Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

We combined de novo mutation (DNM) data from 10,927 cases of developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive mutations. Of these genes, 124 reach exome-wide significance (p < 5 × 10(−7)) for DNM. In...

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Detalles Bibliográficos
Autores principales: Coe, Bradley P., Stessman, Holly A.F., Sulovari, Arvis, Geisheker, Madeleine R., Bakken, Trygve E., Lake, Allison M., Dougherty, Joseph D., Lein, Ed S., Hormozdiari, Fereydoun, Bernier, Raphael A., Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309590/
https://www.ncbi.nlm.nih.gov/pubmed/30559488
http://dx.doi.org/10.1038/s41588-018-0288-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309590/
https://www.ncbi.nlm.nih.gov/pubmed/30559488
http://dx.doi.org/10.1038/s41588-018-0288-4

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