Understanding the genetic basis of congenital heart disease and the molecular pathways regulating normal and abnormal cardiac development. We have identified familial cases of congenital heart disease and used traditional linkage studies to discover novel genetic etiologies of human congenital cardiac malformations. In addition, we are interesting in understanding how these mutations disrupt normal cardiac development and are generating mouse models to gain insight into the molecular basis of congenital heart disease.
RESEARCH INTERESTS
Genetics of congenital heart disease
Molecular basis of normal and abnormal cardiac development
RECENT PUBLICATIONS
Garg, V., "Insights into the Genetic Basis of Congenital Heart Disease" Cellular Molecular Life Sciences, 63(10):1141-1148, 2006
Garg, V, "Molecular Genetics of Aortic Valve Disease" Curr Opin in Cardiology, 21(3):180-184, 2006
Schluterman, M.K., Krysiak, A.E., Kathiriya, I.S., Abate, N., Chandalia, M., Srivastava, D., and Garg, V., "Screening and Biochemical Analysis of GATA4 Sequence Variations in Patients with Congenital Heart Disease" Am J Med Genet A, 143(8):817-823, 2007
Tomita-Mitchell, A., Maslen, C.L., Morris, C.D., Garg, V., and Goldmuntz, E., "GATA4 Sequence Variants in Patients with Congenital Heart Disease" J Med Genet, 44(12):779-783, 2007
Richards, A., Jaeckle, L., Nichols, H., Crider, B., Elder, F., Hauser, N., Zinn, A.R., and Garg, V., "Cryptic chromosomal abnormalities identified in children with congenital heart disease and additional birth anomalies" Pediatr Res, 2008
SIGNIFICANT PUBLICATIONS
Yamagishi H, Garg V, Matsuoka R, Thomas T and Srivastava D, "A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects" Science, 283:1158-1161, 1999
Garg, V., Yamagishi, C., Hu, T., Kathiriya, I.S., Yamagishi, H., and Srivastava, D., "Tbx1, a DiGeorge syndrome candidate gene, is regulated by Sonic Hedgehog during pharyngeal arch development" Developmental Biology, 235:62-73, 2001
Garg, V., Kathiriya, I.S., Barnes, R., Schluterman, M.K., King, I.N., Butler, C. A., Rothrock, C.R., Eapen, R.S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J.C., and Srivastava, D, "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5" Nature, 424(6947):443-447, 2003
Garg, V., Muth, A.N., Ransom, J.F., Schluterman, M.K., Barnes, R., King, I.N., Grossfeld, P.D., and Srivastava, D, "Mutations in NOTCH1 Cause Aortic Valve Disease" Nature, 437(7056):270-74, 2005
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