Stephanie Ware

  • 2707 Citations
  • 26 h-Index
20012019
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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
Heterotaxy Syndrome 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

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
2 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

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

Burkhalter, M. D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M. S., Donow, C., Angenendt, M., Investigators, C. N. F. C. H. D., Hempel, M., Walther, P., Pennekamp, P., Omran, H., Ware, S., Ware, S. M. & Philipp, M., May 16 2019, In : The Journal of clinical investigation. 130

Research output: Contribution to journalArticle

Open Access
Cilia
Zebrafish
Heart Diseases
Phenotype
Mitochondria

The impact of cardiovascular genetic counseling on patient empowerment

Ison, H. E., Ware, S., Schwantes-An, T. H., Freeze, S., Elmore, L. & Spoonamore, K. G., Jun 1 2019, In : Journal of Genetic Counseling. 28, 3, p. 570-577 8 p.

Research output: Contribution to journalArticle

Patient Participation
Genetic Counseling
Appointments and Schedules
Genetic Services
Disclosure