Boris Utsch

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

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 et al. · Nature Genetics · 2005 · 401 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +6

Evidence of Oligogenic Inheritance in Nephronophthisis

Julia Hoefele, Matthias T. F. Wolf, John F. O’Toole et al. · Journal of the American Society of Nephrology · 2007 · 144 citations

Hypomorphic mutations in meckelin (<i>MKS3/TMEM67</i>) cause nephronophthisis with liver fibrosis (NPHP11)

Edgar A. Otto, Kálmán Tory, Massimo Attanasio et al. · Journal of Medical Genetics · 2009 · 128 citations · Full text

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Boris Utsch, John A. Sayer, Massimo Attanasio et al. · Pediatric Nephrology · 2005 · 96 citations · Full text

Developmental Biology, Nephronophthisis-associated Joubert Syndrome, Mendelian Disorder +8