Associated Papers
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
35764379 (PubMed )
Supplement: jmedgenet-2022-108476supp001.pdf
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
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
Barny I et al.
Genes, 2019
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Srivastava S et al.
Human Molecular Genetics, 2017
Select a paper to view details