Dan Doherty

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome

Bo Huang, Galo Garcia, G. Pazour, 2017, bioRxiv.

Joubert syndrome (and related disorders) (OMIM 213300)

I. Glass, P. Chance, M. Parisi, 2007, European Journal of Human Genetics.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

William B Dobyns, Renske Oegema, A. Green, 2015, Human molecular genetics.

Joubert syndrome: insights into brain development, cilium biology, and complex disease.

D. Doherty, Dan Doherty, 2009, Seminars in pediatric neurology.

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

A James Barkovich, A. Barkovich, K. Millen, 2013, The Lancet Neurology.

Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Bo Huang, Galo Garcia, Jeremy F Reiter, 2017, Nature Cell Biology.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Martin Kircher, George Anadiotis, Michael J Bamshad, 2019, American journal of human genetics.

Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Shashidhar Pai, Ian Glass, Louise Izatt, 2012, Journal of Medical Genetics.