Most recent publications, epub ahead of print or in press

  • 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 (in press).
  • 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. 

 

Awards and Awardees