Concepedia

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Lin Yang, Yanting Kong, Xinran Dong, Liyuan Hu, Yifeng Lin, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang,

Genetics in Medicine · 2018 · 113 citations · 20 references

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20

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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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

William McLaren, Bethan Pritchard, Daniel Ríos et al. · Bioinformatics · 2010 · 1.7K citations · Full text

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 498 citations

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