Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K, Garg, Vidu, Lacro, Ronald V, McGuire, Amy L, Mital, Seema, Priest, James R, Pu, William T, Roberts, Amy, Ware, Stephanie M, Gelb, Bruce D, Russell, Mark W
Published in Circulation (New York, N.Y.) (20.11.2018)
Published in Circulation (New York, N.Y.) (20.11.2018)
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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, Ware, Stephanie M.
Published in Journal of cardiac failure (01.05.2018)
Published in Journal of cardiac failure (01.05.2018)
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Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline
Shapiro, Adam J, Davis, Stephanie D, Polineni, Deepika, Manion, Michele, Rosenfeld, Margaret, Dell, Sharon D, Chilvers, Mark A, Ferkol, Thomas W, Zariwala, Maimoona A, Sagel, Scott D, Josephson, Maureen, Morgan, Lucy, Yilmaz, Ozge, Olivier, Kenneth N, Milla, Carlos, Pittman, Jessica E, Daniels, M Leigh Anne, Jones, Marcus Herbert, Janahi, Ibrahim A, Ware, Stephanie M, Daniel, Sam J, Cooper, Matthew L, Nogee, Lawrence M, Anton, Billy, Eastvold, Tori, Ehrne, Lynn, Guadagno, Elena, Knowles, Michael R, Leigh, Margaret W, Lavergne, Valery
Published in American journal of respiratory and critical care medicine (15.06.2018)
Published in American journal of respiratory and critical care medicine (15.06.2018)
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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, Ware, Stephanie M.
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
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Pediatric Cardiomyopathies
Lee, Teresa M, Hsu, Daphne T, Kantor, Paul, Towbin, Jeffrey A, Ware, Stephanie M, Colan, Steven D, Chung, Wendy K, Jefferies, John L, Rossano, Joseph W, Castleberry, Chesney D, Addonizio, Linda J, Lal, Ashwin K, Lamour, Jacqueline M, Miller, Erin M, Thrush, Philip T, Czachor, Jason D, Razoky, Hiedy, Hill, Ashley, Lipshultz, Steven E
Published in Circulation research (15.09.2017)
Published in Circulation research (15.09.2017)
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Congenital heart defects caused by FOXJ1
Padua, Maria B, Helm, Benjamin M, Wells, John R, Smith, Amanda M, Bellchambers, Helen M, Sridhar, Arthi, Ware, Stephanie M
Published in Human molecular genetics (04.07.2023)
Published in Human molecular genetics (04.07.2023)
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
Fakhro, Khalid A., Choi, Murim, Ware, Stephanie M., Belmont, John W., Towbin, Jeffrey A., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina
Published in Proceedings of the National Academy of Sciences - PNAS (15.02.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (15.02.2011)
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Single cell RNA analysis of the left–right organizer transcriptome reveals potential novel heterotaxy genes
Bellchambers, Helen M., Phatak, Amruta R., Nenni, Mardi J., Padua, Maria B., Gao, Hongyu, Liu, Yunlong, Ware, Stephanie M.
Published in Scientific reports (01.07.2023)
Published in Scientific reports (01.07.2023)
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Genetic architecture of laterality defects revealed by whole exome sequencing
Li, Alexander H, Hanchard, Neil A, Azamian, Mahshid, D'Alessandro, Lisa C A, Coban-Akdemir, Zeynep, Lopez, Keila N, Hall, Nancy J, Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M, Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R, Gibbs, Richard A, Boerwinkle, Eric, Ware, Stephanie M, Belmont, John W
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
Li, You, Yagi, Hisato, Onuoha, Ezenwa Obi, Damerla, Rama Rao, Francis, Richard, Furutani, Yoshiyuki, Tariq, Muhammad, King, Stephen M, Hendricks, Gregory, Cui, Cheng, Saydmohammed, Manush, Lee, Dong Min, Zahid, Maliha, Sami, Iman, Leatherbury, Linda, Pazour, Gregory J, Ware, Stephanie M, Nakanishi, Toshio, Goldmuntz, Elizabeth, Tsang, Michael, Lo, Cecilia W
Published in PLoS genetics (26.02.2016)
Published in PLoS genetics (26.02.2016)
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Genetic Testing in Pediatric Left Ventricular Noncompaction
Miller, Erin M, Hinton, Robert B, Czosek, Richard, Lorts, Angela, Parrott, Ashley, Shikany, Amy R, Ittenbach, Richard F, Ware, Stephanie M
Published in Circulation. Cardiovascular genetics (01.12.2017)
Published in Circulation. Cardiovascular genetics (01.12.2017)
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High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders
Abonia, J. Pablo, MD, Wen, Ting, PhD, Stucke, Emily M., BA, Grotjan, Tommie, BS, Griffith, Molly S., BA, Kemme, Katherine A., BS, Collins, Margaret H., MD, Putnam, Philip E., MD, Franciosi, James P., MD, MS, MSCE, von Tiehl, Karl F., MD, Tinkle, Brad T., MD, PhD, Marsolo, Keith A., PhD, Martin, Lisa J., PhD, Ware, Stephanie M., MD, PhD, Rothenberg, Marc E., MD, PhD
Published in Journal of allergy and clinical immunology (01.08.2013)
Published in Journal of allergy and clinical immunology (01.08.2013)
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Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation
Kindel, Steven J., MD, Miller, Erin M., MSc, Gupta, Resmi, MSc, MA, Cripe, Linda H., MD, Hinton, Robert B., MD, Spicer, Robert L., MD, Towbin, Jeffrey A., MD, Ware, Stephanie M., MD, PhD
Published in Journal of cardiac failure (01.05.2012)
Published in Journal of cardiac failure (01.05.2012)
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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association
Landstrom, Andrew P, Kim, Jeffrey J, Gelb, Bruce D, Helm, Benjamin M, Kannankeril, Prince J, Semsarian, Christopher, Sturm, Amy C, Tristani-Firouzi, Martin, Ware, Stephanie M
Published in Circulation. Genomic and precision medicine (01.10.2021)
Published in Circulation. Genomic and precision medicine (01.10.2021)
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Novel Timothy syndrome mutation leading to increase in CACNA1C window current
Boczek, Nicole J., BA, Miller, Erin M., MS, LCGC, Ye, Dan, MD, Nesterenko, Vladislav V., PhD, Tester, David J., BS, Antzelevitch, Charles, PhD, FHRS, Czosek, Richard J., MD, Ackerman, Michael J., MD, PhD, Ware, Stephanie M., MD, PhD
Published in Heart rhythm (01.01.2015)
Published in Heart rhythm (01.01.2015)
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