Heart Defects, Congenital

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Sierant, M. C., Jin, S. C., Bilguvar, K., Morton, S. U., Dong, W., Jiang, W., Lu, Z., Li, B., López-Giráldez, F., Tikhonova, I., Zeng, X., Lu, Q., Choi, J., Zhang, J., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., … Lifton, R. P. (2025). Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings of the National Academy of Sciences, 122(13). https://doi.org/10.1073/pnas.2420343122
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Dong, W., Jin, S. C., Sierant, M. C., Lu, Z., Li, B., Lu, Q., Morton, S. U., Zhang, J., López-Giráldez, F., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., Gruber, P. J., Lek, M., Goldmuntz, E., Deanfield, J., Giardini, A., … Brueckner, M. (2025). Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings of the National Academy of Sciences, 122(10). https://doi.org/10.1073/pnas.2419992122
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Crook, S., Sanchez, C. M., Dragan, K., Woo, J. L., Jiang, P., Neidell, M., Anderson, B. R., Cook, S., Hannan, E. L., Newburger, J. W., Jacobs, M. L., Goldstone, A., Vincent, R., Walsh-Spoonhower, K., Mosca, R., Kumar, T. K. S., Devejian, N., Biddix, B., Alfieris, G. M., … Billings, J. (2025). Days Alive Out of Health Care. Journal of the American College of Cardiology, 85(8), 851–862. https://doi.org/10.1016/j.jacc.2024.11.046
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Turner, M. E., Jones, T., & Bauser-Heaton, H. (2025). Considerations for Women with Congenital Heart Disease Undergoing Percutaneous Cardiovascular Procedures. Interventional Cardiology Clinics, 14(1), 97–107. https://doi.org/10.1016/j.iccl.2024.08.008
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Leezer, S., Mehta, R., Agarwal, A., Saraf, S., Messmer, M., Phillippi, R., Jackson, J. L., Roeder, M., Marlin, A., Peyser, N. D., Pletcher, M. J., Krasuski, R., Lewis, M., Reardon, L., Saidi, A., Kanter, R., Sandhu, S., Young, T., Jacobsen, R., … John, A. S. (2024). Patient-Reported Outcomes Among Adults With Congenital Heart Disease in the Congenital Heart Initiative Registry. JAMA Network Open, 7(10), e2439629. https://doi.org/10.1001/jamanetworkopen.2024.39629
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Petit, C. J., Romano, J. C., Zampi, J. D., Pasquali, S. K., McCracken, C. E., Chanani, N. K., Les, A. S., Burns, K. M., Crosby‐Thompson, A., Stylianou, M., Kato, B., & Glatz, A. C. (2024). Rationale and design of the randomized COmparison of Methods for Pulmonary blood flow Augmentation: Shunt versus Stent (COMPASS) trial: A Pediatric Heart Network study. Catheterization and Cardiovascular Interventions, 104(4), 637–647. Portico. https://doi.org/10.1002/ccd.31109
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Petit, C. J., Romano, J. C., Zampi, J. D., Pasquali, S. K., McCracken, C. E., Chanani, N. K., Les, A. S., Burns, K. M., Crosby-Thompson, A., Stylianou, M., Kato, B., & Glatz, A. C. (2024). Rationale and Design of the Randomized COmparison of Methods for Pulmonary Blood Flow Augmentation: Shunt Versus Stent (COMPASS) Trial: A Pediatric Heart Network Study. World Journal for Pediatric and Congenital Heart Surgery, 15(6), 693–702. https://doi.org/10.1177/21501351241266110
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Vandewouw, M. M., Norris-Brilliant, A., Rahman, A., Assimopoulos, S., Morton, S. U., Kushki, A., Cunningham, S., King, E., Goldmuntz, E., Miller, T. A., Thomas, N. H., Adams, H. R., Cleveland, J., Cnota, J. F., Ellen Grant, P., Goldberg, C. S., Huang, H., Li, J. S., McQuillen, P., … Anagnostou, E. (2024). Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. NeuroImage, 297, 120721. https://doi.org/10.1016/j.neuroimage.2024.120721
