P Suzanne Hart
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Explore the profile of P Suzanne Hart including associated specialties, affiliations and a list of published articles.
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32
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837
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Recent Articles
1.
Kaur M, Hadley D, Muenke M, Hart P
Mol Genet Genomic Med
. 2019 Feb;
7(1):e00599.
PMID: 30786327
To help fill the knowledge gap in human genetics and genomics, an International Summit (IS) in Human Genetics and Genomics was conceived and organized by the National Human Genome Research...
2.
Ferreira C, Regier D, Hadley D, Hart P, Muenke M
Mol Genet Genomic Med
. 2017 Jul;
5(4):307-316.
PMID: 28717657
Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.
3.
4.
Hart P, Muenke M
Mol Genet Genomic Med
. 2016 Jan;
3(6):481-2.
PMID: 26740938
As 2015 draws to a close so too do the many celebrations of the 150th anniversary of Mendel's presentation of his work entitled "Experiments in Plant Hybridization" to the Natural...
5.
Ozdemir-Karatas M, Ozdemir-Ozenen D, Hart P, Hart T
Case Rep Dent
. 2015 Jan;
2014:605892.
PMID: 25587461
Background. The orofaciodigital syndromes (OFDS) are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860) is rare and characterized by...
6.
Bleyer A, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe J, et al.
Clin J Am Soc Nephrol
. 2014 Feb;
9(3):527-35.
PMID: 24509297
Background And Objectives: The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1...
7.
Jaureguiberry G, de La Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, et al.
Nephron Physiol
. 2013 Feb;
122(1-2):1-6.
PMID: 23434854
Background/aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and...
8.
Tanpaiboon P, Sloan J, Callahan P, McAreavey D, Hart P, Lichter-Konecki U, et al.
JIMD Rep
. 2013 Feb;
10:33-8.
PMID: 23430797
Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism....
9.
Kirby A, Gnirke A, Jaffe D, Baresova V, Pochet N, Blumenstiel B, et al.
Nat Genet
. 2013 Feb;
45(3):299-303.
PMID: 23396133
Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We...
10.