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Nature Communications|July 10, 2025
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgeryW Scott Watkins, Edgar J Hernandez, Thomas A Miller, et al.
Elife|October 15, 2020
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragmArun Sharma, Lauren K Wasson, Jon Al Willcox, et al.
Circulation. Genomic and Precision Medicine|April 7, 2023
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease PhenotypesMengyao Yu, Matthew Aguirre, Meiwen Jia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2022
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohortJosephina A N Meester, Silke Peeters, Lotte Van Den Heuvel, et al.
Scientific Reports|October 23, 2020
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndromeCristina E Trevino, Aaron M Holleman, Holly Corbitt, et al.
Circulation. Genomic and Precision Medicine|February 21, 2023
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic StudyEmily L Griffin, Shannon N Nees, Sarah U Morton, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, et al.
Circulation Research|February 9, 2021
Mechanisms of Congenital Heart Disease Caused by NAA15 HaploinsufficiencyTarsha Ward, Warren Tai, Sarah Morton, et al.
Circulation. Genomic and Precision Medicine|August 20, 2020
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart DiseaseMarko T Boskovski, Jason Homsy, Meena Nathan, et al.
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