Willem M.R. van den Akker

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling et al. · The American Journal of Human Genetics · 2012 · 271 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg et al. · The American Journal of Human Genetics · 2012 · 182 citations · Full text

Medicine, Genetics, Molecular Genetics +6

A homozygous nonsense mutation in the <i>Fukutin</i> gene causes a Walker-Warburg syndrome phenotype

Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom et al. · Journal of Medical Genetics · 2003 · 155 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Dirk J. Lefeber, Arjan P.M. de Brouwer, Éva Morava et al. · PLoS Genetics · 2011 · 154 citations · Full text

Medicine, Cardiology, Genetics +17

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Monica Frega, Katrin Linda, Jason M. Keller et al. · Nature Communications · 2019 · 140 citations · Full text

Life Sciences, Genetics, Neuroscience +17