Hart Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Suzanne Hart, Ph.D.

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

Selected Publications

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]

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]

McKnight DA, Hart PS, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.  Hum Mutat, 29(12):1392-404. 2008. [PubMed]

McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.  J Dent Res, 87:8-11, 2008. [PubMed]

Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW.  Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. Cells Tissues Organs, 189:224-9. 2009. [PubMed]

Hart PS, Becerik S, Cogulu D, Emingi G, Ozenen DO, Han ST, Sulima PP, Firatli E, Hart TC.  Novel FAM83H mutations in Turkish families with autosomal dominant hypocalified amelogenesis imperfecta. ClinGenet, 75:401-4. 2009. [PubMed]

Becerik S, Cogulu D, Emingi G, Hart PS, Hart TC. Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. Am J Med Genet, 149A:1392-8. 2009. [PubMed]

Wright JT, Simmons D, Frazier-Bowers S, Hart PS, Hart TC.  Phenotypic variation of autosomal dominant hypocalcified amelogenesis imperfecta associated with different FAM83H mutations.  J Dent Res, 88:356-60. 2009. [PubMed]

Hart TC, Hart PS. Genetic studies of craniofacial anomalies: clinical implications and applications. Orthod Craniofac Res, 12:212-20. 2009. [PubMed

Zivná M, H?lková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S.  Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet, 85:204-13, 2009. [PubMed]

Schäffer P, Gombos E, Meichelbeck K, Kiss A, Hart PS, Bleyer AJ. Childhood course of renal insufficiency in a family with a uromodulin gene mutation. Pediatr Nephrol, 25(7):1355-60. 2010. [PubMed]

Pallos D, Acevedo AC, Mestrinho HD, Cordeiro I, Hart PS, Hart TC.  Novel CTSC mutation in a Brazilian family with Papillon-Lefevre Syndrome: case report and mutation update. J Dentistry for Children, 77(1):36-41. 2010. [PubMed]

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J,  et al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol, 122(1-2):1-6. 2012. [PubMed]

Kirby A, Gnirke A, Jaffe DB, Bare?ová V, Pochet N, Blumenstiel B, Ye C, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.  Nat Genet, 45(3):299-303. 2013. [PubMed]

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G , et al. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol, 9(3):527-35. 2014. [PubMed]
 

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Last Updated: June 19, 2014