P. Suzanne Hart - Concepedia

Author

P. Suzanne Hart

National Human Genome Research Institute ORCID

Also Known As

Cesar A. Raposo‐Amaral, Gibson, Carolyn W., Hartsfield, James K., Long, Kimberly, M Annells, P Hart, P S Hart, P Suzanne Hart, P. S. Hart, P. Suzanne Hart

Publications

4.5K

Citations

H-Index

102

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health National Institute of Dental and Craniofacial Research University of North Carolina at Chapel Hill University of Pittsburgh

About

P. Suzanne Hart is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	25	2K
2	Public Health	3	3	156
3	Health Sciences	2	2	40
4	Natural Sciences	1	1	73
5	Anatomy	1	1	69

P. Suzanne Hart

Publications

3.5K

Citations

H-Index

Page 1

	Year	Citations
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis Roland H. Pfützer, M. Michael Barmada, Andrew P. J. Brunskill, Gastroenterology Pancreatic Fluid CollectionGeneticsGenetic EpidemiologyGastroenterologyPathology	2000	514
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing Andrew Kirby, Andreas Gnirke, David B. Jaffe, Nature Genetics	2013	304
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure Martina Živná, Helena Hůlková, Marie Matignon, The American Journal of Human Genetics HypertensionRenal FunctionMedicineGeneticsRenal Pathology	2009	163
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük, Blood	2010	153
Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families J. Timothy Wright, Melody Torain, Kimberly Long, Cells Tissues Organs Allelic VariantGenetic TestingDevelopmental BiologyAmelogenesis ImperfectaGenetic Disorder	2011	138
Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta J. Timothy Wright, P. Suzanne Hart, Michael J. Aldred, Connective Tissue Research Developmental BiologyMineralization DefectsGenetic DisorderGeneticsOral Biology	2003	137
Disorders of Human Dentin P. Suzanne Hart, Thomas C. Hart Cells Tissues Organs Tissue EngineeringRegenerative MedicineDental ConditionsOdontologyDevelopmental Biology	2007	126
<i>MMP20</i> Active-site Mutation in Hypomaturation Amelogenesis Imperfecta P. Suzanne Hart, Ok Hee Ryu, S.J. Choi, Journal of Dental Research	2005	112
A comprehensive analysis of normal variation and disease-causing mutations in the human<i>DSPP</i>gene Dianalee McKnight, P. Suzanne Hart, Thomas C. Hart, Human Mutation Phenotypic VariationGeneticsDisease-causing MutationsDisease Gene IdentificationHuman Phenotypes	2008	103
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry, Nephron Physiology	2013	102

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