Clinical Utility of Exome Sequencing in Infantile Heart Failure

PURPOSE: Pediatric cardiomyopathy is rare, has a broad differential diagnosis, results in high morbidity and mortality, and has sub-optimal diagnostic yield using next generation sequencing panels. Exome sequencing has reported diagnostic yields ranging from 30-57% for neonates in intensive care uni...

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Bibliografiset tiedot
Julkaisussa:Genet Med
Päätekijät: Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2019
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7339672/
https://ncbi.nlm.nih.gov/pubmed/31527676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0654-3
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