104 Publications (Page 1 of 5)
2020
Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk
Crawford, Christopher A⋅Crawford, Christopher A⋅Vujakovich, Courtney E⋅Vujakovich, Courtney E⋅Elmore, Lindsey⋅Elmore, Lindsey⋅Fleming, Emily⋅Fleming, Emily⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Spoonamore, Katie G⋅Spoonamore, Katie G⋅Ware, Stephanie M and Ware, Stephanie M
Cardiology in the young, pp. 1, 2020-Jan-27. | Journal Article
 
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
Arya, Priyanka⋅Arya, Priyanka⋅Arya, Priyanka⋅Arya, Priyanka⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M and Helm, Benjamin M
European Journal of Medical Genetics, vol. 63, (no. 4), pp. 103797, April 2020. | Journal Article
 
Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy
Knight, Linda M⋅Knight, Linda M⋅Miller, Erin⋅Miller, Erin⋅Kovach, Joshua⋅Kovach, Joshua⋅Arscott, Patricia⋅Arscott, Patricia⋅von Alvensleben, Johannes C⋅von Alvensleben, Johannes C⋅Bradley, David⋅Bradley, David⋅Valdes, Santiago O⋅Valdes, Santiago O⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Meyers, Lindsay⋅Meyers, Lindsay⋅Travers, Curtis D⋅Travers, Curtis D⋅Campbell, Robert M⋅Campbell, Robert M⋅Etheridge, Susan P and Etheridge, Susan P
Heart Rhythm, vol. 17, (no. 1), pp. 112, January 2020. | Journal Article
2019
Cardiac biomarkers in pediatric cardiomyopathy: Study design and recruitment results from the Pediatric Cardiomyopathy Registry
Everitt, Melanie D⋅Everitt, Melanie D⋅Everitt, Melanie D⋅Wilkinson, James D⋅Wilkinson, James D⋅Wilkinson, James D⋅Shi, Ling⋅Shi, Ling⋅Shi, Ling⋅Towbin, Jeffrey A⋅Towbin, Jeffrey A⋅Towbin, Jeffrey A⋅Colan, Steven D⋅Colan, Steven D⋅Colan, Steven D⋅Kantor, Paul F⋅Kantor, Paul F⋅Kantor, Paul F⋅Canter, Charles E⋅Canter, Charles E⋅Canter, Charles E⋅Webber, Steven A⋅Webber, Steven A⋅Webber, Steven A⋅Hsu, Daphne T⋅Hsu, Daphne T⋅Hsu, Daphne T⋅Pahl, Elfriede⋅Pahl, Elfriede⋅Pahl, Elfriede⋅Addonizio, Linda J⋅Addonizio, Linda J⋅Addonizio, Linda J⋅Dodd, Debra A⋅Dodd, Debra A⋅Dodd, Debra A⋅Jefferies, John L⋅Jefferies, John L⋅Jefferies, John L⋅Rossano, Joseph W⋅Rossano, Joseph W⋅Rossano, Joseph W⋅Feingold, Brian⋅Feingold, Brian⋅Feingold, Brian⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Lee, Teresa M⋅Lee, Teresa M⋅Lee, Teresa M⋅Godown, Justin⋅Godown, Justin⋅Godown, Justin⋅Simpson, Kathleen E⋅Simpson, Kathleen E⋅Simpson, Kathleen E⋅Sleeper, Lynn A⋅Sleeper, Lynn A⋅Sleeper, Lynn A⋅Czachor, Jason D⋅Czachor, Jason D⋅Czachor, Jason D⋅Razoky, Hiedy⋅Razoky, Hiedy⋅Razoky, Hiedy⋅Hill, Ashley⋅Hill, Ashley⋅Hill, Ashley⋅Westphal, Joslyn⋅Westphal, Joslyn⋅Westphal, Joslyn⋅Molina, Kimberly M⋅Molina, Kimberly M⋅Molina, Kimberly M⋅Lipshultz, Steven E⋅Lipshultz, Steven E and Lipshultz, Steven E
Progress in Pediatric Cardiology, vol. 53, pp. 10, June 2019. | Journal Article
 
Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Hershberger, Ray E⋅Givertz, Michael M⋅Ho, Carolyn Y⋅Judge, Daniel P⋅Kantor, Paul F⋅McBride, Kim L⋅Morales, Ana⋅Taylor, Matthew R G⋅Vatta, Matteo and Ware, Stephanie M
Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, (no. 10), pp. 2409, 2019-May-01. | Journal Article
 
Genetic architecture of laterality defects revealed by whole exome sequencing
Li, Alexander H⋅Li, Alexander H⋅Hanchard, Neil A⋅Hanchard, Neil A⋅Azamian, Mahshid⋅Azamian, Mahshid⋅D'Alessandro, Lisa C A⋅D'Alessandro, Lisa C A⋅Coban-Akdemir, Zeynep⋅Coban-Akdemir, Zeynep⋅Lopez, Keila N⋅Lopez, Keila N⋅Hall, Nancy J⋅Hall, Nancy J⋅Dickerson, Heather⋅Dickerson, Heather⋅Nicosia, Annarita⋅Nicosia, Annarita⋅Fernbach, Susan⋅Fernbach, Susan⋅Boone, Philip M⋅Boone, Philip M⋅Gambin, Tomaz⋅Gambin, Tomaz⋅Karaca, Ender⋅Karaca, Ender⋅Gu, Shen⋅Gu, Shen⋅Yuan, Bo⋅Yuan, Bo⋅Jhangiani, Shalini N⋅Jhangiani, Shalini N⋅Doddapaneni, HarshaVardhan⋅Doddapaneni, HarshaVardhan⋅Hu, Jianhong⋅Hu, Jianhong⋅Dinh, Huyen⋅Dinh, Huyen⋅Jayaseelan, Joy⋅Jayaseelan, Joy⋅Muzny, Donna⋅Muzny, Donna⋅Lalani, Seema⋅Lalani, Seema⋅Towbin, Jeffrey⋅Towbin, Jeffrey⋅Penny, Daniel⋅Penny, Daniel⋅Fraser, Charles⋅Fraser, Charles⋅Martin, James⋅Martin, James⋅Lupski, James R⋅Lupski, James R⋅Gibbs, Richard A⋅Gibbs, Richard A⋅Boerwinkle, Eric⋅Boerwinkle, Eric⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Belmont, John W and Belmont, John W
European journal of human genetics : EJHG, vol. 27, (no. 4), pp. 573, 2019-04-00. | Journal Article
 
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
Burkhalter, Martin D⋅Sridhar, Arthi⋅Sampaio, Pedro⋅Jacinto, Raquel⋅Burczyk, Martina S⋅Donow, Cornelia⋅Angenendt, Max⋅Hempel, Maja⋅Walther, Paul⋅Pennekamp, Petra⋅Omran, Heymut⋅Lopes, Susana S⋅Ware, Stephanie M and Philipp, Melanie
Journal of Clinical Investigation, vol. 129, (no. 7), pp. 2841-2855, Jul 2019. | Journal Article
 
Taxonomic synthesis of the eastern North American millipede genus Pseudopolydesmus (Diplopoda: Polydesmida: Polydesmidae), utilizing high-detail ultraviolet fluorescence imaging
Sierwald, Petra⋅Hennen, Derek A⋅Zahnle, Xavier J⋅Ware, Stephanie and Marek, Paul E
Zoological Journal of the Linnean Society, vol. 187, (no. 1), pp. 142, 2019-08-23. | Journal Article
 
The impact of cardiovascular genetic counseling on patient empowerment
Ison, Hannah E⋅Ison, Hannah E⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Schwantes‐An, Tae‐Hwi⋅Schwantes‐An, Tae‐Hwi⋅Freeze, Samantha⋅Freeze, Samantha⋅Elmore, Lindsey⋅Elmore, Lindsey⋅Spoonamore, Katherine G and Spoonamore, Katherine G
Journal of Genetic Counseling, vol. 28, (no. 3), pp. 577, June 2019. | Journal Article
2018
Abstract 14210: Phenotype, but Not Genotype, Determines Survival in Pediatric Dilated Cardiomyopathy: A Study From the NHLBI-Funded Pediatric Cardiomyopathy Registry
Kantor, Paul⋅Ware, Stephanie⋅Shi, Ling⋅Webber, Steven⋅Chung, Wendy⋅Lee, Teresa⋅Aronow, Bruce⋅Bansal, Neha⋅Bhatnagar, Surbhi⋅Dexheimer, Phillip⋅Jefferies, John⋅Lal, Ashwin⋅Martin, Lisa⋅Miller, Erin⋅Rossano, Joseph⋅Schubert, Jeffrey⋅Sridhar, Arthi⋅Tariq, Muhammad⋅Razoky, Hiedy⋅Czachor, Jason⋅Wilkinson, James and Lipshultz, Steven
Circulation, vol. 138, (no. Suppl_1 Suppl 1), pp. A14210, 2018-November-6. | Journal Article
 
