Selected Publications

Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L., Moss, A. J., Towbin, J. A., and Keating, M. T. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80, 805-811.

Wang, Q., Curran, M. E., Splawski, I., Connors, T. D., Burn, T. C., Millholland, VanRaay, T. J., Shen, J., de Jager, T., Schwartz, P. J., Towbin, J. A., Moss, A. J., Atkinson, D. L., Timothy, K. W., Vincent, G. M., Landes, G. M., and Keating, M. T. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genetics 12, 17-23.

Schulze-Bahr*, E., Wang, Q.*, Wedekind, H., Haverkamp, W., Chen, Q., Sun, Y., Rubie, C., Hordt, M., Towbin, J. A., Borggrefe, M., Assmann, G., Qu, X., Somberg, J., Breithardt, G., Oberti, C., and Funke, H. (1997) KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nature Genetics 17, 267-268. [*co-first author].

Chen, Q., Kirsch, G., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D., Moya, A., Borggrefe, M., Breithardt, G., Oritz-Lopez, R., Wang, Z., Anzalevitch, C., O'Brien, R. E., Schultz-Bahr, E., Keating, M. T., Towbin, J. A., and Wang, Q. (1998) Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392, 293-296.

Liu, W., Yang, J., Hu, D., Kang, C., Li, C., Zhang, S., Li, P., Chen, Z., Qin, X., Ying, K., Li, Y., Li, Y., Li, Z., Cheng, X., Li, L., Qi, Y., Chen, S., and Wang, Q. (2002) KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. Human Mutation 20: 475-476.

Chen, S., Chung, M. K., Martin, D., Rozich, R., Tchou, T. J., and Wang, Q. (2002) SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a Caucasian family.  J Medical Genetics 39: 913-915. 

Fan, C., Liu, M., and Wang, Q. (2003) Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem 278, 8780-8785.

Wang, L., Fan, C., Topol, S.E., Topol, E.J., and Wang, Q. (2003) Mutation of Transcription Factor MEF2A in an Inherited Disorder with Features of Coronary Artery Disease. Science 302, 1578-1581.

You, S., Archacki, S.A., Angheloiu, G., Moravec, C.S., Rao, S., Kinter, M., Topol, E.J., and Wang, Q. (2003) Proteomic approach to coronary arteriosclerosis indicates ferritin light chain as a significant marker: Evidence consistent with the iron hypothesis in atherosclerotic disease. Physiological Genomics 13, 25-30.

Archacki SR, Angheloiu G, Tian XL, Tan FL, DiPaola N, Shen GQ, Moravec C, Ellis S, Topol EJ, and Wang, Q. (2003) Identification of new genes differentially expressed in coronary artery disease by expression profiling.  Physiological Genomics 15: 65-74.

Tian, X., Yong, S., Wan, X., Wu, L., Chung, M. K., Tchou, P. J., Rosenbaum , D. S., van Wagoner , D. R., Kirsch, G. E., and Wang, Q. (2004) Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo. Cardiovascular Research 61, 256-267.

Wang, Q., Rao, S., Shen, G., Li, L., Moliterno, D. J., Newsby, L. K., Rogers, W. J., Cannata, R., Zirzow, E., Elston, R. C., and Topol, E. J. (2004) Premature myocardial infarction novel susceptibility locus on chromosome 1p34-36 identified by genome-wide linkage analysis. Am J Human Genetics 74: 262-271.

Tian, X.L., Kadaba, R., You, S.A., Liu, M., Timur, A.A., Yang, L., Chen, Q., Szafranski, P., Rao, S., Wu, L., Housman, D.E., DiCorleto, P.E., Driscoll, D.J., Borrow, J., and Wang, Q. (2004) Identification of an angiogenic factor that when mutated causes susceptibility to Klippel Trenaunay syndrome. Nature 427; 640-645.

