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Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.Pageof 9