Friedhelm Hildebrandt MD

PubMed

• The contribution of de novo coding mutations to meningomyelocele.
  Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb
  Nature. 2025-03-26
• 1 citations
  Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephr...
  Ronen Schneider, Shirlee Shril, Florian Buerger, Konstantin Deutsch, Kirollos Yousef
  Genes & Diseases. 2025-03-01
• Phenotypic quantification of Nphs1-deficient mice.
  Ronen Schneider, Bshara Mansour, Caroline M Kolvenbach, Florian Buerger, Daanya Salmanullah
  Journal of Nephrology. 2025-01-01

Journal Articles

• Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract  
  Deborah R Stein, Friedhelm Hildebrandt, Richard P Lifton, Amar J Majmundar, Nina Mann, Jillian K Warejko, Michelle A Baum, Asaf Vivante, Nancy M Rodig, Jing Chen, Mich..., Journal of the American Society of Nephrology
• Mutations in WDR4 as a New Cause of Galloway–Mowat Syndrome  
  Amar J Majmundar, Jillian K Warejko, Jing Chen, Friedhelm Hildebrandt, Ankana Daga, American Journal of Medical Genetics Part A
• GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome  
  Jillian K Warejko, Friedhelm Hildebrandt, Amar J Majmundar, Heidi L Rehm, Richard P Lifton, Laura S Finn, Ankana Daga, Journal of the American Society of Nephrology

Lectures

• Linking Genotype to Phenotype in the Age of Big Data 
  American Society of Nephrology Kidney Week 2019 - Washington, D.C. - 11/7/2019