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Cordoves, E. M., Ferrari, G., Zorn, E., Bacha, E., Vunjak-Novakovic, G., & Kalfa, D. M. (2024). Storage, preservation, and rehabilitation of living heart valves to treat congenital heart disease. Med, 5(8), 859–862. https://doi.org/10.1016/j.medj.2024.07.004
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Sooy-Mossey, M., Matsuura, M., Ezekian, J. E., Williams, J. L., Lee, G. S., Wood, K., Dizon, S., Kaplan, S. J., Li, J. S., & Parente, V. (2023). The Association of Race and Ethnicity with Mortality in Pediatric Patients with Congenital Heart Disease: a Systematic Review. Journal of Racial and Ethnic Health Disparities, 11(4), 2182–2196. https://doi.org/10.1007/s40615-023-01687-2
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Stephens, S. B., Benjamin, R. H., Lopez, K. N., Anderson, B. R., Lin, A. E., Shumate, C. J., Nembhard, W. N., Morris, S. A., & Agopian, A. J. (2024). Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries. Birth Defects Research, 116(8). Portico. https://doi.org/10.1002/bdr2.2393
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Lewis, M. J., Schlendorf, K. H., & Reardon, L. C. (2024). Integrating risks and benefits: pretransplant assessment and patient selection for heart transplantation in adult congenital heart disease. Current Opinion in Organ Transplantation, 29(5), 305–309. https://doi.org/10.1097/mot.0000000000001170
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Michelon, R. C., & Lucchese-Lobato, F. (2024). A remote parent-led early intervention protocol to promote motor development in infants with congenital heart disease: a feasibility pilot study of a randomized clinical trial. Developmental Neurorehabilitation, 27(3–4), 134–144. https://doi.org/10.1080/17518423.2024.2365796
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Chowdhury, D., Elliott, P. A., Asaki, S. Y., Amdani, S., Nguyen, Q., Ronai, C., Tierney, S., Levy, V. Y., Puri, K., Altman, C. A., Johnson, J. N., & Glickstein, J. S. (2024). Addressing Disparities in Pediatric Congenital Heart Disease: A Call for Equitable Health Care. Journal of the American Heart Association, 13(13). https://doi.org/10.1161/jaha.123.032415
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Crook, S., Dragan, K., Woo, J. L., Neidell, M., Nash, K. A., Jiang, P., Zhang, Y., Sanchez, C. M., Cook, S., Hannan, E. L., Newburger, J. W., Jacobs, M. L., Petit, C. J., Goldstone, A., Vincent, R., Walsh-Spoonhower, K., Mosca, R., Kumar, T. K. S., Devejian, N., … Anderson, B. R. (2024). Impact of Social Determinants of Health on Predictive Models for Outcomes After Congenital Heart Surgery. Journal of the American College of Cardiology, 83(24), 2440–2454. https://doi.org/10.1016/j.jacc.2024.03.430
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Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., & Mone, F. (2024). The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis. Prenatal Diagnosis, 44(6–7), 821–831. Portico. https://doi.org/10.1002/pd.6581
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Kim, Y. Y., Lluri, G., Haeffele, C., Daugherty, T., Krasuski, R. A., Serfas, J. D., de Freitas, R. A., Porlier, A., Lubert, A. M., Wu, F. M., Valente, A. M., Krieger, E. V., Buber, J., Rodriguez, F. H., Gaignard, S., Saraf, A., Hindes, M., Earing, M. G., Lewis, M. J., … Hoteit, M. A. (2023). Hepatocellular carcinoma in survivors after Fontan operation: a case–control study. European Heart Journal, 45(16), 1477–1480. https://doi.org/10.1093/eurheartj/ehad788