Chen, S., Ondo, W.G., Rao, S., Li, L., Chen, Q., and Wang, Q. (2004) Genome-wide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Human Genetics, 74:876-885.

Jen, J.C., Chan, W., Bosley, T.M., Wan, J., Carr, J.R., Rub, U., Sharruck, D., Salamon, G., Kudo, L.C., Ou, J., Lin, D.C.M., Salih, M.A.M., Kansu, T., Dhalaan, H.A., Zayed, Z., MacDonaild, D.B., Stigsby, B., Plaitakis, A., Dretakis, E.K., Gottlob, I., Pieh, C., Traboulsi, E.I., Wang, Q., L, Wang., Andrews, C., Yanmada, K., Demer, J.L., Karim, S.S., Alger, J.R., Geschwind, D.H., Deller, T., Sicotte, N.L., Nelson, S.F., Baloh, R.W., and Engle, E.C. (2004) Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 304: 1509-1513.

Oberti, C., Wang, L., Li, L., Dong, J., Rao, S., Du, W., and Wang, Q.  (2004) Genome-Wide Linkage Scan Identifies a Novel Genetic Locus on Chromosome 5p13 for Neonatal Atrial Fibrillation Associated with Sudden Death and Variable Cardiomyopathy. Circulation 110:3753-3759.

Bhagavatula,, M.R.K., Fan C., Shen, G., Cassano, J., Plow, E.F., Topol, E.J., and Wang, Q. (2004) Transcription factor MEF2A mutations in patients with coronary artery disease. Human Molecular Genetics 13: 3181-3188.

Wang, Q., Liu, M., Xu, C., Tang, Z., Liao, Y., Du, R., Li, W., Wu, X., Wang, X., Liu, P., Zhang, X., Zhu, J., Ren, X., Ke, T., Wang Q.*, and Yang, J*. (2005) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. J Molecular Medicine 83: 203-208.

Du, W., Bautista, J.F., Yang, H., Diez-Sampedro, A., You, S., Wang, L., Kotagal, P., Luder, H.O., Shi, J., Cui, J., Richardson, G.B., and Wang, Q.K. (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nature Genetics 37:733-738.

Wu L, Yong SL, Fan C, Ni Y, Yoo S, Zhang T, Zhang X, Paz CO, Rho H, Ke T, Szafranski P, Jones S, Chen Q, and Wang QK (2007) Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav1.5. J Biol Chem 283:6968-78.

Shen G, Li L, Girelli D, Seidelmann SB, Rao S, Fan C, Park JE, Xi Q, Li J, Hu Y, Olivieri O, Marchant K, Barnard J, Corrocher R, Elston R, Cassano J, Henderson S, Hazen SL, Plow EF, Topol EJ, and Wang QK (2007) An LRP8 variant is associated with familial and premature CAD and MI.  Am J of Human Genetics 81:780-791. 

Liu P, Yang Q, Wang X, Feng A, Yang T, Yang R, Wang P, Yuan M, Liu M, Liu J, and Wang QK. (2008) Identification of a Novel Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3-q24.2. J Investigative Dermatology 128; 1418-1422.

Tian XL, Cheng Y, Zhang T, Liao MLC, Yong SL, and Wang QK. (2007) Optical mapping of ventricular arrhythmias in LQTS mice with SCN5A mutation N1325S.  Biochemical and Biophysical Research Communications 352:879-883.

Zhang T, Yong SL, Tian XL, and Wang QK. (2007) Cardiac-specific overexpression of SCN5A gene leads to shorter PR interval and P wave in transgenic mice.  Biochemical and Biophysical Research Communications 355:444-450. 

Shen G, Li L, Rao S, Abdullah, Ban JM, L BS, Park JE, and Wang QK. (2008) Four SNPs on Chromosome 9p21 in a South Korean Population Implicate a Genetic Locus that Confers High Cross-Race Risk for Development of Coronary Artery Disease. Arteriosclerosis, Thrombosis, and Vascular Biology 28:360-365.