Abstract 15276: Identification of a Novel Sarcomeric TPM1 Variant in Familial Atrial Septal Defect
Teekakirikul, Polakit⋅Zhu, Wenjuan⋅Xu, Xinxiu⋅Smith, Amanda⋅Wang, Chengdong⋅Gabriel, George⋅Sonnenberg, Daniel⋅Moreau de Bellaing, Anne⋅Wang, Michael⋅Gou, Honglan⋅Wu, Yijen⋅Bais, Abha⋅Khalifa, Omar⋅Zahid, Maliha⋅Zhao, Hui⋅Ware, Stephanie⋅Feingold, Brian and Lo, Cecilia
Circulation, vol. 138, (no. Suppl_1 Suppl 1), pp. A15276, 2018-November-6. | Journal Article
 
Cardiomyopathy in Children: Identifying the Causes
Ware, Stephanie M
Journal of the American College of Cardiology, vol. 72, (no. 19), pp. 2341, 2018-11-06. | Journal Article
 
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Shapiro, Adam J⋅Shapiro, Adam J⋅Shapiro, Adam J⋅Shapiro, Adam J⋅Davis, Stephanie D⋅Davis, Stephanie D⋅Davis, Stephanie D⋅Davis, Stephanie D⋅Polineni, Deepika⋅Polineni, Deepika⋅Polineni, Deepika⋅Polineni, Deepika⋅Manion, Michele⋅Manion, Michele⋅Manion, Michele⋅Manion, Michele⋅Rosenfeld, Margaret⋅Rosenfeld, Margaret⋅Rosenfeld, Margaret⋅Rosenfeld, Margaret⋅Dell, Sharon D⋅Dell, Sharon D⋅Dell, Sharon D⋅Dell, Sharon D⋅Chilvers, Mark A⋅Chilvers, Mark A⋅Chilvers, Mark A⋅Chilvers, Mark A⋅Ferkol, Thomas W⋅Ferkol, Thomas W⋅Ferkol, Thomas W⋅Ferkol, Thomas W⋅Zariwala, Maimoona A⋅Zariwala, Maimoona A⋅Zariwala, Maimoona A⋅Zariwala, Maimoona A⋅Sagel, Scott D⋅Sagel, Scott D⋅Sagel, Scott D⋅Sagel, Scott D⋅Josephson, Maureen⋅Josephson, Maureen⋅Josephson, Maureen⋅Josephson, Maureen⋅Morgan, Lucy⋅Morgan, Lucy⋅Morgan, Lucy⋅Morgan, Lucy⋅Yilmaz, Ozge⋅Yilmaz, Ozge⋅Yilmaz, Ozge⋅Yilmaz, Ozge⋅Olivier, Kenneth N⋅Olivier, Kenneth N⋅Olivier, Kenneth N⋅Olivier, Kenneth N⋅Milla, Carlos⋅Milla, Carlos⋅Milla, Carlos⋅Milla, Carlos⋅Pittman, Jessica E⋅Pittman, Jessica E⋅Pittman, Jessica E⋅Pittman, Jessica E⋅Anne Daniels, M L⋅Anne Daniels, M L⋅Daniels, M Leigh Anne⋅Anne Daniels, M L⋅Jones, Marcus H⋅Jones, Marcus H⋅Jones, Marcus Herbert⋅Jones, Marcus H⋅Janahi, Ibrahim A⋅Janahi, Ibrahim A⋅Janahi, Ibrahim A⋅Janahi, Ibrahim A⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Daniel, Sam J⋅Daniel, Sam J⋅Daniel, Sam J⋅Daniel, Sam J⋅Cooper, Matthew L⋅Cooper, Matthew L⋅Cooper, Matthew L⋅Cooper, Matthew L⋅Nogee, Lawrence M⋅Nogee, Lawrence M⋅Nogee, Lawrence M⋅Nogee, Lawrence M⋅Anton, Billy⋅Anton, Billy⋅Anton, Billy⋅Anton, Billy⋅Eastvold, Tori⋅Eastvold, Tori⋅Eastvold, Tori⋅Eastvold, Tori⋅Ehrne, Lynn⋅Ehrne, Lynn⋅Ehrne, Lynn⋅Ehrne, Lynn⋅Guadagno, Elena⋅Guadagno, Elena⋅Guadagno, Elena⋅Guadagno, Elena⋅Knowles, Michael R⋅Knowles, Michael R⋅Knowles, Michael R⋅Knowles, Michael R⋅Leigh, Margaret W⋅Leigh, Margaret W⋅Leigh, Margaret W⋅Leigh, Margaret W⋅Lavergne, Valery⋅Lavergne, Valery⋅Lavergne, Valery and Lavergne, Valery
American journal of respiratory and critical care medicine, vol. 197, (no. 12), pp. e24-e39, June 15, 2018. | Journal Article
 
