Martina Brueckner
Professor of Pediatrics · Yale-New Haven Hospital
Credentials: · · ·
History
- Present
Yale-New Haven Hospital · Univ of Pittsburgh Sch of Med
- 1980–1984
- 1976–1980
Research
De novo mutations in histone-modifying genes in congenital heart disease
Nature · 2013 · 752 citations
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Nature Genetics · 2017 · 693 citations
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Science · 2015 · 685 citations
39 papers
35 papers
31 papers
30 papers
- JN
25 papers
24 papers
21 papers
21 papers · 13 as a resident
Grants
- 2026–2027
The Functional Screening of Congenital Hydrocephalus and Heart Disease Genes in Xenopus
National Institute of Child Health and Human Development · R56
PI · $499.7K · Yale University
- 2019–2026
Cilia in Heart Development and Disease
National Heart, Lung, and Blood Institute · R35
Contact PI · $5.2M · Yale University
- 2009–2025
Congenital Heart Disease Genetics and Clinical Outcomes
National Heart, Lung, and Blood Institute · U01
Contact PI · $5.9M · Yale University
- 2009–2020
Genetics and Genomics of Congenital Heart Disease and Associated Neurodevelopmental Abnormalities
National Heart, Lung, and Blood Institute · UM1
Contact PI · $2.2M · Yale University
Clinical trials
- 2010–2032
Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Principal investigator · Active not recruiting
Children's Hospital Medical Center, Cincinnati