MartinaBruecknerMD

Professor, Pediatrics and Genetics, Yale University School of Medicine

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Office
800 Howard Ave
# Yale
New Haven, CT 06519
Phone+1 203-785-2140

Fax+1 203-785-6414

PubMed

2 citations
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
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
2 citations
Association of genetic and sulcal traits with executive function in congenital heart disease.
Lara Maleyeff, Jane W Newburger, David Wypij, Nina H Thomas, Evdokia Anagnoustou
Annals of Clinical and Translational Neurology. 2024-02-01

2023 ‘Top Doctors’ List Features Over 250 Yale Medicine PhysiciansMay 3rd, 2023
YSM Dean’s Workshop Highlights Collaborative Future of Genomic HealthcareJune 2nd, 2021

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