CiliopathiesDaniela A. Braun, Friedhelm Hildebrandt|Cold Spring Harbor Perspectives in Biology|2016Cited by 398
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/NephrocalcinosisJan Halbritter, Friedhelm Hildebrandt, Michelle A. Baum et al.|Journal of the American Society of Nephrology|2014Cited by 243
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathyEdgar A. Otto, Jan Halbritter, Jonathan D. Porath et al.|Human Genetics|2013Cited by 236
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in HumansJan Halbritter, Friedhelm Hildebrandt, Emma L. Duncan et al.|The American Journal of Human Genetics|2013Cited by 232
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeDaniela A. Braun, Friedhelm Hildebrandt, Carolin E. Sadowski et al.|Nature Genetics|2016Cited by 223