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CRESTing the ALS mountain

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Chesi et al. use exome sequencing of trios consisting of subjects with amyotrophic lateral sclerosis and their parents to find de novo variants in 25 genes, one of which is the chromatin regulator SS18L1 (CREST).

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Figure 1: Exome sequencing of a disease trio to systematically identify de novo coding mutations.

Katie Vicari

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Authors and Affiliations

  1. Alan E. Renton and Bryan J. Traynor are in the Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.,

    Alan E Renton & Bryan J Traynor

  2. Bryan J. Traynor is in the Department of Neurology, Brain Science Institute, Johns Hopkins Hospital, Baltimore, Maryland, USA.,

    Bryan J Traynor

Authors
  1. Alan E Renton
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  2. Bryan J Traynor
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Correspondence to Alan E Renton.

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Competing interests

Bryan Traynor has a patent pending on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C90RF72

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Renton, A., Traynor, B. CRESTing the ALS mountain. Nat Neurosci 16, 774–775 (2013). https://doi.org/10.1038/nn.3444

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