Associated Papers
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.
Parker SC et al.
Plos Genetics, 2012
22912592 (PubMed )
Supplement: pgen.1002871.s018.xls › tissue
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS et al.
Investigative Ophthalmology & Visual Science, 2006
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