Roosing, S., Rosti, R. O., Rosti, B., de Vrieze, E., Silhavy, J. L., van Wijk, E., . . . Gleeson, J. G. (2016). Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Hum Genet.

Roosing, Susanne, Rasim O. Rosti, Basak Rosti, Erik de Vrieze, Jennifer L. Silhavy, Erwin van Wijk, Emma Wakeling, and Joseph G. Gleeson. "Identification of a Homozygous Nonsense Mutation in KIAA0556 in a Consanguineous Family Displaying Joubert Syndrome." Hum Genet 2016.

Roosing, Susanne, et al. "Identification of a Homozygous Nonsense Mutation in KIAA0556 in a Consanguineous Family Displaying Joubert Syndrome." Hum Genet 2016.