Melanie Bienek

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

Life Sciences, Genetics, Molecular Genetics +12

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Involvement of the kinesin family members <i>KIF4A</i> and <i>KIF5C</i> in intellectual disability and synaptic function

Marjolein H. Willemsen, Wei Ba, W.M. Wissink-Lindhout et al. · Journal of Medical Genetics · 2014 · 104 citations · Full text

Life Sciences, Genetics, Neuroscience +17

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Hiromi Hirata, Indrajit Nanda, Anne van Riesen et al. · The American Journal of Human Genetics · 2013 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +15