Emilia K. Bijlsma

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier, Eiko K. de Jong, Markus Zweier et al. · The American Journal of Human Genetics · 2009 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 323 citations · Full text

Medicine, Molecular Genetics, Psychiatry +5

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Markus Zweier, Anne Gregor, Christiane Zweier et al. · Human Mutation · 2010 · 181 citations

Life Sciences, Genetics, Molecular Genetics +16

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M. Doornbos, Birgit Sikkema‐Raddatz, Claudia A.L. Ruijvenkamp et al. · European Journal of Medical Genetics · 2009 · 167 citations

Life Sciences, Genetics, Psychiatry +9