Jonathan Adkins

Author PubWeight™ 3.59‹?›

Top papers

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