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Institut für Medizinische Molekulargenetik

Publications 2020

  • Atac D, Koller S, Hanson JVM, Feil S, Tiwari A, Bahr A, Baehr L, Magyar I, Kottke R, Gerth-Kahlert C, Berger W (2020) Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Hum Mol Genet 29:132-148.
  • Kandaswamy DK, Prakash MVS, Graw J, Koller S, Magyar I, Tiwari A, Berger W, Santhiya ST (2020) Application of WES towards molecular investigation of congenital cataracts: Identification of novel alleles and genes in a hospital-based cohort of south India. Int J Mol Sci 21:9569.
  • Klee K, Storti F, Maggi J, Todorova V, Karademir D, Berger W, Samardzija M, Grimm C (2020) The expression of DEPP is controlled by three distal consensus HRE elements in hypoxic retinal epithelial cells. Genes 11:111.
  • Lang E, Koller S, Atac D,Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, *Berger W, *Gerth-Kahlert C (2020) Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmol (online ahead of print).
  • Lang E, Koller S, Bähr L, Töteberg-Harms M, Atac D, Roulez F, Bahr A, Steindl K, Feil F, *Berger W, *Gerth-Kahlert C (2020) Exome sequencing in a Swiss childhood glaucoma cohort reveals CYP1B1 and FOXC1 variants as most frequent causes. Transl Vis Sci Technol 9:47.
  • Maggi J, Roberts L, Koller S, Rebello G, *Berger W, *Ramesar R (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 11:800.
  • Ulv Larsen SM, Landolt HP, Berger W, Nedergaard M, Knudsen GM, Holst SC (2020) Haplotype of the astrocytic water channel AQP4 is associated with slow wave energy regulation in human NREM sleep. PLoS Biol 18:e3000623.

*equal contribution; shared last authorship