Li H, Li C, Lu Q, Ting S, Ke T, Li CW, M Yuang, J Liu, Ren X, Zhang Z, Zeng S, Wang QK, and Liu M.  (2008) Cataract mutation P20S of aB-crystallin impairs chaperone activity of aA-crystallin and induces apoptosis of human lens epithelial cells.  BBA-Molecular Basis of Disease 1782(5):303-9.    

Seidelmann SB, Li L, Shen GQ, Topol EJ, and Wang QK.  (2008) Identification of a novel locus for triglyceride on chromosome 1p31-32 in families with premature CAD and MI.  J Lipid Research 49, 1034-1038.

Liu P, Zhang S, Yao Q, Liu X, Wang X, Xiong K, Liu J, Huang C, Huang X, Wang P, Yuang M, Liu J, Wang QK, Liu M.  (2008) Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1.  Human Genetics 123:507-13. 

Abdullah KG, Li L, Shen G, Hu Y, Yang Y, MacKinlay KG, Topol EJ, and Wang QK. (2008) Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).  Annals of Human Genetics 72:654-657. 

Hu Y, Li L, Seidelmann SB, Timur AA, Shen PH, Driscoll, DJ, and Wang QK. (2008) Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. Annals of Human Genetics 72:636-643. 

Zhang X, Chen S, Zhang L, Liu M, Redfearn, Bryant, RM, Oberti C, Vincent GM, and Wang QK. (2008) Protective effect of KCNH2 single nucleotide polymorphism K897T in an LQTS family and identification of novel KCNQ1 and KCNH2 mutations.  BMC Medical Genetics 9:87. 

Dai XH, Chen WW, Wang X, Zhu QH, Li C, Li L, Liu M, Wang QK*, and Liu JY*. (2008) A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33. Human Genetics 124:423-9. 

Zhang X, Chen S, Yoo S, Chakravarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q, and Wang QK. (2008) Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.  Cell 135:1017-1027.   PMID: 19070573

Martinelli N, Olivieri O, Shen GQ, Trabetti E, Pizzolo, F, Busti F, Friso S, Bassi A, Li L, Hu, Y, Pignatti PF, Corrocher R, Wang QK, Girelli D. (2009) Additive effect of LRP8/APOER2 R952Q variant to APOE epsilon2/epsilon3/epsilon4 genotype in modulating apolipoprotein E concentration and the risk of myocardial infarction: a case-control study.  BMC Medical Genetics 10:41. PMID: 19439088

Fan C, Ouyang P, Timur AA, He P, You SA, Hu Y, Ke T, David DJ, Chen Q, and Wang QK. (2009) Novel roles of gata1 in regulation of angiogenic factor AGGF1 and endothelial cell function. J Biol Chem 284:23331-43.  PMID: 19556247

Fan C, Chen Q, Wang QK.  (2009) Functional role of transcriptional factor TBX5 in Pre-mRNA splicing and Holt-Oram syndrome via assocation with SC35. J Biol Chem 284:25653-63. PMID: 19648116

Shi L, Li C, Wang F, Wang C, Xu P, Wang X, Li D, Wang X, Xiong Y, Bai M, Liu J, Ren X, Tu X, and Wang QK. (2009) Assessment of association of rs2200733 at 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population.  Human Genetics 126:843-849. PMID: 19707791

Ke T, Gomez CR, Mateus HE, Castano JA, and Wang QK. (2009) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. J Human Genetics 54:660-664. PMID: 19779499

Zhang T, Yong SL, Drinko JK, Popovic ZB, Shryock JC, Belardinelli L, and Wang QK. (2009) LQTS Mutation N1325S in Cardiac Sodium Channel Gene SCN5A Causes Cardiomyocyte Apoptosis, Cardiac Fibrosis and Contractile Dysfunction in Mice.  International J Cardiology [Epub ahead of print] PMID: 19762097