Stephanie Ware

  • 2909 Citations
  • 27 h-Index
20012019
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  • 8 Similar Profiles
Cardiomyopathies Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Mutation Medicine & Life Sciences
Heart Diseases Medicine & Life Sciences
Genetic Testing Medicine & Life Sciences
Congenital Heart Defects Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Hypertrophic Cardiomyopathy Medicine & Life Sciences

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NIH Grants 2001 2013

Hedgehogs
Heart Diseases
Morphogenesis
Crowns
Molecular Biology
Body Patterning
Mesoderm
Molecular Biology
Embryology
Congenital Heart Defects

Publications 2002 2019

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

Arya, P., Wilson, T. E., Parent, J. J., Ware, S. M., Breman, A. M. & Helm, B. M., Jan 1 2019, (Accepted/In press) In : European Journal of Medical Genetics. 103797.

Research output: Contribution to journalArticle

Heart Diseases
Phenotype
Haploinsufficiency
Motor Skills
Congenital Heart Defects

Cardiac biomarkers in pediatric cardiomyopathy: Study design and recruitment results from the Pediatric Cardiomyopathy Registry

Pediatric Cardiomyopathy Registry Investigators, Jan 1 2019, In : Progress in Pediatric Cardiology.

Research output: Contribution to journalArticle

Cardiomyopathies
Registries
Dilated Cardiomyopathy
Biomarkers
Pediatrics
Open Access
Consultants
Genomics
Cardiomyopathies
Medicine
Conflict of Interest
5 Citations (Scopus)

Genetic architecture of laterality defects revealed by whole exome sequencing

Li, A. H., Hanchard, N. A., Azamian, M., D’Alessandro, L. C. A., Coban-Akdemir, Z., Lopez, K. N., Hall, N. J., Dickerson, H., Nicosia, A., Fernbach, S., Boone, P. M., Gambin, T., Karaca, E., Gu, S., Yuan, B., Jhangiani, S. N., Doddapaneni, H. V., Hu, J., Dinh, H., Jayaseelan, J. & 11 others, Muzny, D., Lalani, S., Towbin, J., Penny, D., Fraser, C., Martin, J., Lupski, J. R., Gibbs, R. A., Boerwinkle, E., Ware, S. & Belmont, J. W., Apr 1 2019, In : European Journal of Human Genetics. 27, 4, p. 563-573 11 p.

Research output: Contribution to journalArticle

Exome
Genes
Phenotype
Kartagener Syndrome
Genetic Models
1 Citation (Scopus)

Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy

Knight, L. M., Miller, E., Kovach, J., Arscott, P., von Alvensleben, J. C., Bradley, D., Valdes, S. O., Ware, S. M., Meyers, L., Travers, C. D., Campbell, R. M. & Etheridge, S. P., Jan 1 2019, (Accepted/In press) In : Heart Rhythm.

Research output: Contribution to journalArticle

Long QT Syndrome
Hypertrophic Cardiomyopathy
Genetic Testing
Cardiology
Pediatrics