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Institut für Medizinische Molekulargenetik

Publications 2022

  • Atac* D, Mohn* L, Feil S, Maggi K, Haenni D, Seebauer B, Koller S, Berger W (2022) Functional characterization of an in-frame deletion in the basic domain of the retinal transcription factor ATOH7. Int J Mol Sci 23:1053.
  • Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson L, Smith KE, Moulding D, Leong YC, Jafree D, Long D, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M (2022) The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. J Clin Invest Insight 7:e148586.
  • Kivrak Pfiffner F, Koller S, Ménétrey A, Graf U,  Bähr L,  Maspoli A, Hackenberg A, Kottke R, Gerth-Kahlert C, Berger W (2022) Homozygosity for a novel DOCK7 variant due to segmental uniparental isodisomy of chromosome 1 associated with early infantile epileptic encephalopathy (EIEE) and cortical visual impairment. Int J Mol Sci 23:7382.
  • Neubauer J, Kissel CK, Billiger SA, Barbon D, Thali MJ, Clobber D, Bode PK, Kovacs B, Graf U, Maspoli A, Berger W, Sager AM, Haas C (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 Sci Int 334:111240.
  • Peters F, Ebner LJA, Atac D, Maggi J, Berger W, den Hollander AI, Grimm C (2022) Regulation of ABCA1 by AMD-associated genetic variants and hypoxia in iPSC-RPE. Int J Mol Sci 23:31.

    *equal contribution; shared last authorship