22(4):1508.
Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes, 12(1):E65.
Gubrich, David. ATOH7 as molecular basis for optic nerve hypoplasia and other retinal diseases. 2021, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
Maggi, Jordi. The Genetic Basis of Eye Diseases: Identification and Functional Characterization of Genes and Mutations. 2021, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
Kandaswamy, Dinesh Kumar; Prakash, Makarla Venkata Sathya; Graw, Jochen; Koller, Samuel; Magyar, István; Tiwari, Amit; Berger, Wolfgang; Santhiya, Sathiyaveedu Thyagarajan (2020). Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India. International Journal of Molecular Sciences, 21(24):9569.
Maggi, Jordi; Roberts, Lisa; Koller, Samuel; Rebello, George; Berger, Wolfgang; Ramesar, Rajkumar (2020). De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline. Genes, 11(7):800.
Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina (2020). Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. Translational vision science & technology, 9(7):47.
Ulv Larsen, Sara Marie; Landolt, Hans-Peter; Berger, Wolfgang; Nedergaard, Maiken; Knudsen, Gitte Moos; Holst, Sebastian Camillo (2020). Haplotype of the astrocytic water channel AQP4 is associated with slow wave energy regulation in human NREM sleep. PLoS Biology, 18(5):e3000623.
Klee, Katrin; Storti, Federica; Maggi, Jordi; Todorova, Vyara; Karademir, Duygu; Berger, Wolfgang; Samardzija, Marijana; Grimm, Christian (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. Genes, 11(1):E111.
Atac, David; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2020). Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human Molecular Genetics, 29(1):132-148.
Lang, Elena. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. 2020, University of Zurich, Faculty of Medicine.
Park, Hongryeol; Yamamoto, Hiroyuki; Mohn, Lucas; Ambühl, Lea; Kanai, Kenichi; Schmidt, Inga; Kim, Kee-Pyo; Fraccaroli, Alessia; Feil, Silke; Junge, Harald J; Montanez, Eloi; Berger, Wolfgang; Adams, Ralf H (2019). Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. Nature Communications, 10(1):5243.
Gerth-Kahlert, Christina; Koller, Samuel; Hanson, James V M; Baehr, Luzy; Tiwari, Amit; Kivrak-Pfiffner, Fatma; Bahr, Angela; Berger, Wolfgang (2019). Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science [IOVS], 60(8):2822-2835.
Ingold, Sabrina. Association of a body fluid with a DNA profile by targeted RNA/ DNA deep sequencing. 2019, University of Zurich, Faculty of Science.
Boiadjieva Knöpfel, Emilia; Vilches, Clara; Camargo, Simone M R; Errasti-Murugarren, Ekaitz; Stäubli, Andrina; Mayayo, Clara; Munier, Francis L; Miroshnikova, Nataliya; Poncet, Nadège; Junza, Alexandra; Bhattacharya, Shomi S; Prat, Esther; Berry, Vanita; Berger, Wolfgang; Heon, Elise; Moore, Anthony T; Yanes, Óscar; Nunes, Virginia; Palacín, Manuel; Verrey, Francois; Kloeckener-Gruissem, Barbara (2019). Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Frontiers in Physiology, 10:688.
Beck, Susanne C; Karlstetter, Marcus; Garcia Garrido, Marina; Feng, Yuxi; Dannhausen, Katharina; Mühlfriedel, Regine; Sothilingam, Vithiyanjali; Seebauer, Britta; Berger, Wolfgang; Hammes, Hans-Peter; Seeliger, Mathias W; Langmann, Thomas (2018). Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina. Scientific Reports, 8(1):5970.
Gerth-Kahlert, Christina; Koller, Samuel (2018). Retinale Ziliopathien. Klinische Monatsblätter für Augenheilkunde, 235(3):264-272.

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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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