FriedhelmHildebrandtMD

PubMed

• 75 citations
  A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.
  Markus M. Rinschen, Markus Gödel, Florian Grahammer, Stefan Zschiedrich, Martin Helmstädter
  Cell Reports. 2018-05-22
• 144 citations
  The copy number variation landscape of congenital anomalies of the kidney and urinary tract
  Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu
  Nature Genetics. 2019-01-01
• 21 citations
  Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
  Caroline M. Kolvenbach, Gabriel C. Dworschak, Sandra K. Frese, Anna Sophia Japp, Peggy Schuster
  American Journal of Human Genetics. 2019-05-02

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