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 · 2.2K citations · Full text

Chromatin, Chromatin Structure, Chromatin Remodeling +11

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 · 367 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

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 · 284 citations

Neuro-oncology, Developmental Biology, Ependyma +7

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 · 254 citations

Tumor Biology, Aberrant Methylation, Breast Oncology +10

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 · 246 citations · Full text