Stephanie Ware

  • 3174 Citations
  • 29 h-Index
20012020

Research output per year

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Publications

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Article
2020

Adolescents with congenital heart defects: A patient and parental perspective of genetic information and genetic risk

Crawford, C. A., Vujakovich, C. E., Elmore, L., Fleming, E., Landis, B. J., Spoonamore, K. G. & Ware, S. M., 2020, In : Cardiology in the Young. 30, 2, p. 219-226 8 p.

Research output: Contribution to journalArticle

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., Apr 2020, In : European Journal of Medical Genetics. 63, 4, 103797.

Research output: Contribution to journalArticle

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 2020, In : Heart Rhythm. 17, 1, p. 106-112 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

SHROOM3 is downstream of the planar cell polarity pathway and loss-of-function results in congenital heart defects

Durbin, M. D., O'Kane, J., Lorentz, S., Firulli, A. B. & Ware, S. M., Aug 15 2020, In : Developmental Biology. 464, 2, p. 124-136 13 p.

Research output: Contribution to journalArticle

2019

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

Pediatric Cardiomyopathy Registry Investigators, Jun 2019, In : Progress in Pediatric Cardiology. 53, p. 1-10 10 p.

Research output: Contribution to journalArticle

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. M. & Belmont, J. W., Apr 1 2019, In : European Journal of Human Genetics. 27, 4, p. 563-573 11 p.

Research output: Contribution to journalArticle

9 Scopus citations

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

Burkhalter, M. D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M. S., Donow, C., Angenendt, M., Hempel, M., Walther, P., Pennekamp, P., Omran, H., Lopes, S. S., Ware, S. M. & Philipp, M., Jan 1 2019, In : Journal of Clinical Investigation. 129, 7, p. 2841-2855 15 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

The impact of cardiovascular genetic counseling on patient empowerment

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

Research output: Contribution to journalArticle

4 Scopus citations
2018

Diagnosis of primary ciliary dyskinesia: An official American thoracic society clinical practice guideline

Shapiro, A. J., Davis, S. D., Polineni, D., Manion, M., Rosenfeld, M., Dell, S. D., Chilvers, M. A., Ferkol, T. W., Zariwala, M. A., Sagel, S. D., Josephson, M., Morgan, L., Yilmaz, O., Olivier, K. N., Milla, C., Pittman, J. E., Leigh Anne Daniels, M., Jones, M. H., Janahi, I. A., Ware, S. M. & 10 others, Daniel, S. J., Cooper, M. L., Nogee, L. M., Anton, B., Eastvold, T., Ehrne, L., Guadagno, E., Knowles, M. R., Leigh, M. W. & Lavergne, V., Jun 15 2018, In : American journal of respiratory and critical care medicine. 197, 12, p. e24-e39

Research output: Contribution to journalArticle

57 Scopus citations

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

on behalf of the ACMG Professional Practice and Guidelines Committee, Jun 14 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-11 11 p.

Research output: Contribution to journalArticle

27 Scopus citations

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M. R. G., Vatta, M. & Ware, S. M., May 2018, In : Journal of Cardiac Failure. 24, 5, p. 281-302 22 p.

Research output: Contribution to journalArticle

56 Scopus citations

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

Levin, M. D., Saitta, S. C., Gripp, K. W., Wenger, T. L., Ganesh, J., Kalish, J. M., Epstein, M. R., Smith, R., Czosek, R. J., Ware, S. M., Goldenberg, P., Myers, A., Chatfield, K. C., Gillespie, M. J., Zackai, E. H. & Lin, A. E., Aug 2018, In : American Journal of Medical Genetics, Part A. 176, 8, p. 1711-1722 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy

Schubert, J., Tariq, M., Geddes, G., Kindel, S., Miller, E. M. & Ware, S. M., Dec 2018, In : Human Mutation. 39, 12, p. 2083-2096 14 p.

Research output: Contribution to journalArticle

4 Scopus citations
2017

Differences in Presentation and Outcomes between Children with Familial Dilated Cardiomyopathy and Children with Idiopathic Dilated Cardiomyopathy: A Report from the Pediatric Cardiomyopathy Registry Study Group

Rusconi, P., Wilkinson, J. D., Sleeper, L. A., Lu, M., Cox, G. F., Towbin, J. A., Colan, S. D., Webber, S. A., Canter, C. E., Ware, S. M., Hsu, D. T., Chung, W. K., Jefferies, J. L., Cordero, C. & Lipshultz, S. E., Feb 1 2017, In : Circulation: Heart Failure. 10, 2, e002637.

