Ronald J. Wapner

The paper identifies genetic variants associated with placental abnormalities in stillbirths by analyzing exome sequencing data from placental and fetal samples.

This study predicts preeclampsia using first trimester vaginal microbiome data with machine learning, achieving an auROC of 0.78 in the training set and 0.80 in an independent cohort.

This study quantifies uterine and cervical structural and biomechanical changes across pregnancy using ultrasound and aspiration measurements in 47 low-risk pregnancies.

This study identifies RERE as a regulator of lymphatic endothelial cell proliferation and survival, linking its loss to cystic lymphatic malformations through altered Notch signaling and lymphangiogenic gene expression.

This study validates a noninvasive prenatal genetic test using single trophoblast analysis, showing high concordance with CVS/amniocentesis for aneuploidy and deletions/duplications.

This study finds that 1.3% of preterm infants have genetic disorders, with higher rates in those who died or had severe morbidity, and identifies specific disorders linked to increased morbidity and mortality.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

The paper investigates how genetic variants affect gene expression and DNA methylation in human placentas, revealing interaction profiles and providing a reference for future studies.