Diagnostic value of partial exome sequencing in developmental disorders

Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Men...

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Bibliographic Details
Published in:PLoS One
Main Authors: Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas
Format: Artigo
Language:Inglês
Published: Public Library of Science 2018
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6084857/
https://ncbi.nlm.nih.gov/pubmed/30091983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0201041
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