Associated Papers
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
Doornbos C et al.
European Journal of Human Genetics : Ejhg, 2021
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
Smith C et al.
American Journal of Medical Genetics. Part A, 2016
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
Hoffer JL et al.
Clinical Genetics, 2013
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C et al.
American Journal of Human Genetics, 2010
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