Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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Towards a proteome-scale map of the human protein–protein interaction network

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Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, Xin He, Arthur P. Goldberg et al. · Nature · 2014 · 2.9K citations · Full text

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