FriedhelmHildebrandtMD

PubMed

• 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
• Genetic Contributions to Lower Urinary Tract Dysfunction.
  Lilian R Hiltebeitel, Steve Seltzsam, Chunyan Wang, Ted Lee, Leah Bolsius
  American Journal of Medical Genetics. Part A. 2025-01-01
• 1 citations
  Epigenomic and phenotypic characterization of DEGCAGS syndrome.
  Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova
  European Journal of Human Genetics. 2024-12-01

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