Martina Brueckner

Yale University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

44h-index10.5kcitations120works2.72yr avg
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Research Topics

Congenital heart defects research(72), Congenital Heart Disease Studies(45), Genetic and Kidney Cyst Diseases(24), Genomics and Rare Diseases(18), Developmental Biology and Gene Regulation(14)

Publications119 total

Abstract 4363833: Impact of Damaging Genetic Variants on Right Ventricular Function in Tetralogy of Fallot
Circulation·2025
Abstract 4359742: Thrombophilia Variants Do Not Predict Thrombotic Events in Congenital Heart Disease: Insights from the Pediatric Cardiac Genomics Consortium
Circulation·2025
Endocardial primary cilia and blood flow regulate EndoMT during endocardial cushion development
Nature Cardiovascular Research·2025Open Access
Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing
BMC Medical Genomics·2025Open Access
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery
Nature Communications·2025· 1 citedOpen Access
Machine Learning to Infer Neurocognitive Testing Scores Among Adolescents and Young Adults with Congenital Heart Disease
2025Open Access
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Proceedings of the National Academy of Sciences·2025· 15 citedOpen Access
Recessive genetic contribution to congenital heart disease in 5,424 probands
Proceedings of the National Academy of Sciences·2025· 9 citedOpen Access
Modeling <i>SMAD2</i> Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis
Journal of the American Heart Association·2025· 3 citedOpen Access
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact
iScience·2024· 2 citedOpen Access
Endocardial primary cilia and blood flow are required for regulation of EndoMT during endocardial cushion development
2024Open Access
Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery
2024· 2 citedOpen Access
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
The American Journal of Human Genetics·2024· 8 citedOpen Access
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease
Proceedings of the National Academy of Sciences·2024· 1 citedOpen Access
Using Machine Learning to Predict Noncoding Variant Associations with Sulcal Patterns in Congenital Heart Disease
SSRN Electronic Journal·2024Open Access
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
International Journal of Molecular Sciences·2023· 4 citedOpen Access
The H2Bub1-deposition complex is required for human and mouse cardiogenesis
Development·2023· 4 citedOpen Access
Association of genetic and sulcal traits with executive function in congenital heart disease
Annals of Clinical and Translational Neurology·2023· 6 citedOpen Access
Epithelial-Mesenchymal Cross-Talks in Murine Models of Renal Ciliopathy
Journal of the American Society of Nephrology·2023
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
Physiological Genomics·2023· 7 citedOpen Access
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Frequent Co-authors

Wendy K. Chung(18), Bruce D. Gelb(17), Richard P. Lifton(16), Elizabeth Goldmuntz(15), Christine E. Seidman(15), George A. Porter(10), Jonathan G. Seidman(10), Yufeng Shen(10), Jason Homsy(9), Steven R. DePalma(8), Jane W. Newburger(8), Richard Kim(7), Samir Zaidi(6), Jonathan R. Kaltman(6), Amy E. Roberts(6), Sarah U. Morton(6), Anna Giardini(6), H. Joseph Yost(6), Martin Tristani‐Firouzi(6), Joshua Gorham(6)