Navigation auf uzh.ch

Suche

Institut für Medizinische Molekulargenetik

Publications 2019

  • Gerth-Kahlert C, Koller S, Hanson JVM, Baehr L, Tiwari A, Kivrak Pfiffner F, Bahr A, Berger W (2019) Genotype - phenotype analysis of a novel recessive and a recurrent dominant SNRNP200 variant causing retinitis pigmentosa. Invest Ophthalmol Vis Sci 60:2822-2835.
  • Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B (2019) Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse and humans. Front Physiol 10:688.
  • Park H, Yamamoto H, Mohn L, Ambühl L, Kanai K, Schmidt I, Kim KP, Fraccaroli A, Feil S, Junge HJ, Montanez E, Berger W, Adams RH (2019) Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. Nat Commun 10:5243.

Awards and Awardees