Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes...

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Detalles Bibliográficos
Autores principales: Geisheker, Madeleine R., Heymann, Gabriel, Wang, Tianyun, Coe, Bradley P., Turner, Tychele N., Stessman, Holly A.F., Hoekzema, Kendra, Kvarnung, Malin, Shaw, Marie, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Thompson, Elizabeth M., Haan, Eric, Guo, Hui, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Vandeweyer, Geert, Alberti, Antonino, Avola, Emanuela, Vinci, Mirella, Giusto, Stefania, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Michaelson, Jacob J., Sedlacek, Zdenek, Santen, Gijs W.E., Peeters, Hilde, Hakonarson, Hakon, Courchesne, Eric, Romano, Corrado, Kooy, R. Frank, Bernier, Raphael A., Nordenskjöld, Magnus, Gecz, Jozef, Xia, Kun, Zweifel, Larry S., Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539915/
https://www.ncbi.nlm.nih.gov/pubmed/28628100
http://dx.doi.org/10.1038/nn.4589

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539915/
https://www.ncbi.nlm.nih.gov/pubmed/28628100
http://dx.doi.org/10.1038/nn.4589

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