Concepedia

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, Masaaki Shiina, Mitsuhiro Kato, Hideki Hoshino, Hiroshi Terashima, Hitoshi Osaka, Shinichi Nakamura, Jun Tohyama,

The American Journal of Human Genetics · 2013 · 239 citations · 29 references

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29

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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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.8K citations · Full text

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Crystal structure of the β2 adrenergic receptor–Gs protein complex

Søren G. F. Rasmussen, Brian T. DeVree, Yaozhong Zou et al. · Nature · 2011 · 3.1K citations · Full text

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Predicting Changes in the Stability of Proteins and Protein Complexes: A Study of More Than 1000 Mutations

Raphaël Guérois, Jens Erik Nielsen, Luís Serrano · Journal of Molecular Biology · 2002 · 1.8K citations

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