Concepedia

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Valeswara‐Rao Gazula, Maile R. Brown, Maéva Langouët, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio,

Nature Genetics · 2012 · 528 citations · 41 references

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41

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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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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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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Optimized survival of hippocampal neurons in B27‐supplemented neurobasal™, a new serum‐free medium combination

Gregory J. Brewer, John R. Torricelli, E. K. Evege et al. · Journal of Neuroscience Research · 1993 · 2.3K citations

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O’Roak, Pelagia Deriziotis, Choli Lee et al. · Nature Genetics · 2011 · 1.2K citations · Full text

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