Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challengi...

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Hlavní autoři: Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135405/
https://ncbi.nlm.nih.gov/pubmed/24424126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.291
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