All publications

ZORA Publikationsliste

Publikationen

• 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.
• 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.
• 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.
• 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.
• Waschkies, Conny F; Kivrak-Pfiffner, Fatma; Heuberger, Dorothea M; Schneider, Marcel A; Tian, Yinghua; Wolint, Petra; Calcagni, Maurizio; Giovanoli, Pietro; Buschmann, Johanna (2020). Tumor grafts grown on the chicken chorioallantoic membrane are distinctively characterized by MRI under functional gas challenge Scientific Reports, 10(1):7505.
• 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.
• 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.
• 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.
• Valomon, Amandine; Holst, Sebastian C; Borrello, Alessandro; Weigend, Susanne; Müller, Thomas; Berger, Wolfgang; Sommerauer, Michael; Baumann, Christian R; Landolt, Hans-Peter (2018). Effects of COMT genotype and tolcapone on lapses of sustained attention after sleep deprivation in healthy young men Neuropsychopharmacology, 43(7):1599-1607.
• Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147 Human Molecular Genetics, 26(21):4203-4214.

Seitennummerierung