L. Mian

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

J. Mullikin, C. Toro, W. Gahl, 2015, Journal of Medical Genetics.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

J. Mullikin, Nisc Comparative Sequencing Program, W. Gahl, 2017, Human Genetics.