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Institut für Medizinische Molekulargenetik

Publications 2014

  • Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J (2014) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 22:99-104
  • Haghighi A, Tiwari A, Piri N, Nurnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nurnberg P, Berger W (2014) Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE 9:e112747
  • Holst SC, Bersagliere A, Bachmann V, Berger W, Achermann P, Landolt HP (2014) Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. J Neurosci 8:566-573
  • Oczos J, Sutter I, Kloeckener-Gruissem B, Berger W, Riwanto M, Rentsch K, Hornemann T, von Eckardstein A, Grimm C (2014) Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Invest Ophthalmol Vis Sci 55:4714-4727
  • Valomon A, Holst SC, Bachmann V, Viola AU, Schmidt C, Zürcher J, Berger W, Cajochen C, Landolt HP (2014) Genetic polymorphisms of DAT1 and COMT differentially associate with actigraphy-derived sleep-wake cycles in young adults. Chronobiol Int 31:705-714

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