Associated Papers
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Owens JW et al.
Annals of Human Genetics, 2024
Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.
Klugman S et al.
Genetic Testing and Molecular Biomarkers, 2013
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Edvardson S et al.
American Journal of Human Genetics, 2010
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