Jürgen Kohlhase

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Sabine Endele, Georg Rosenberger, Kirsten Geider et al. · Nature Genetics · 2010 · 509 citations

Life Sciences, Genetics, Neuroscience +16

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Christiane Tasse, Stefan Böhringer, Sven Fischer et al. · European Journal of Medical Genetics · 2005 · 214 citations

Medicine, Ophthalmology, Radiology +8

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Christian P. Kratz, Lude Franke, Harm Peters et al. · British Journal of Cancer · 2015 · 212 citations · Full text

Medicine, Genetics, Oncology +17

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg et al. · Arthritis & Rheumatism · 2010 · 210 citations

Life Sciences, Genetics, Molecular Genetics +16