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Office
800 Howard Ave
# Yale
New Haven, CT 06519Phone+1 203-785-2140Fax+1 203-785-6414
Education & Training
- Yale-New Haven Medical CenterFellowship, Pediatric Cardiology, 1987 - 1990
- UPMC Medical EducationResidency, Pediatrics, 1984 - 1987
- University of Virginia School of MedicineClass of 1984
Certifications & Licensure
- CT State Medical License 1988 - 2025
- 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
- Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.Enrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, Martina Brueckner, John Cleveland
Iscience. 2025-02-21 - 2 citationsDe 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
American Journal of Human Genetics. 2024-04-04 - Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.Ketu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, Octavian Henegariu, Sheng Chih Jin
Proceedings of the National Academy of Sciences of the United States of America. 2024-03-19
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
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