Associated Papers
A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Kumar D et al.
The Journal of Cell Biology, 2021
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
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
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