Melanie Isau

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger et al. · Nature Genetics · 2010 · 298 citations · Full text

Bioinformatics, Developmental Biology, Mendelian Disorder +11

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, Christina Roehr et al. · PLoS ONE · 2010 · 240 citations · Full text

Targeted high throughput sequencing in clinical cancer Settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity

Martin Kerick, Melanie Isau, Bernd Timmermann et al. · BMC Medical Genomics · 2011 · 182 citations · Full text

Genome-wide DNA Methylation Events in <i>TMPRSS2–ERG</i> Fusion-Negative Prostate Cancers Implicate an EZH2-Dependent Mechanism with <i>miR-26a</i> Hypermethylation

Stefan T. Börno, Axel Fischer, Martin Kerick et al. · Cancer Discovery · 2012 · 134 citations

FOX-2 Dependent Splicing of Ataxin-2 Transcript Is Affected by Ataxin-1 Overexpression

Franziska Welzel, Christian Kaehler, Melanie Isau et al. · PLoS ONE · 2012 · 10 citations · Full text

Genetics, Ataxin-2 Transcript Is, Genomic Mechanism +17