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2013
Sutherland M.J., Wang S., Quinn M.E., Haaning A., Ware S.M. Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning. (in press, Human Molecular Genetics)
Miller E.M., Wang, Y., Ware S.M., Genetic Counseling for Hypertrophic and Dilated Cardiomyopathy: Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families members. J. Genetic Counseling 22(2) 258-67, 2013.
Lalani S.R., Shaw C., Wang W., Patel A., Patterson L.W., Kolodziejska K., Szafranski P., Ou Z., Kang S.L., Jinnah A., Baycroft, A.M., Ali S., Malik, A., Hixson P., Potocki L., Lupski J., Stankiewicz P., Bacino C., Sawson B., Beaudet A.L., Boricha F.M., Whittaker R., Li C., Ware S.M., Cheung S.W., Jefferies J.L., Belmont J.W. Rare Recurrent DNA copy number variations associated with Syndromic Cardiovascular Malformations. European Journal of Human Genetics 21(2):173-81, 2013.
2012
Ryan T.D., Ware S.M., Lucky, A.W., Towbin J.A., Jefferies J.L., Hinton, RB. Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa. Circulation Heart Failure 5(5): e81-82, 2012.
McBride K.L. and Ware S.M. Modifying Mendel: Approached for Identification of Susceptibility Alleles for Human Cardiovascular Malformations. Circulation Cardiovascular Genetics 5:274-276, 2012.
Tariq M., Le T., Putnam P., Kindel S., Jamison C., Keddache M., Ware S.M. Targeted Capture and Massively Parallel Sequencing in Pediatric Cardiomyopathy: Development of Novel Diagnostics. Cardiogenetics 2(1) e7 p. 32-41, 2012.
Ware S.M., Jefferies J.L., New genetic insights into congenital heart disease. Journal of Clinical & Experimental Cardiology S8: 003, 2012.
Parrott A., Ware S.M. The Role of the Geneticist and Genetic Counselor in an ACHD Clinic. Progress in Pediatric Cardiology 34(1): 15-20, 2012.
Buchaklian A.H., Helbling D., Ware S.M., Dimmock D.P. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. Molecular Genetics and Metabolism 107: 92-94, 2012.
Kindel S.J., Miller E.M., Gupta M., Cripe L.H., Hinton R.B., Spicer R.L., Towbin J.A., Ware S.M. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. Journal of Cardiac Failure 18:396-403, 2012.
Czosek R.J., Miller E., Goldenberg P., Towbin J.A., Ware S.M., Cardiac Electrical System Involvement in Alstrom Syndrome: Uncommon Causes of Dilated Cardiomyopathies. Cardiogenetics 2;e2 p. 1-10, 2012.
Quinn M.E., Haaning A., Ware S.M. Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function. Human Molecular Genetics 21(8):1888-96, 2012. PMID: 22234993
Cast A.E., Gao C., Amack J.D., Ware S.M. An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis. Dev Biol 364:22-31, 2012.
Miller E., Hopkin R., Bao L., Ware S.M. Implications for genotype-phenotype predictions in Townes Brocks Syndrome: a case report of a novel SALL1 deletion and a review of the literature. American Journal of Medical Genetics A :158A:533-40, 2012.
Sheridan R.M., Michelfelder E.C., Choe K.A., Divanovic A., Liu C., Ware S.M., Stanek, J. Ductus Arteriosus Aneurysm with Massive Thrombosis of Pulmonary Artery and Maternal Mirror Syndrome. Pediatric and Developmental Pathology 15:79-85, 2012.
2011
Ware S.M. *, Gunay-Aygun, M., Hildebrandt F., Spectrum of Clinical Diseases Caused by Disorders of Primary Cilia. Proceedings of the American Thoracic Society 8(5):444-450, 2011. *corresponding author.
Tariq M., Belmont J.W., Lalani S., Smolarek T., Ware S.M. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011 Sep 21;12(9):R91. Highlighted in http://genomebiology.com/2011/12/9/407.
Bedard J.E.J., Haaning A.M., Ware S.M. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease patients. PLoS One 6(8):e23755. 2011.
Ware S.M. Genetic diagnosis in pediatric cardiomyopathy: clinical application and research perspectives. Progress in Pediatric Cardiology 31(2): 99-102. 2011.
Fakhro K.A., Choi M., Ware S.M., Belmont J.W., Towbin J.A., Lifton R.P., Khokha M.k., Bureckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci USA 108:2915-2920. 2011.
2010
Towbin J.A., Ware S.M., Jefferies J.L. Heart Transplants in pediatric patients: viral infection as a loss predictor. Future Cardiol. 6(6):735-41. 2010.
Czosek R.J., Haaning A., Ware S.M. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatric Research 68:275-280. 2010.
Hinton R.B., Michelfelder E.C., Marino B.S., Bove K.E., Ware S.M. A Fetus with hypertrophic cardiomyopathy, restrictive and single ventricle physiology, and a b-Myosin Heavy Chain mutation. Journal of Pediatrics 157:164-166. 2010.
Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 68:275-80. 2010.
Hinton RB, Michelfelder EC, Marino BS, Bove KE, Ware SM. A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. J Pediatr. 157:164-6. 2010.
2009
Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 151C:307-17. 2009.
Cripe LH, Ware SM, Hinton RB. Replacement of the aortic valve in a patient with mucolipidosis III. Cardiol Young. 19:641-3. 2009.
Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet A. 149A:887-93. 2009.
Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J MedGenet. 46:308-14. 2009.
Wang S, Ware SM. Use of FOXJ1CreER2T mice for inducible deletion of embryonic node gene expression. Genesis. 47:132-6. 2009.
2008
Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 18:861-71. 2008.
Ware SM, Quinn ME, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 73:165-70. 2008.
Other Significant Publications
