Bolz, Hanno Jörn

Top Publications

Top Publications Authored or Co-Authored by "Bolz, Hanno Jörn"

• 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
• ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

  Nature Genetics, Volume 45, No. 8, Year 2013, Citations 178
• The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

  Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 12, Year 2014, Citations 76
• Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome

  Molecular Genetics and Genomic Medicine, Volume 5, No. 5, Year 2017, Citations 60
• Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

  Investigative Ophthalmology and Visual Science, Volume 56, No. 13, Year 2015, Citations 42