Boltshauser, Eugen J.

Top Publications

Top Publications Authored or Co-Authored by "Boltshauser, Eugen J."

• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  Nature Genetics, Volume 38, No. 6, Year 2006, Citations 390
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 247
• Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

  Journal of Clinical Investigation, Volume 121, No. 7, Year 2011, Citations 189
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Nature Genetics, Volume 44, No. 2, Year 2012, Citations 169