Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is gaining attention, but the reported diagnosti...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M., Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688107/
https://ncbi.nlm.nih.gov/pubmed/31428121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00425
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