Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Calcium Influx via the NMDA Receptor Induces Immediate Early Gene Transcription by a MAP Kinase/ERK-Dependent Mechanism

Zhengui Xia, Henryk Dudek, Cindy K. Miranti et al. · Journal of Neuroscience · 1996 · 792 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino et al. · European Journal of Human Genetics · 2009 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome

Juan I. Young, Huda Y. Zoghbi · The American Journal of Human Genetics · 2004 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

Jens Herrmann, Pallister Pd, W Tiddy et al. · PubMed · 1975 · 142 citations

Medicine, Genetics, Pediatrics +12