Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

Chen Qian, Yongchuan Zhu, Jing Yu et al. · Journal of Neuroscience · 2010 · 179 citations · Full text

Rett Syndrome, Neuronal Morphogenesis, Cellular Neurobiology +17

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi et al. · Nature Genetics · 2010 · 144 citations · Full text

Intellectual Impairment, Genetic Disorder, Genetics +6

Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome

Bianca De Filippis, Alessia Fabbri, Daiana Simone et al. · Neuropsychopharmacology · 2011 · 96 citations · Full text

Molecular Neuroscience, Behavioral Neuroscience, Rett Syndrome +7

IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses

Hiroyuki Sakagami, Masashi Sanda, Masahiro Fukaya et al. · Neuroscience Research · 2007 · 83 citations

Synaptic Plasticity, Signal Transduction, Molecular Neuroscience +10