Eva Klopocki

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich et al. · Cell · 2015 · 2.3K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß et al. · The American Journal of Human Genetics · 2007 · 369 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Juliane Najm, Denise Horn, Isabella Wimplinger et al. · Nature Genetics · 2008 · 289 citations

Medicine, Genetics, Neuroscience +12

Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis

Jürgen Veeck, Dieter Niederacher, Han‐Xiang An et al. · Oncogene · 2006 · 257 citations

Medicine, Cancer Biology, Oncology +17

The core <i>FOXG1</i> syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Fanny Kortüm, Soma Das, M. Flindt et al. · Journal of Medical Genetics · 2011 · 247 citations

Life Sciences, Genetics, Molecular Genetics +17