De novo mutations in regulatory elements in neurodevelopmental disorders

We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We i...

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Veröffentlicht in:Nature
Hauptverfasser: Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V, FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5912909/
https://ncbi.nlm.nih.gov/pubmed/29562236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature25983
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