Research output: Contribution to journalArticle

12 Scopus citations

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity

Landis, B. J., Schubert, J. A., Lai, D., Jegga, A. G., Shikany, A. R., Foroud, T., Ware, S. M. & Hinton, R. B., Aug 1 2017, In : Journal of cardiovascular translational research. 10, 4, p. 423-432 10 p.

Research output: Contribution to journalArticle

7 Scopus citations

Genetic Testing in Pediatric Left Ventricular Noncompaction

Miller, E. M., Hinton, R. B., Czosek, R., Lorts, A., Parrott, A., Shikany, A. R., Ittenbach, R. F. & Ware, S., Dec 1 2017, In : Circulation: Cardiovascular Genetics. 10, 6, e001735.

Research output: Contribution to journalArticle

20 Scopus citations

Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics

Rindler, T. N., Hinton, R. B., Salomonis, N. & Ware, S. M., Jan 18 2017, In : Scientific reports. 7, 39276.

Research output: Contribution to journalArticle

7 Scopus citations

Noncompaction cardiomyopathy and heterotaxy syndrome

Martinez, H. R., Ware, S. M., Schamberger, M. S. & Parent, J. J., Sep 2017, In : Progress in Pediatric Cardiology. 46, p. 23-27 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Pediatric cardiomyopathies

Lee, T. M., Hsu, D. T., Kantor, P., Towbin, J. A., Ware, S. M., Colan, S. D., Chung, W. K., Jefferies, J. L., Rossano, J. W., Castleberry, C. D., Addonizio, L. J., Lal, A. K., Lamour, J. M., Miller, E. M., Thrush, P. T., Czachor, J. D., Razoky, H., Hill, A. & Lipshultz, S. E., Sep 1 2017, In : Circulation research. 121, 7, p. 855-873 19 p.

Research output: Contribution to journalArticle

61 Scopus citations

Septal contributions to olfactory bulb interneuron diversity in the embryonic mouse telencephalon: Role of the homeobox gene Gsx2

Qin, S., Ware, S. M., Waclaw, R. R. & Campbell, K., Aug 16 2017, In : Neural Development. 12, 1, 13.

Research output: Contribution to journalArticle

8 Scopus citations

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services

Helm, B. M., Freeze, S. L., Spoonamore, K. G., Ware, S., Ayers, M. D. & Kean, A. C., Oct 27 2017, (Accepted/In press) In : Journal of Genetic Counseling. p. 1-7 7 p.

Research output: Contribution to journalArticle

3 Scopus citations
2016

Analysis of TFGBR1*6A variant in individuals evaluated for Marfan syndrome

Somers, A. E., Hinton, R. B., Pilipenko, V., Miller, E. & Ware, S., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

3 Scopus citations

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing

Schubert, J. A., Landis, B. J., Shikany, A. R., Hinton, R. B. & Ware, S. M., May 1 2016, In : American Journal of Medical Genetics, Part A. 170, 5, p. 1288-1294 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Cowan, J. R., Tariq, M., Shaw, C., Rao, M., Belmont, J. W., Lalani, S. R., Smolarek, T. A. & Ware, S. M., Dec 19 2016, In : Philosophical Transactions of the Royal Society B: Biological Sciences. 371, 1710, 20150406.

Research output: Contribution to journalArticle

9 Scopus citations

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

Li, Y., Yagi, H., Onuoha, E. O., Damerla, R. R., Francis, R., Furutani, Y., Tariq, M., King, S. M., Hendricks, G., Cui, C., Saydmohammed, M., Lee, D. M., Zahid, M., Sami, I., Leatherbury, L., Pazour, G. J., Ware, S. M., Nakanishi, T., Goldmuntz, E., Tsang, M. & 1 others, Lo, C. W., Feb 2016, In : PLoS Genetics. 12, 2, e1005821.

Research output: Contribution to journalArticle

38 Scopus citations

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement from the American Heart Association

Mital, S., Musunuru, K., Garg, V., Russell, M. W., Lanfear, D. E., Gupta, R. M., Hickey, K. T., Ackerman, M. J., Perez, M. V., Roden, D. M., Woo, D., Fox, C. S. & Ware, S., Oct 1 2016, In : Circulation: Cardiovascular Genetics. 9, 5, p. 448-467 20 p.

Research output: Contribution to journalArticle

27 Scopus citations

Genetic and Developmental Basis of Cardiovascular Malformations

Azhar, M. & Ware, S., Mar 1 2016, In : Clinics in Perinatology. 43, 1, p. 39-53 15 p.

