Associated Papers
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y et al.
Bmc Medical Genetics, 2020
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Ott T et al.
Frontiers in Physiology, 2019
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
Hebbar M et al.
Journal of Human Genetics, 2018
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G et al.
Nature Cell Biology, 2015
26167768 (PubMed )
Supplement: NIHMS63737-supplement-SupTab6.xlsx › JS_MRI_features
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