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Pierpont, Mary Ella⋅Pierpont, Mary⋅Brueckner, Martina⋅Brueckner, Martina⋅Chung, Wendy⋅Chung, Wendy K⋅Garg, Vidu⋅Garg, Vidu⋅Lacro, Ronald V⋅Lacro, Ronald⋅Mc Guire, Amy L⋅McGuire, Amy⋅Mital, Seema⋅Mital, Seema⋅Priest, James R⋅Priest, James⋅Pu, William T⋅Pu, William⋅Roberts, Amy⋅Roberts, Amy⋅Ware, Stephanie⋅Ware, Stephanie M⋅Gelb, Bruce⋅Gelb, Bruce D⋅Russell, Mark W and Russell, Mark
Circulation, vol. 138, (no. 21), pp. e711, 2018-November-20. | Journal Article
 
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hershberger, Ray E⋅Givertz, Michael M⋅Ho, Carolyn Y⋅Judge, Daniel P⋅Kantor, Paul F⋅Mc Bride, Kim L⋅Morales, Ana⋅Taylor, Matthew R G⋅Vatta, Matteo and Ware, Stephanie M
Genetics in medicine : official journal of the American College of Medical Genetics, June 14, 2018. | Journal Article
 
Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
Hershberger, Ray E⋅Givertz, Michael M⋅Ho, Carolyn Y⋅Judge, Daniel P⋅Kantor, Paul F⋅McBride, Kim L⋅Morales, Ana⋅Taylor, Matthew R.G⋅Vatta, Matteo and Ware, Stephanie M
Journal of Cardiac Failure, vol. 24, (no. 5), pp. 302, May 2018. | Journal Article
 
Genetics of pediatric cardiomyopathies
Chung, Wendy K⋅Ho, Carolyn⋅Lee, Teresa⋅Seidman, Christine E and Ware, Stephanie M
Progress in Pediatric Cardiology, vol. 49, pp. 19, June 2018. | Journal Article
 
Investigating the role of COQ8B in aortic smooth muscle cells
Stadler, Henry⋅Ware, Stephanie and Landis, Benjamin
Proceedings of IMPRS, vol. 1, (no. 1), 2018-12-07. | Journal Article
 
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Levin, Mark D⋅Levin, Mark D⋅Saitta, Sulagna C⋅Saitta, Sulagna C⋅Gripp, Karen W⋅Gripp, Karen W⋅Wenger, Tara L⋅Wenger, Tara L⋅Ganesh, Jaya⋅Ganesh, Jaya⋅Kalish, Jennifer M⋅Kalish, Jennifer M⋅Epstein, Michael R⋅Epstein, Michael R⋅Smith, Rosemarie⋅Smith, Rosemarie⋅Czosek, Richard J⋅Czosek, Richard J⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Goldenberg, Paula⋅Goldenberg, Paula⋅Myers, Angela⋅Myers, Angela⋅Chatfield, Kathryn C⋅Chatfield, Kathryn C⋅Gillespie, Matthew J⋅Gillespie, Matthew J⋅Zackai, Elaine H⋅Zackai, Elaine H⋅Lin, Angela E and Lin, Angela E
American Journal of Medical Genetics Part A, vol. 176, (no. 8), pp. 1722, August 2018. | Journal Article
 
