All publications

ZORA Publication List

Publications

• 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.
• Gerth-Kahlert, Christina; Maggi, Jordi; Töteberg-Harms, Marc; Tiwari, Amit; Budde, Birgit; Nürnberg, Peter; Koller, Samuel; Berger, Wolfgang (2018). Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria. Ophthalmology Glaucoma, 1(2):145-147.
• Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula (2018). Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes. International Journal of Legal Medicine, 132(4):1057-1065.
• 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.
• Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.
• Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2017). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace, 19(6):1063-1069.
• Holst, Sebastian C; Müller, Thomas; Valomon, Amandine; Seebauer, Britta; Berger, Wolfgang; Landolt, Hans-Peter (2017). Functional polymorphisms in dopaminergic genes modulate neurobehavioral and neurophysiological consequences of sleep deprivation. Scientific Reports, 7:45982.
• Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula (2017). Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. European Journal of Human Genetics, 25(4):404-409.
• Neubauer, Jacqueline. Molecular autopsy in Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death (SUD) in the young. 2017, University of Zurich, Faculty of Medicine.
• Beck, Susanne C; Feng, Yuxi; Sothilingam, Vithiyanjali; Garcia Garrido, Marina; Tanimoto, Naoyuki; Acar, Niyazi; Shan, Shenliang; Seebauer, Britta; Berger, Wolfgang; Hammes, Hans-Peter; Seeliger, Mathias W (2017). Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. PLoS ONE, 12(6):e0178753.
• Urry, Emily; Jetter, Alexander; Holst, Sebastian C; Berger, Wolfgang; Spinas, Giatgen A; Langhans, Wolfgang; Landolt, Hans-Peter (2017). A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. Journal of Psychopharmacology, 31(2):233-242.
• Kloeckener-Gruissem, Barbara; Dours-Zimmermann, Maria T; Skosyrski, Sergej; Brunner, Sandra; Mjaatvedt, Corey H; Zimmermann, Dieter R; Rüther, Klaus; Berger, Wolfgang (2016). A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters:20160500004.
• Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.
• Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.
• Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.
• Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.
• Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Erratum to: Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International Journal of Legal Medicine, 130(4):1023.
• Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang (2016). Post-mortem whole-exome sequencing(WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death(SUD) cases. International Journal of Legal Medicine, 130(4):1011-1021.
• Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin P; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel V; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.
• Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

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