Hildebrandt, Friedhelm

Top Publications

Top Publications Authored or Co-Authored by "Hildebrandt, Friedhelm"

• A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

  Journal of the American Society of Nephrology, Volume 26, No. 6, Year 2015, Citations 489
• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  American Journal of Human Genetics, Volume 83, No. 2, Year 2008, Citations 360
• Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

  Cell, Volume 150, No. 3, Year 2012, Citations 357
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption

  Journal of Clinical Investigation, Volume 123, No. 12, Year 2013, Citations 284