Concepedia

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Vandana Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J. Todd, Lindsay C. Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F. Clarke, Basil T. Darras,

The American Journal of Human Genetics · 2013 · 162 citations · 29 references

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29

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

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

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.1K 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

, , +12

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

Kristen L. Nowak, Duangrurdee Wattanasirichaigoon, Hans H. Goebel et al. · Nature Genetics · 1999 · 398 citations

, , +11

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

Nigel G. Laing, Steve D. Wilton, P. Anthony Akkari et al. · Nature Genetics · 1995 · 355 citations

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