Research output: Contribution to journalArticle

11 Scopus citations

Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias

Spoonamore, K. G. & Ware, S., Mar 1 2016, In : Heart Rhythm. 13, 3, p. 789-797 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic

Goldenberg, P. C., Adler, B. J., Parrott, A., Anixt, J., Mason, K., Phillips, J., Cooper, D. S., Ware, S. & Marino, B. S., Sep 19 2016, (Accepted/In press) In : Cardiology in the Young. p. 1-8 8 p.

Research output: Contribution to journalArticle

4 Scopus citations

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

Lessel, D., Muhammad, T., Casar Tena, T., Moepps, B., Burkhalter, M. D., Hitz, M. P., Toka, O., Rentzsch, A., Schubert, S., Schalinski, A., Bauer, U. M. M., Kubisch, C., Ware, S. M. & Philipp, M., Sep 13 2016, In : Scientific reports. 6, 33231.

Research output: Contribution to journalArticle

1 Scopus citations
2015

Aortopathy in the 7q11.23 microduplication syndrome

Parrott, A., James, J., Goldenberg, P., Hinton, R. B., Miller, E., Shikany, A., Aylsworth, A. S., Kaiser-Rogers, K., Ferns, S. J., Lalani, S. R. & Ware, S. M., Feb 1 2015, In : American Journal of Medical Genetics, Part A. 167, 2, p. 363-370 8 p.

Research output: Contribution to journalArticle

19 Scopus citations

Clinical stratification of pediatric patients with idiopathic thoracic aortic aneurysm

Landis, B. J., Ware, S. M., James, J., Shikany, A. R., Martin, L. J. & Hinton, R. B., Jul 1 2015, In : Journal of Pediatrics. 167, 1, p. 131-137.e5

Research output: Contribution to journalArticle

6 Scopus citations

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Probst, F. J., James, R. A., Burrage, L. C., Rosenfeld, J. A., Bohan, T. P., Melver, C. H. W., Magoulas, P., Austin, E., Franklin, A. I. A., Azamian, M., Xia, F., Patel, A., Bi, W., Bacino, C., Belmont, J. W., Ware, S. M., Shaw, C., Cheung, S. W. & Lalani, S. R., Jun 14 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 75.

Research output: Contribution to journalArticle

3 Scopus citations

Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging

Tandon, A., Jefferies, J. L., Villa, C. R., Hor, K. N., Wong, B. L., Ware, S., Gao, Z., Towbin, J. A., Mazur, W., Fleck, R. J., Sticka, J. J., Benson, D. W. & Taylor, M. D., Apr 1 2015, In : The American Journal of Cardiology. 115, 7, p. 967-971 5 p.

Research output: Contribution to journalArticle

14 Scopus citations

Evaluation of genetic causes of cardiomyopathy in childhood

Ware, S. M., Sep 17 2015, In : Cardiology in the Young. 25, S2, p. 43-50 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Novel Timothy syndrome mutation leading to increase in CACNA1C window current

Boczek, N. J., Miller, E. M., Ye, D., Nesterenko, V. V., Tester, D. J., Antzelevitch, C., Czosek, R. J., Ackerman, M. J. & Ware, S. M., Jan 1 2015, In : Heart Rhythm. 12, 1, p. 211-219 9 p.

Research output: Contribution to journalArticle

41 Scopus citations

Shared segment analysis and next-generation sequencing implicates the retinoic acid signaling pathway in Total Anomalous Pulmonary Venous Return (TAPVR)

Nash, D., Arrington, C. B., Kennedy, B. J., Yandell, M., Wu, W., Zhang, W., Ware, S., Jorde, L. B., Gruber, P. J., Yost, H. J., Bowles, N. E. & Bleyl, S. B., Jun 29 2015, In : PloS one. 10, 6, e0131514.

Research output: Contribution to journalArticle

12 Scopus citations

Summary of the 2015 international paediatric heart failure summit of Johns Hopkins All Children's Heart Institute

Jacobs, J. P., Quintessenza, J. A., Karl, T. R., Asante-Korang, A., Everett, A. D., Collins, S. B., Ramirez-Correa, G. A., Burns, K. M., Cohen, M., Colan, S. D., Costello, J. M., Daly, K. P., Franklin, R. C. G., Fraser, C. D., Hill, K. D., Huhta, J. C., Kaushal, S., Law, Y. M., Lipshultz, S. E., Murphy, A. M. & 7 others, Pasquali, S. K., Payne, M. R., Rossano, J., Shirali, G., Ware, S. M., Xu, M. & Jacobs, M. L., Sep 17 2015, In : Cardiology in the Young. 25, S2, p. 8-30 23 p.

