SELECTED PUBLICATIONS

Basson CT, Knowles WJ, Bell L, Albelda SM, Castronovo V, Liotta LA, Madri JA. Spatiotemporal segregation of endothelial cell integrin and non-integrin extracellular matrix binding proteins during adhesion events. J Cell Biol 1990;110:789-801.

Basson CT, Kocher O, Basson MD, Asis A, Madri JA. Differential modulation of vascular cell integrin and extracellular matrix expression in vitro by TGF ?1 correlates with reciprocal effects on cell migration. J Cellul Physiol 1992;153:118-128.

Johnson WC, Pagano TG, Basson CT, Madri JA, Gooley P, Armitage IM. Biologically active Arg-Gly-Asp oligopeptides assume a type II ?-turn in solution. Biochemistry 1993; 32(1):268-273.

Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT, Baker PB, Cody RJ, Fishman MC, Cox N, Kong A, Wooley CF, Seidman JG, Seidman CE. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nature Genetics 1994; 7:546-551.

Basson CT, Cowley GS, Solomon S, Weissman B, Poznanski AK, Traill TA, Seidman JG Seidman CE. The clinical and genetic spectrum of Holt-Oram syndrome. New Engl J Med 1994; 330(13): 885-891.

MacRae CA, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins HC, Anan R, Thierfelder L, McGarry K, Rowland E, McKenna WJ, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest 1995;96:1216-20.

Basson CT, Solomon SD, Weissman B, MacRae CA, Poznanski AK, Prieto F, de la Fuente SR, Pease WE, Levin SE, Holmes L, Seidman JG, Seidman CE. Genetic heterogeneity of heart-hand syndromes. Circulation 1995; 91(5):1326-1329.

Basson CT, MacRae CA, Schonberg-Fejzo M, Morton C, Genin A, Spinner N, Krug E, Seidman JG, Seidman CE. Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130. Genomics 1996; 35:628-631.

Basson CT, MacRae CA, Korf B, Merliss A. Genetic heterogeneity of familial atrial myxoma syndromes. Amer J Cardiol 1997;79(7):994-995.

Basson CT. Degenerate primer - vector PCR. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton, CC, Seidman CE, Seidman JG, Smith DR, eds. Current protocols in human genetics. NY: John Wiley & Sons; 1997: pp. 5.9.11-5.9.15.

Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins J, Soults J, Grayzel D, Kroumpouzou E, Traill TA, LeBlanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genetics 1997; 15(1):30-35.

Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B, Strauss AW, Seidman JG, Seidman CE. Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation, 1998; 97:2043-2048.

Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron B, Seidman JG, Seidman CE. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108-111.

Stratakis CA, Kirschner LS, Taymans S, Tomlinson IPM, Torpy DJ, Eccles DM, Theaker J, Houlston RS, Marsh DJ, Blouin JL, Antonarakis SE, Basson CT, Eng C, Carney, JA. Carney complex, Peutz-Jeghers syndrome, Cowden disease and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations but not genetic loci. J Clin Endocrin Metab 1998; 83:2972-2976.

Casey M, Mah C, Merliss AD, Kirschner LS, Taymans SE, Denio AE, Korf B, Irvine AD, Hughes A, Carney JA, Stratakis CA, Basson CT. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998;98:2560-2566.

Mah C, Vaughan CJ, Basson CT. Advances in the molecular genetics of congenital structural heart disease. Genetic Testing 1999; 3:157-172.

Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Periera A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont MEM, Muller CW, Seidman JG, Seidman CE. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci 1999;96:2919-2924.

Goldstein MM, Casey M, Carney JA, Basson CT. Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex). Am J Med Genet 1999;86:62-65.

Vaughan CJ, Weremowicz S, Goldstein MM, Casey M, Hart M, Hahn RT, Devereux R, Girardi L, Schoen FJ, Fletcher JA, Morton CC, Basson CT. A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis. Genes Chrom Cancer 2000;28:133-137.

Basson CT. Holt-Oram syndrome vs. Heart-Hand syndrome. Circulation 2000;101:e191.

Vaughan CJ, Gotto AM, Basson CT. The evolving role of statins in the management of atherosclerosis. J Amer Coll Cardiol 2000; 35:1-10.

Hatcher CJ, Basson CT. Holt-Oram syndrome and the TBX5 transcription factor in cardiogenesis. In: The molecular genetics of cardiac electrophysiology. (C. Berul and J Towbin eds.) Massachusetts: Kluwer Academic Publishers; 2000: pp. 297-315.

Basson CT, Vaughan CJ. Genetics of cardiovascular disease. In: Kelley?s Textbook of Internal Medicine. 4th Ed. (H.D. Humes and E. Nabel eds.) Philadelphia: Lippincott Williams & Wilkins; 2000: 569-578.

Basson CT. The shape of the heart. Nature Medicine 2000; 6:857.

Hatcher CJ, Kim MS, Basson CT. Atrial form and function: Lessons from human molecular genetics. Trends in Cardiovascular Medicine 2000;10:93-101.

Hatcher CJ, Goldstein MM, Mah CS, Delia CS, Basson CT. Identification and localization of TBX5 transcription factor during cardiac morphogenesis. Developmental Dynamics 2000; 219:90-95.

Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT. Mutations in the R1? regulatory subunit of protein kinase A cause familial cardiac myxomas and Carney complex. J Clin Invest 2000; 106:r31-r38.

Hatcher CJ, Kim MS, Mah CS, Goldstein MM, Wong B, Mikawa T, Basson CT. TBX5 transcription factor regulates cell proliferation during cardiogenesis. Developmental Biology 2001;230:177-188.

Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Dietz HC, Basson CT, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 2001;103:2461-2468.

Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 2001;103:2469-75.

Vaughan CJ, Delanty N, Basson CT. Do the statins afford neuroprotection in patients with cerebral ischemia and stroke? CNS Drugs 2001; 15:589-696.

Vaughan CJ, Basson CT. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. American Journal of Medical Genetics 2001;97:304-309.

Hatcher CJ, Basson CT. Getting the T-box dose right. Nat Med 2001; 7:11-12.

Vaughan CJ, Delanty N, Basson CT. Statin therapy and stroke prevention. Curr Opin Cardiol 2001;16:219-224.

Vaughan CJ, Veugelers M, Basson CT. Tumors and the heart: molecular genetic advances. Curr Opin Cardiol 2001;16:195-200.

Basson CT. A molecular basis for Wolff-Parkinson-White Syndrome. New Engl J Med 2001;334:1861-164.

Vaughan CJ, Veugelers, M, Basson CT. Genetic bases for familial cardiac myxoma. In: MDConsult - Cardiology (E. Braunwald, ed.) www.mdconsult.com. MD Consult LLC, 2001.

Basson CT, Aretz HT. A 27-year-old woman two intracardiac masses and a history of endocrinopathy. New Engl J Med 2002;346:1152-9.

Wang Q, Pyeritz R, Seidman CE, Basson CT. Genetic studies of cardiovascular disease. In: Cardiovascular Medicine 2nd Edition. (E.J. Topol ed.) Philadelphia: Lippincott-Raven; 2002.

Veugelers M, Vaughan CJ, Basson CT. Familial Cardiac Myxomas and Carney complex. In: The Genetic Basis of Human Cancer. 2nd Edition (B. Vogelstein, K. Kinzler eds.) New York: McGraw Hill, 2002.

Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT. Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome. J Cardiovasc Electrophys 2003;14:263-268.

Collavoli, A, Hatcher CJ, He J, Okin DA, Deo R, Basson CT. TBX5 nuclear localization is mediated by dual cooperative intramolecular signals. J Molec Cellular Cardiol 2003;35:1191-1195.

Hatcher, CJ, Basson CT. Modeling development of the epicardium and coronary vasculature: In vitro veritas? Circ Res 2003; 92:477-479.

Lerman BB, Basson CT. High-risk patients with ventricular preexcitation: A pendulum in motion. New Engl J Med 2003, 349:1787-1789.

Zhou H, Weskamp G, Sahin U, Chesneau V, Chiusarolo R, Hahn R, Wilkes D, Fisher P, Baron R, Manova K, Basson CT, Hempstead B, Blobel CP. Essential role for ADAM19 in cardiovascular morphogenesis, Molec Cell Biol 2004;24:96-104.

He J, McDermott DA, Song Y, Gilbert F, Kligman I, Basson CT. Preimplantation diagnosis of Holt-Oram syndrome and congenital heart disease. Amer J Med Genet 2004;126A:93-98.

Hatcher CJ, Diman N, Kim MS, Pennisi DA, Song Y, Goldstein MM, Mikawa T, Basson CT. A role for Tbx5 in proepicardial cell migration in cardiogenesis. Physiological Genomics 2004;18:129-140.

Vaughan CJ, Basson CT. Principles of human cardiovascular genetics. In: Molecular Basis of Cardiovascular Disease, A Companion to Braunwald's Heart Disease. 2nd Ed (K. Chien ed.) Phil.: WB Saunders, 2004.

Farr MJ, Basson CT. Sparking the failing heart. New Engl J Med 2004; 351:185-187.

Veugelers M, Bressan MA, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. New Engl J Med 2004;351:460-469.

Veugelers M, Wilkes D, Burton KA, McDermott DA, Song Y, Goldstein MM, LaPerle K, Vaughan CJ, O?Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GTC, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine A, McKnight GS, Basson CT. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci USA 2004;101:14222-14227.

Fraidenraich D, Stillwell E, Wilkes D, Manova K, Basson CT, Benezra R. Rescue of congenital cardiac malformations in Id knockout embryos by early injection of small numbers of embryonic stem cells. Science 2004;306:1-6.

Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genetics 2004: 36:1162-1164.

Bennett KR, Heath BJ, Creswell LL, Veugelers M, McDermott DA, Barksdale S, Goldstein MM, Basson CT. The Carney complex: unusual skin findings and recurrent cardiac myxoma. Arch Dermatol 2005; 141:916-917.

McDermott DA, Bressan MA, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St. John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric Research 2005; 58:981-986.

Wilkes D, McDermott DA, Basson CT. Clinical phenotypes and molecular genetic mechanisms of Carney complex. Lancet Oncol 2005;6:501-508.

Hatcher CJ, Basson CT. Taking a bite out of hypertrophy: soy diet and cardiac disease. J Clin Invest 2006; 116:16-19.

Wilkes D, Charitakis K, Basson CT. Inherited disposition to cardiac myxoma development. Nature Rev Cancer 2006;5:157-165.

Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia T, Goldmuntz E, McGee G, Sable C, Srivastava D, Webb KL. AHA Consensus Statement: The genetic basis for congenital heart disease: Current knowledge. Circulation, in press.

Bella J, Devereux RB, Basson CT. Epidemiology of Cardiac Hypertrophy and Failure. IN: Molecular Mechanisms for Cardiac Hypertrophy and Failure (ed. R. Walsh), 2006, in press.