Concepedia

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi, Pamela Keagle, Peter C. Sapp, Katarzyna Piotrowska, Patrick Lowe, Max Koppers, Diane McKenna‐Yasek, Desiree M. Baron,

Nature · 2012 · 599 citations · 32 references

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References

32

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K 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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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

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SOAP2: an improved ultrafast tool for short read alignment

Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Jemeen Sreedharan, Ian P. Blair, Vineeta B. Tripathi et al. · Science · 2008 · 2.6K citations · Full text

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