Margje Sinnema

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Dementia in Older Adults With Intellectual Disabilities-Epidemiology, Presentation, and Diagnosis

André Strydom, Shahin Shooshtari, Lynette Lee et al. · Journal of Policy and Practice in Intellectual Disabilities · 2010 · 144 citations · Full text

Medicine, Neurology, Psychiatry +17

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Physical health problems in adults with Prader–Willi syndrome

Margje Sinnema, Marian A. Maaskant, H. M. J. van Schrojenstein Lantman‐de Valk et al. · American Journal of Medical Genetics Part A · 2011 · 113 citations

Life Sciences, Pediatrics, Disability +8

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 102 citations · Full text

Life Sciences, Genetics, Neuroscience +17