Susanne Markus

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Wei Chen, Reinhard Ullmann, Claudia Langnick et al. · European Journal of Human Genetics · 2009 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome

Christine Neuhaus, Tobias Eisenberger, Christian Decker et al. · Molecular Genetics & Genomic Medicine · 2017 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

Matthias Begemann, Sabrina Spengler, Deniz Kanber et al. · Clinical Genetics · 2010 · 64 citations

Life Sciences, Genetics, Molecular Genetics +16

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert et al. · PLoS ONE · 2018 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch et al. · Proceedings of the National Academy of Sciences · 2018 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13