☆ 3.9 Article

Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!

FETAL AND PEDIATRIC PATHOLOGY (2023)

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Najim Lahrouchi et al.

Summary: Through whole-exome sequencing of 2718 patients with congenital heart disease, the study found that PLD1 gene variants are associated with cardiac valve defects and isolated neonatal cardiomyopathy. Some variants were overrepresented in critical protein regions, leading to reduced enzymatic activity and decreased endothelial-mesenchymal transition.

JOURNAL OF CLINICAL INVESTIGATION (2021)

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Article Acoustics

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect

F. Qiao et al.

Summary: The study evaluated the potential diagnostic yields of CMA and ES for different CHD subgroups. It found that the comprehensive use of CMA and ES can provide effective genetic diagnosis for fetuses with CHD.

ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2021)

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Article Genetics & Heredity