M. Hambrock

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

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

W. Lieb, B. Ceulemans, V. Kalscheuer, 2011, neurogenetics.

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

V. Kalscheuer, Gilda Stefanelli, V. Broccoli, 2012, Nature Cell Biology.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization

Constance Scharff, Andrea Köhler, Rainer Schneider, 2009, PloS one.