Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo...

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Detalles Bibliográficos
Autores principales: Wilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704398/
https://www.ncbi.nlm.nih.gov/pubmed/29179772
http://dx.doi.org/10.1186/s13073-017-0498-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704398/
https://www.ncbi.nlm.nih.gov/pubmed/29179772
http://dx.doi.org/10.1186/s13073-017-0498-x

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