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Number of items: 26.

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2017). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics:Epub ahead of print.

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.

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.

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.

Medeiros-Domingo, Argelia; Saguner, Ardan M; Magyar, István; Bahr, Angela; Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Berger, Wolfgang (2016). Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Europace:Epub ahead of print.

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.

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.

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.

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.

Da Costa, Romain; Glaus, Esther; Tiwari, Amit; Kloeckener-Gruissem, Barbara; Berger, Wolfgang; Neidhardt, John (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Therapy, 22(5):413-420.

Imthurn, Bruno; Berger, Wolfgang; Macas, Ervin; Magyar, István; Oneda, Beatrice; Rauch, Anita; Xie, Min (2015). Polar body diagnosis (PBD): an alternative and supplement to preimplantation diagnosis for single embryo transfer. In: Sills, E Scott. Screening the Single Euploid Embryo : Molecular Genetics in Reproductive Medicine. International Publishing Switzerland: Springer, 103-122.

Haghighi, Alireza; Tiwari, Amit; Piri, Niloofar; Nürnberg, Gudrun; Saleh-Gohari, Nasrollah; Haghighi, Amirreza; Neidhardt, John; Nürnberg, Peter; Berger, Wolfgang (2014). Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE, 9(11):e112747.

Holst, Sebastian C; Bersagliere, Alessia; Bachmann, Valérie; Berger, Wolfgang; Achermann, Peter; Landolt, Hans-Peter (2014). Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. Journal of Neuroscience, 2(34):566-573.

Valomon, Amandine; Holst, Sebastian C; Bachmann, Valérie; Viola, Antoine U; Schmidt, Christina; Zürcher, Jurian; Berger, Wolfgang; Cajochen, Christian; Landolt, Hans-Peter (2014). Genetic polymorphisms of DAT1 and COMT differentially associate with actigraphy-derived sleep-wake cycles in young adults. Chronobiology international, 31(5):705-714.

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Bukowy-Bieryllo, Zuzanna; Zietkiewicz, Ewa; Loges, Niki Tomas; Wittmer, Mariana; Geremek, Maciej; Olbrich, Heike; Fliegauf, Manfred; Voelkel, Katarzyna; Rutkiewicz, Ewa; Rutland, Jonathan; Morgan, Lucy; Pogorzelski, Adrzej; Martin, James; Haan, Eric; Berger, Wolfgang; Omran, Heymut; Witt, Michal (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48(4):352-363.

Thun, Gian Andri; Imboden, Medea; Berger, Wolfgang; Rochat, Thierry; Probst-Hensch, Nicole M (2013). The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study. Journal of Asthma, 50(2):147-154.

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Collin, Rob W J; Nikopoulos, Konstantinos; Dona, Margo; Gilissen, Christian; Hoischen, Alexander; Boonstra, F Nienke; Poulter, James A; Kondo, Hiroyuki; Berger, Wolfgang; Toomes, Carmel; Tahira, Tomoko; Mohn, Lucas R; Blokland, Ellen A; Hetterschijt, Lisette; Ali, Manir; Groothuismink, Johanne M; Duijkers, Lonneke; Inglehearn, Chris F; Sollfrank, Lea; Strom, Tim M; Uchio, Eiichi; van Nouhuys, C Erik; Kremer, Hannie; Veltman, Joris A; van Wijk, Erwin; Cremers, Frans P M (2013). ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America, 110(24):9856-9861.

Menghini, Moreno; Kloeckener-Gruissem, Barbara; Fleischhauer, Johannes; Kurz-Levin, Malaika M; Sutter, Florian K P; Berger, Wolfgang; Barthelmes, Daniel (2012). Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS ONE, 7(7):e42014.

Zuercher, Jurian; Fritzsche, Martin; Feil, Silke; Mohn, Lucas; Berger, Wolfgang (2012). Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Human Molecular Genetics, 21(12):2619-2630.

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P; Munier, Francis L; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P; Schorderet, Daniel F; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S; Zeitz, Christina (2012). Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics, 90(2):321-330.

This list was generated on Mon Sep 25 16:39:50 2017 CEST.