Rank | Title | Journal | Year | PubWeight™‹?› |
---|---|---|---|---|
1 | TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. | Am J Hum Genet | 2011 | 1.65 |
2 | Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. | J Med Genet | 2012 | 1.02 |
3 | Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. | Acta Neuropathol | 2012 | 0.99 |