Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA et al.
Human Molecular Genetics, 2015
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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