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Institut für Medizinische Molekulargenetik

Publications 2021

  • Costa S, Medeiros-Domingo A, Gasperetti A, Akdis D, Berger W, James CA, Ruschitzka F, Brunckhorst CB, Duru F, Saguner AM (2021) Impact of genetic variant reassessment on the diagnosis of arrhythmogenic right ventricular cardiomyopathy based on the 2010 task force criteria. Circ Genom Precis Med 14:e003047.
  • Haug P, Koller S, Maggi J, Lang E, Silke Feil S, Wlodarczyk A, Bähr L, Steindl K, Rohrbach M, *Gerth-Kahlert C, *Berger W (2021) Whole exome sequencing in coloboma/microphthalmia: Identification of novel and recurrent variants in seven genes. Genes 12:65. 
  • Maggi J, Koller S, Baehr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W (2021) Long-range PCR-based NGS applications to diagnose Mendelian retinal diseases. Int J Mol Sci 22:1508.
  • Rechsteiner D, Issler L, Koller S, Lang E, Bähr L, Feil S, Rüeggger C, Kottke R, Toelle S, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, *Berger W, *Gerth- Kahlert C (2021) Genetic analysis in a Swiss cohort of bilateral congenital cataract. JAMA Ophthalmol 139:691-700.

    *equal contribution; shared last authorship