Reinhard Schneppenheim

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Dominik Sturm, Brent A. Orr, Umut H. Toprak et al. · Cell · 2016 · 973 citations · Full text

Neuro-oncology, Molecular Classification, Cerebral Organoid +8

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Pascal D. Johann, Serap Erkek, Marc Zapatka et al. · Cancer Cell · 2016 · 553 citations

Chromatin, Chromatin Remodeling, Medicine +10

A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD)

Alberto Tosetto, Francesco Rodeghiero, Giancarlo Castaman et al. · Journal of Thrombosis and Haemostasis · 2006 · 523 citations · Full text

Thrombosis, Type 1, Hematology +11

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

Anne Goodeve, Jeroen Eikenboom, Giancarlo Castaman et al. · Blood · 2006 · 397 citations · Full text

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

René Santer, Reinhard Schneppenheim, Anja Dombrowski et al. · Nature Genetics · 1997 · 332 citations

Metabolic Syndrome, Mendelian Disorder, Health Sciences +10