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Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.
American Journal of Human Genetics|May 23, 2025
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.
Circulation Research|December 10, 2021
Common Genetic Variants Contribute to Risk of Transposition of the Great ArteriesDoris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, et al.
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