Heymut Omran

Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma

Genevieve Schindler, David Capper, Jochen Meyer et al. · Acta Neuropathologica · 2011 · 1K citations

Medicine, Genetics, Oncology +14

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Jane S. Lucas, Angelo Barbato, Samuel A. Collins et al. · European Respiratory Journal · 2016 · 703 citations · Full text

Medicine, Clinical Sciences, Diagnostic Reasoning +13

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Heike Olbrich, Karsten Häffner, Andreas Kispert et al. · Nature Genetics · 2002 · 557 citations

Life Sciences, Genetics, Molecular Genetics +11

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

Medicine, Neurology, Neuroscience +11

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Ralf Birkenhäger, Edgar A. Otto, Maria J. Schürmann et al. · Nature Genetics · 2001 · 538 citations

Medicine, Nephrology, Neurology +9