Friedhelm Hildebrandt

Research.com Recognitions

• 2015 - Member of the National Academy of Medicine (NAM)
• 2007 - German National Academy of Sciences Leopoldina - Deutsche Akademie der Naturforscher Leopoldina – Nationale Akademie der Wissenschaften Gynaecology and Paediatrics
• 2004 - E. Mead Johnson Award, Society for Pediatric Research
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians

Overview

Best Publications

• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

  John A. Sayer;John A. Sayer;Edgar A. Otto;John F. O'Toole;Gudrun Nurnberg

  764
  Citations

• Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

  Edgar A. Otto;Bernhard Schermer;Tomoko Obara;John F. O'Toole

  720
  Citations

• A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

  Francesc R Garcia-Gonzalo;Kevin C Corbit;María Salomé Sirerol-Piquer;Gokul Ramaswami

  686
  Citations

• Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

  Bernward Hinkes;Roger C. Wiggins;Rasheed Gbadegesin;Christopher N. Vlangos

  647
  Citations

• Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

  Liyun Sang;Julie J. Miller;Kevin C. Corbit;Rachel H. Giles

  641
  Citations

• Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

  Raúl Estévez;Thomas Boettger;Valentin Stein;Ralf Birkenhäger

  638
  Citations

• Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

  Heike Olbrich;Karsten Häffner;Andreas Kispert;Alexander Völkel

  633
  Citations

• A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

  Carolin E. Sadowski;Svjetlana Lovric;Shazia Ashraf;Werner L. Pabst

  623
  Citations

• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

  Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  564
  Citations

• Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

  Ralf Birkenhäger;Edgar Otto;Maria J. Schürmann;Martin Vollmer

  559
  Citations

• Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

  Rainer G Ruf;Anne Lichtenberger;Stephanie M Karle;Johannes P Haas

  555
  Citations

• Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

  Bernward G Hinkes;Bettina Mucha;Christopher N Vlangos;Rasheed Gbadegesin

  538
  Citations

• A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.

  Gagan D. Gupta;Étienne Coyaud;João Gonçalves;Bahareh A. Mojarad

  534
  Citations

• SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

  Rainer G. Ruf;Pin-Xian Xu;Derek Silvius;Edgar A. Otto

  488
  Citations

• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

  Edgar A. Otto;Bart Loeys;Hemant Khanna;Jan Hellemans

  464
  Citations

• Nephronophthisis: Disease Mechanisms of a Ciliopathy

  Friedhelm Hildebrandt;Massimo Attanasio;Edgar Otto

  447
  Citations

• Nephronophthisis-Associated Ciliopathies

  Friedhelm Hildebrandt;Weibin Zhou

  441
  Citations

• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

  Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  431
  Citations

• Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

  Heike Olbrich;Manfred Fliegauf;Julia Hoefele;Andreas Kispert

  428
  Citations

• In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

  Bo Chang;Hemant Khanna;Norman Hawes;David Jimeno

  425
  Citations