Thomas J. Neuhaus

Osteopontin is a hematopoietic stem cell niche component that negatively regulates stem cell pool size

Sebastian Stier, Yon Ko, Randolf Forkert et al. · The Journal of Experimental Medicine · 2005 · 683 citations · Full text

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

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

Transcription Factor Atf4, Transcriptional Regulation, Developmental Biology +10

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

Rainer Ruf, Pin‐Xian Xu, Derek Silvius et al. · Proceedings of the National Academy of Sciences · 2004 · 417 citations · Full text

Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome

Rainer Ruf, Anne Lichtenberger, Stephanie M. Karle et al. · Journal of the American Society of Nephrology · 2004 · 413 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +17

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Ellen Windelen et al. · Kidney International · 2005 · 341 citations · Full text

Pkhd1 Mutations, Urology, Renal Disease +11