A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death.
Article in Genetics in Medicine (May 2024)
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Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China
Article in Frontiers in Genetics (January 2024)
High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia
Preprint in medRxiv (January 2024)