Arts, Heleen H.

Top Publications

Top Publications Authored or Co-Authored by "Arts, Heleen H."

• Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

  Cell, Volume 150, No. 3, Year 2012, Citations 357
• CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

  American Journal of Human Genetics, Volume 83, No. 5, Year 2008, Citations 226
• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Nature Communications, Volume 7, Article 11491, Year 2016, Citations 201
• Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations

  American Journal of Human Genetics, Volume 90, No. 5, Year 2012, Citations 180
• Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy

  American Journal of Human Genetics, Volume 93, No. 5, Year 2013, Citations 34