Publications 2013

  • Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SMR, Kloeckener-Gruissem B (2013) The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet 22:3218-3226
  • Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan LC, Pogorzelski A, Martin J, Haan EA, Berger W, Omran H, Witt M (2012) RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol 48:352-363
  • Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP (2013) ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A 110:9856-9861
  • Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, MacDonald MJ, Nas V, Fry AE, Berger W (2013) Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet 21:352-356
  • Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK (2013) Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat 34:1537-1546
  • Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W. (2013) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age (Dordr) 35:1651-1662
  • Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J (2013) A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Hum Gene Ther 24:97-104
  • Thun GA, Imboden M, Berger W, Rochat T, Probst-Hensch NM (2013) The Association of a Variant in the Cell Cycle Control Gene CCND1 and Obesity on the Development of Asthma in the Swiss SAPALDIA Study. J Asthma 50:147-154
  • Weemaes CMR, van Tol MJD, Wang J, van Ostaijen-ten Dam MM, van Eggermond MCJM, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, E. Davies G, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet 208:1102-1112