Concepedia

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rosa Rademakers, Matt Baker, Alexandra M. Nicholson, Nicola J. Rutherford, NiCole A. Finch, Alexandra I. Soto‐Ortolaza, Jennifer Lash, Christian Wider, Aleksandra Wojtas, Mariely DeJesus‐Hernandez,

Nature Genetics · 2011 · 579 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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Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Andreas Gnirke, Alexandre Melnikov, Jared Maguire et al. · Nature Biotechnology · 2009 · 1.5K citations · Full text

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Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant P. Christman et al. · The American Journal of Human Genetics · 2002 · 700 citations · Full text

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann, Marjo S. van der Knaap · Neurology · 2009 · 550 citations · Full text

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