MartinaBruecknerMD
Pediatric Cardiology • New Haven, CTProfessor, Pediatrics and Genetics, Yale University School of Medicine
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Office
1 Park St
New Haven, CT 06504Phone+1 203-785-4081Fax+1 203-737-2786- Is this information wrong?
Education & Training
Yale-New Haven Medical CenterFellowship, Pediatric Cardiology, 1987 - 1990
UPMC Children's Hospital of PittsburghResidency, Pediatrics, 1984 - 1987
University of Virginia School of MedicineClass of 1984
Certifications & Licensure
CT State Medical License 1988 - 2024
PA State Medical License 1985 - 1987- American Board of Pediatrics Pediatric Cardiology
Clinical Trials
- Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) Start of enrollment: 2010 Nov 15
Publications & Presentations
PubMed
- De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.Xueyang Pan, Alice M Tao, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Rachel Slaugh, Sarah Drewes Williams, Lauren O'Grady, Oguz Kanca, Richard Person, Melissa T Carter, ...> ;American Journal of Human Genetics. 2024 Apr 4
- Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.O'Brien, M., Pryzhkova, M., Lake, E., Mandino, F., Shen, X., Atkins, A., Xu, M., Ji, W., Konstantino, M., Jordan, P., Karnik, R., Brueckner, M., Ment, L., Khokha, M.> ;International Journal of Molecular Sciences. 2023 Dec 28
- The H2Bub1-deposition complex is required for human and mouse cardiogenesis.Syndi Barish, Kathryn Berg, Jeffrey Drozd, Labeeqa Khizir, Lauren K Wasson, Christine E Seidman, Jonathan G Seidman, Sidi Chen, Martina Brueckner, Isabella Berglund-Brown> ;Development. 2023 Dec 1
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Press Mentions
- 2023 ‘Top Doctors’ List Features Over 250 Yale Medicine PhysiciansMay 3rd, 2023
- YSM Dean’s Workshop Highlights Collaborative Future of Genomic HealthcareJune 2nd, 2021
Grant Support
- Cilia in heart development and diseaseNIH-NHLBI2019–2024
- Genetics and Genomics of Congenital Heart Disease and Associated Neurodevelopmental AbnormalitiesNIH-NHLBI2009–2020
- Cilia In Cardiac MorphogenesisNational Heart, Lung, And Blood Institute2009–2012
- Genetic Determinants Of Human Heterotaxy And Aortic Arch MalformationNational Heart, Lung, And Blood Institute2009–2011
- Origin Of Vertebrate Left-Right AsymmetryEunice Kennedy Shriver National Institute Of Child Health &Human Development2004–2008
- Dynein And The Generation Of LR Pattern FormationEunice Kennedy Shriver National Institute Of Child Health &Human Development1998–2000
- Genetic Control Of Cardiac And Visceral AsymmetryNational Heart, Lung, And Blood Institute1990–1994
Other Languages
- German
Hospital Affiliations
Yale-New Haven HospitalNew Haven, Connecticut
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