Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

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The mutational constraint spectrum quantified from variation in 141,456 humans

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The contribution of de novo coding mutations to autism spectrum disorder

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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