Julia Hoefele

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 et al. · Nature Genetics · 2003 · 641 citations · Full text

Pathogenesis, Immunology, Iga Glomerulonephritis +6

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

Heike Olbrich, Manfred Fliegauf, Julia Hoefele et al. · Nature Genetics · 2003 · 364 citations

Ocular Disease, Mendelian Disorder, Novel Gene +9

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology · 2011 · 229 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +26

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf et al. · Journal of Clinical Investigation · 2013 · 226 citations · Full text

Glomerulonephritis, Renal Function, Disease Mechanism +15

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Edgar A. Otto, Julia Hoefele, Rainer Ruf et al. · The American Journal of Human Genetics · 2002 · 208 citations · Full text

Biology, Novel Protein, Natural Sciences +12