Associated Papers
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
31879347 (PubMed )
Supplement: pnas.1912602117.sapp.pdf
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Ramsbottom SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
30446612 (PubMed )
Supplement: pnas.1809432115.sapp.pdf
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
Select a paper to view details