Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetryHeike Olbrich, Heymut Omran, Karsten Häffner et al.|Nature Genetics|2002Cited by 557
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failureRalf Birkenhäger, Friedhelm Hildebrandt, Frank Beekmann et al.|Nature Genetics|2001Cited by 538
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A. Otto, Friedhelm Hildebrandt, Bart Loeys et al.|Nature Genetics|2005Cited by 404
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisHeike Olbrich, Heymut Omran, Manfred Fliegauf et al.|Nature Genetics|2003Cited by 368
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body AsymmetryHeike Olbrich, Heymut Omran|The American Journal of Human Genetics|2012Cited by 300