@article{priest2023oligogenic,
 abstract = {Background: Congenital heart disease (CHD) is highly heritable, but the power to identify inherited risk has been limited to analyses of common variants in small cohorts. Methods: We performed reimputation of 4 CHD cohorts (n=55 342) to the TOPMed reference panel (freeze 5), permitting meta-analysis of 14 784 017 variants including 6 035 962 rare variants of high imputation quality as validated by whole genome sequencing. Results: Meta-analysis identified 16 novel loci, including 12 rare variants, which displayed moderate or large effect sizes (median odds ratio, 3.02) for 4 separate CHD categ...},
 author = {MD James R. Priest and PhD Mengyao Yu and Matthew Aguirre and PhD Meiwen Jia and BS Ketrin Gjoni and PhD Aldo Cordova-Palomera and BS Chad Munger and PhD Dulguun Amgalan and MD PhD Alexandre Pereira and Dvm Catherine Tcheandjieu and PhD Christine Seidman and M. Seidman and PhD Martin Tristani-Firouzi and Priya Md and Priya Md and MC Srivastava and Milan Loos and P. Chami and P. Cordell and PhD Martina Dreßen and PhD Bertram Mueller-Myhsok and PhD Harald Lahm and PhD Markus Krane and Macy Pollard and PhD Jesse M. Engreitz and PhD Sarah A. Gagliano Taliun and PhD Bruce D. Gelb and M. Priest},
 doi = {10.1161/CIRCGEN.122.003968},
 journal = {Circulation: Genomic and Precision Medicine},
 pages = {258 - 266},
 title = {Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes},
 volume = {16},
 year = {2023}
}