Concepedia

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

Yu An, Linna Zhang, Wenwen Liu, Yunyun Jiang, Chen Xue, Xiaoping Lan, Gan Li, Qiang Hang, Jian Wang, James F. Gusella,

Human Genetics · 2020 · 46 citations · 37 references

DOI

Concepts

References

37

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

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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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ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations

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