SCAPER

Publications

Tatour Y et al. Mutations in SCAPER cause Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability. J Med Genet. 2017;54:698–704.  PMID: 28794130.

Carss K J et al. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Am J Hum Genet. 2017;100:75-90.  PMID: 28041643.

Najmabadi H et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011;478:57-63.  PMID: 21937992.

Jauregui R et al. SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa. Am J Med Genet A. 2018.  PMID: 30561111.

Wormser O et al. SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. Eur J Hum Genet 2019; doi: 10.1038/s41431-019-0347-z.  PMID: 30723319