Associated Papers
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T et al.
Human Molecular Genetics, 2011
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA et al.
American Journal of Human Genetics, 2009
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