New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyPhilip L. Beales, Frances Flinter, Nursel Elçioğlu et al.|Journal of Medical Genetics|1999Cited by 971
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumNicholas Katsanis, Erica E. Davis, Qi Zhang et al.|Nature Genetics|2011Cited by 381
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Nicholas Katsanis, Erica E. Davis et al.|Nature Genetics|2009Cited by 268
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.Philip L. Beales, Frances Flinter, Alison Warner et al.|Journal of Medical Genetics|1997Cited by 233
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in HumansJan Halbritter, Friedhelm Hildebrandt, Albane A. Bizet et al.|The American Journal of Human Genetics|2013Cited by 232