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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
PURPOSE: For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic yield for this clinical indication. Our objective was to compare the yield o...
Autores principales: | Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831729/ https://www.ncbi.nlm.nih.gov/pubmed/31182824 http://dx.doi.org/10.1038/s41436-019-0554-6 |
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