Studies
NHLBI TOPMed: Pediatric Cardiac Genomics Consortium (PCGC)'s Congenital Heart Disease Biobank
NHLBI TOPMed: Pediatric Cardiac Genomics Consortium (PCGC)'s Congenital Heart Disease Biobank
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Overview
Selected Publications (9)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Jason G. Homsy, Samir Zaidi, Yufeng Shen, et al.. (2015). Science. Cited 725 times.
https://doi.org/10.1126/science.aac9396
Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes
M. Larson, Larry D. Atwood, Emelia J. Benjamin, et al.. (2007). BMC Medical Genetics. Cited 200 times.
https://doi.org/10.1186/1471-2350-8-S1-S5
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
N. Akawi, J. McRae, Morad Ansari, et al.. (2015). Nature genetics. Cited 147 times.
https://doi.org/10.1038/ng.3410
The Congenital Heart Disease Genetic Network Study: Cohort description
Thanh T. Hoang, E. Goldmuntz, A. Roberts, et al.. (2018). PLoS ONE. Cited 95 times.
https://doi.org/10.1371/journal.pone.0191319
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
A. Guimier, George C Gabriel, F. Bajolle, et al.. (2015). Nature genetics. Cited 81 times.
https://doi.org/10.1038/ng.3376
Robust identification of mosaic variants in congenital heart disease
K. B. Manheimer, Felix Richter, L. Edelmann, et al.. (2018). Human Genetics. Cited 45 times.
https://doi.org/10.1007/s00439-018-1871-6
Genetics of congenital heart disease
J. Edwards, B. Gelb. (2016). Current Opinion in Cardiology. Cited 33 times.
https://doi.org/10.1097/HCO.0000000000000274
Oral Contraceptive Hypertension and Thromboembolism
W. Kannel. (1979). International Journal of Gynecology & Obstetrics. Cited 22 times.
https://doi.org/10.1002/j.1879-3479.1979.tb00951.x
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors
K. B. Manheimer, N. Patel, Felix Richter, et al.. (2017). bioRxiv. Cited 5 times.
https://doi.org/10.1002/humu.23419
