Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

OBJECTIVE: The purpose of this study was to explore the diagnostic yield and clinical utility of trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging. METHODS: In this observational study, we analyzed the fi...

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Detalles Bibliográficos
Autores principales: Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., van Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, van Zelst‐Stams, Wendy A. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497059/
https://www.ncbi.nlm.nih.gov/pubmed/32333414
http://dx.doi.org/10.1002/pd.5717

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