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, Emilie Filhol et al.|The American Journal of Human Genetics|2013Cited by 232
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