• A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease
• An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
• Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus
• Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
• Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
• Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report
• The retinal ciliopathies
• Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction