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