M Hambrock
Max Planck Institute for Molecular Genetics(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Chromatin Remodeling and Cancer, RNA modifications and cancer
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons(2012)274 cited
- → ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity(2013)90 cited
- → Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features(2011)35 cited
- → Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization(2009)27 cited
- Next-generation sequencing in 248 families with X-linked intellectual disability(2011)
- Update on X-linked intellectual disability(2015)
- Systematic mutation search in families with X-linked intellectual disability by nextgeneration sequencing(2011)
- Massively parallel sequencing in >250 families with X-linked intellectual disability(2011)