FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repairWeibin Zhou, Friedhelm Hildebrandt, Susan J. Allen et al.|Nature Genetics|2012Cited by 244
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signalingHeon Yung Gee, Friedhelm Hildebrandt, Pawaree Saisawat et al.|Journal of Clinical Investigation|2013Cited by 237
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
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6Maimoona A. Zariwala, Friedhelm Hildebrandt, Cordula Koerner‐Rettberg et al.|The American Journal of Human Genetics|2013Cited by 204
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaChristina Austin‐Tse, Friedhelm Hildebrandt, Jan Halbritter et al.|The American Journal of Human Genetics|2013Cited by 201