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Suzanne Hart, Ph.D.

Associate Investigator, Medical Genetics Branch
Deputy Director, Medical Genetics Residency and Fellowship Training Programs

Selected Publications

Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. A mutation in the SOS1 gene causes hereditary gingival fibromatosis. Am J Hum Genet, 70:943-54. 2002. [PubMed]

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet, 39:882-92. 2002. [PubMed]

Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol, 48:589-96. 2003. [PubMed]

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet, 40:900-6. 2003. [PubMed]

Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT . Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet, 41:545-9. 2004. [PubMed]

Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JCC. MMP-20 Mutation in Autosomal Recessive Pigmented Hypomaturation Amelogenesis Imperfecta. J Med Genet, 42:366-70. 2005. [PubMed]

Hart PS, Hart TC. Disorders of Human Dentin. Cells Tissues Organs, 186(1):70-7. 2007. [PubMed]

Jang SI, Lee EJ, Hart PS, Ramaswami M, Pallos D, Hart TC. Germ Line Gain of Function with SOS1 Mutation in Hereditary Gingival Fibromatosis. J Biol Chem, 282(28):20245-55. 2007. [PubMed]

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Last Reviewed: November 20, 2008