Concepedia

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry,

The American Journal of Human Genetics · 2015 · 157 citations · 40 references

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References

40

Copy number variation detection and genotyping from exome sequence data

Niklas Krumm, Peter H. Sudmant, Arthur Ko et al. · Genome Research · 2012 · 676 citations · Full text

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The Neuronal Channel NALCN Contributes Resting Sodium Permeability and Is Required for Normal Respiratory Rhythm

Boxun Lu, Yanhua Su, Sudipto Das et al. · Cell · 2007 · 387 citations · Full text

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Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

Joseph B. Hiatt, Colin C. Pritchard, Stephen J. Salipante et al. · Genome Research · 2013 · 348 citations · Full text

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Genetic analysis of crawling and swimming locomotory patterns in <i>C. elegans</i>

Jonathan T. Pierce, Beth L. Chen, James J. Mun et al. · Proceedings of the National Academy of Sciences · 2008 · 293 citations · Full text

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Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Reha M. Toydemir, Ann Rutherford, Frank G. Whitby et al. · Nature Genetics · 2006 · 286 citations

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