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

Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence

Cornelis Murre, Patrick Page-McCaw, Harald Vaessin et al. · Cell · 1989 · 1.9K citations

Life Sciences, Biology, Molecular Biology +12

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

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Christelle M. Durand, Catalina Betancur, Tobias M. Boeckers et al. · Nature Genetics · 2006 · 1.6K citations · Full text

Life Sciences, Genetics, Neuroscience +12

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Joseph Glessner, Kai Wang, Guiqing Cai et al. · Nature · 2009 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bruchpilot, a Protein with Homology to ELKS/CAST, Is Required for Structural Integrity and Function of Synaptic Active Zones in Drosophila

Dhananjay Wagh, Tobias M. Rasse, Esther Asan et al. · Neuron · 2006 · 952 citations · Full text

Life Sciences, Neurobiology, Neuroscience +11