Research output: Contribution to journalArticle

6 Scopus citations
2014

Genetic and Functional Analyses of ZIC3 Variants in Congenital Heart Disease

Cowan, J., Tariq, M. & Ware, S. M., Jan 1 2014, In : Human Mutation. 35, 1, p. 66-75 10 p.

Research output: Contribution to journalArticle

34 Scopus citations

Genetic Testing Practices in Infants with Congenital Heart Disease

Connor, J. A., Hinton, R. B., Miller, E. M., Sund, K. L., Ruschman, J. G. & Ware, S. M., Jan 1 2014, In : Congenital Heart Disease. 9, 2, p. 158-167 10 p.

Research output: Contribution to journalArticle

24 Scopus citations

Provision of Cardiovascular Genetic Counseling Services: Current Practice and Future Directions

Somers, A. E., Ware, S. M., Collins, K., Jefferies, J. L., He, H. & Miller, E. M., Nov 16 2014, In : Journal of Genetic Counseling. 23, 6, p. 976-983 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation

Ware, S. M., Shikany, A., Landis, B. J., James, J. F. & Hinton, R. B., Jan 1 2014, In : Pediatrics. 134, 4, p. e1218-e1223

Research output: Contribution to journalArticle

6 Scopus citations
2013

Heterotaxy-spectrum heart defects in Zic3 hypomorphic mice

Haaning, A. M., Quinn, M. E. & Ware, S. M., Nov 1 2013, In : Pediatric Research. 74, 5, p. 494-502 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

Abonia, J. P., Wen, T., Stucke, E. M., Grotjan, T., Griffith, M. S., Kemme, K. A., Collins, M. H., Putnam, P. E., Franciosi, J. P., Von Tiehl, K. F., Tinkle, B. T., Marsolo, K. A., Martin, L. J., Ware, S. M. & Rothenberg, M. E., Aug 1 2013, In : Journal of Allergy and Clinical Immunology. 132, 2, p. 378-386 9 p.

Research output: Contribution to journalArticle

92 Scopus citations

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Lalani, S. R., Ware, S. M., Wang, X., Zapata, G., Tian, Q., Franco, L. M., Jiang, Z., Bucasas, K., Scott, D. A., Campeau, P. M., Hanchard, N., Umaña, L., Cast, A., Patel, A., Cheung, S. W., McBride, K. L., Bray, M., Chinault, A. C., Boggs, B. A., Huang, M. & 7 others, Baker, M. R., Hamilton, S., Towbin, J., Jefferies, J. L., Fernbach, S. D., Potocki, L. & Belmont, J. W., Nov 2013, In : Human molecular genetics. 22, 21, p. 4339-4348 10 p., ddt283.

Research output: Contribution to journalArticle

23 Scopus citations

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Lalani, S. R., Shaw, C., Wang, X., Patel, A., Patterson, L. W., Kolodziejska, K., Szafranski, P., Ou, Z., Tian, Q., Kang, S. H. L., Jinnah, A., Ali, S., Malik, A., Hixson, P., Potocki, L., Lupski, J. R., Stankiewicz, P., Bacino, C. A., Dawson, B., Beaudet, A. L. & 8 others, Boricha, F. M., Whittaker, R., Li, C., Ware, S. M., Cheung, S. W., Penny, D. J., Jefferies, J. L. & Belmont, J. W., Feb 1 2013, In : European Journal of Human Genetics. 21, 2, p. 173-181 9 p.

Research output: Contribution to journalArticle

36 Scopus citations

Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families

Miller, E. M., Wang, Y. & Ware, S. M., Apr 1 2013, In : Journal of Genetic Counseling. 22, 2, p. 258-267 10 p.

Research output: Contribution to journalArticle

36 Scopus citations

Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning

Sutherland, M. J., Wang, S., Quinn, M. E., Haaning, A. & Ware, S. M., May 1 2013, In : Human molecular genetics. 22, 10, p. 1913-1923 11 p., ddt001.

Research output: Contribution to journalArticle

21 Scopus citations
2012

An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis

Cast, A. E., Gao, C., Amack, J. D. & Ware, S. M., Apr 1 2012, In : Developmental Biology. 364, 1, p. 22-31 10 p.

Research output: Contribution to journalArticle

18 Scopus citations