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy
Schubert, Jeffrey⋅Tariq, Muhammad⋅Geddes, Gabrielle⋅Kindel, Steven⋅Miller, Erin M and Ware, Stephanie M
Human Mutation, vol. 39, (no. 12), pp. 2096, December 2018. | Journal Article
 
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling
Armstrong, Margaret E⋅Armstrong, Margaret E⋅Armstrong, Margaret E⋅Armstrong, Margaret E⋅Weaver, David D⋅Weaver, David D⋅Weaver, David D⋅Weaver, David D⋅Lah, Melissa D⋅Lah, Melissa D⋅Lah, Melissa D⋅Lah, Melissa D⋅Vance, Gail H⋅Vance, Gail H⋅Vance, Gail H⋅Vance, Gail H⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Landis, Benjamin J⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M and Helm, Benjamin M
Molecular cytogenetics, vol. 11, (no. 1), pp. 9, 2018-00-00. | Journal Article
 
THE FREQUENCY OF MUTATIONS IN KNOWN CARDIOMYOPATHY GENES AMONG CHILDREN WITH HYPERTROPHIC CARDIOMYOPATHY: THE NATIONAL HEART, LUNG AND BLOOD INSTITUTE-FUNDED MULTICENTER PEDIATRIC CARDIOMYOPATHY REGISTRY STUDY
Pahl, Elfriede⋅Ware, Stephanie⋅Shi, Ling⋅Dodd, Debra⋅Colan, Steven⋅Wilkinson, James⋅Sridhar, Arthi⋅Schubert, Jeffrey⋅Canter, Charles⋅Hsu, Daphne⋅Webber, Steven A⋅Everitt, Melanie⋅Kantor, Paul⋅Addonizio, Linda⋅Rossano, Joseph⋅Jeffries, John L⋅Chung, Wendy⋅Lee, Teresa⋅Towbin, Jeffrey⋅Rusconi, Paolo⋅Lal, Ashwin⋅Aronow, Bruce⋅Martin, Lisa⋅Miller, Erin and Lipshultz, Steven
Journal of the American College of Cardiology, vol. 71, (no. 11), pp. A663, 2018-03-10. | Journal Article
 
The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services
Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Helm, Benjamin⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Freeze, Samantha⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Spoonamore, Katherine⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ware, Stephanie⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Ayers, Mark⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam⋅Kean, Adam and Kean, Adam
Journal of Genetic Counseling, vol. 27, (no. 3), pp. 564, 20180600. | Journal Article
 
ZIC3 in Heterotaxy
Bellchambers, Helen M⋅Bellchambers, Helen M⋅Ware, Stephanie M and Ware, Stephanie M
Advances in experimental medicine and biology, vol. 1046, pp. 327, 2018-00-00. | Journal Article
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, Paolo⋅Rusconi, Paolo⋅Wilkinson, James D⋅Wilkinson, James D⋅Sleeper, Lynn A⋅Sleeper, Lynn A⋅Lu, Minmin⋅Lu, Minmin⋅Cox, Gerald F⋅Cox, Gerald F⋅Towbin, Jeffrey A⋅Towbin, Jeffrey A⋅Colan, Steven D⋅Colan, Steven D⋅Webber, Steven A⋅Webber, Steven A⋅Canter, Charles E⋅Canter, Charles E⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Hsu, Daphne T⋅Hsu, Daphne T⋅Chung, Wendy K⋅Chung, Wendy K⋅Jefferies, John L⋅Jefferies, John L⋅Cordero, Christina⋅Cordero, Christina⋅Lipshultz, Steven E and Lipshultz, Steven E
Circulation. Heart failure, vol. 10, (no. 2), 2017-Feb. | Journal Article