Friedhelm Hildebrandt MD

PubMed

• Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.
  Bree E Martin, Margaret M Meserve, Camille Nicolas Frank, Farhana Amanullah, Isa Ashoor
  Kidney360. 2026-08-05
• How variant discovery redefines genetic prevalence: the case of cystine stone disease.
  Chen-Han Wilfred Wu, Joshua Chang, Katreya Lovrenert, Donald Bodner, Friedhelm Hildebrandt
  European Journal of Human Genetics. 2026-07-01
• A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseases.
  Rachael M Cox, Ophelia Papoulas, Shirlee Shril, Chanjae Lee, Tynan P Gardner
  Cell Genomics. 2026-06-10

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, 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