Janecke, Andreas Robert

Top Publications

Top Publications Authored or Co-Authored by "Janecke, Andreas Robert"

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 230
• 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
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 145
• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

  Journal of Medical Genetics, Volume 48, No. 2, Year 2011, Citations 141
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100