CIDR Whole Exome Sequencing in Joubert Syndrome

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

E. Valente, J. Silhavy, F. Brancati, et al.. (2006). Nature Genetics. Cited 401 times. https://doi.org/10.1038/ng1805

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Vincent Cantagrel, J. Silhavy, S. Bielas, et al.. (2008). American journal of human genetics. Cited 387 times. https://doi.org/10.1016/j.ajhg.2008.06.023

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

E. Davis, Qi Zhang, Qin Liu, et al.. (2011). Nature genetics. Cited 362 times. https://doi.org/10.1038/ng.756

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Tracy Dixon-Salazar, J. Silhavy, S. E. Marsh, et al.. (2004). American journal of human genetics. Cited 287 times. https://doi.org/10.1086/425985

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, D. Lefeber, B. Ng, et al.. (2010). Cell. Cited 277 times. https://doi.org/10.1016/j.cell.2010.06.001

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

E. Valente, C. Logan, S. Mougou-Zerelli, et al.. (2010). Nature genetics. Cited 277 times. https://doi.org/10.1038/ng.594

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

S. Bielas, J. Silhavy, F. Brancati, et al.. (2009). Nature genetics. Cited 266 times. https://doi.org/10.1038/ng.423

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

F. Brancati, Giuseppe Barrano, J. Silhavy, et al.. (2007). American journal of human genetics. Cited 151 times. https://doi.org/10.1086/519026

AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders

E. Valente, F. Brancati, J. Silhavy, et al.. (2006). Annals of Neurology. Cited 151 times. https://doi.org/10.1002/ana.20749

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome‐related disorders

Shifteh Sattar, J. Gleeson. (2011). Developmental Medicine & Child Neurology. Cited 140 times. https://doi.org/10.1111/j.1469-8749.2011.04021.x

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

F. Brancati, M. Iannicelli, L. Travaglini, et al.. (2009). Human Mutation. Cited 111 times. https://doi.org/10.1002/humu.20924

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M. Louie, G. Caridi, V. Lopes, et al.. (2010). Nature genetics. Cited 110 times. https://doi.org/10.1038/ng.519

Distinguishing the four genetic causes of jouberts syndrome–related disorders

E. Valente, S. E. Marsh, M. Castori, et al.. (2005). Annals of Neurology. Cited 102 times. https://doi.org/10.1002/ana.20422

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

M. Iannicelli, F. Brancati, S. Mougou-Zerelli, et al.. (2010). Human Mutation. Cited 99 times. https://doi.org/10.1002/humu.21239

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

F. Brancati, L. Travaglini, D. Zablocka, et al.. (2008). Clinical Genetics. Cited 72 times. https://doi.org/10.1111/j.1399-0004.2008.01047.x

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Ramy M Hanna, S. E. Marsh, Dominika Swistun, et al.. (2011). Neurology. Cited 49 times. https://doi.org/10.1212/WNL.0b013e318208f492

Expanding CEP290 mutational spectrum in ciliopathies

L. Travaglini, F. Brancati, T. Attié‐Bitach, et al.. (2009). American Journal of Medical Genetics Part A. Cited 40 times. https://doi.org/10.1002/ajmg.a.33025