Concepedia

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Satoko Miyatake, Satomi Mitsuhashi, Yukiko Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, K Yatabe, Yuzo Tanaka, Katsuhisa Ogata,

The American Journal of Human Genetics · 2016 · 81 citations · 34 references

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34

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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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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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations

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Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Duangrurdee Wattanasirichaigoon, Hans H. Goebel, Matthew C. J. Wilce et al. · Nature Genetics · 1999 · 401 citations

, , +13

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

Nigel G. Laing, P. Anthony Akkari, S.M. Dorosz et al. · Nature Genetics · 1995 · 355 citations

, , +8