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Iliopoulos, I., Mastropietro, C. W., Flores, S., Cheung, E., Amula, V., Radman, M., Kwiatkowski, D., Puente, B. N., Buckley, J. R., Allen, K. Y., Loomba, R., Karki, K. B., Chiwane, S., Cashen, K., Piggott, K., Kapileshwarkar, Y., Gowda, K. M. N., Badheka, A., … Raman, R. (2022). Pulmonary Atresia with Intact Ventricular Septum: Midterm Outcomes from a Multicenter Cohort. Pediatric Cardiology, 45(4), 847–857. https://doi.org/10.1007/s00246-022-02954-5
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DiLorenzo, M. P., Lee, S., Rathod, R. H., Raimondi, F., Farooqi, K. M., Jain, S. S., Samyn, M. M., Johnson, T. R., Olivieri, L. J., Fogel, M. A., Lai, W. W., Renella, P., Powell, A. J., Buddhe, S., Stafford, C., Johnson, J. N., Helbing, W. A., Pushparajah, K., Voges, I., … Grotenhuis, H. B. (2024). Design and implementation of multicenter pediatric and congenital studies with cardiovascular magnetic resonance: Big data in smaller bodies. Journal of Cardiovascular Magnetic Resonance, 26(1), 101041. https://doi.org/10.1016/j.jocmr.2024.101041
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Xiao, F., Zhang, X., Morton, S. U., Kim, S. W., Fan, Y., Gorham, J. M., Zhang, H., Berkson, P. J., Mazumdar, N., Cao, Y., Chen, J., Hagen, J., Liu, X., Zhou, P., Richter, F., Shen, Y., Ward, T., Gelb, B. D., Seidman, J. G., … Pu, W. T. (2024). Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature Genetics, 56(3), 420–430. https://doi.org/10.1038/s41588-024-01669-y
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Epstein, R., Yomogida, M., Donovan, D., Butensky, A., Aidala, A. A., Farooqi, K. M., Shah, A. M., Chelliah, A., & DiLorenzo, M. P. (2024). Trends in cardiac CT utilization for patients with pediatric and congenital heart disease: A multicenter survey study. Journal of Cardiovascular Computed Tomography, 18(3), 267–273. https://doi.org/10.1016/j.jcct.2024.02.002
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Adams, A. D., Lin, J., Bianchi, D. W., Bishop, L., Sato, T., Baxter, L. L., Hoffmann, V., Koehly, L., & Guedj, F. (2024). Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome. American Journal of Obstetrics and Gynecology, 230(2), 258.e1-258.e11. https://doi.org/10.1016/j.ajog.2023.07.056
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Potter, K. L., Richmond, M. E., Goldstone, A. B., & Cheung, E. W. (2023). Association of post-operative ICU requirements with early extubation in the fontan procedure. Cardiology in the Young, 34(2), 356–363. https://doi.org/10.1017/s1047951123001543
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Zhao, E., Bomback, M., Khan, A., Krishna Murthy, S., Solowiejczyk, D., Vora, N. L., Gilmore, K. L., Giordano, J. L., Wapner, R. J., Sanna‐Cherchi, S., Lyford, A., Jelin, A. C., Gharavi, A. G., & Hays, T. (2024). The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease. Prenatal Diagnosis, 44(3), 343–351. Portico. https://doi.org/10.1002/pd.6527
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Quinn, B. P., Gunnelson, L. C., Kotin, S. G., Gauvreau, K., Yeh, M. J., Hasan, B., Lozier, J., Barry, O. M., Shahanavaz, S., Batlivala, S. P., Salavitabar, A., Foerster, S., Goldstein, B., Divekar, A., Holzer, R., Nicholson, G. T., O’Byrne, M. L., Whiteside, W., & Bergersen, L. (2024). Catheterization for Congenital Heart Disease Adjustment for Risk Method II. Circulation: Cardiovascular Interventions, 17(3). https://doi.org/10.1161/circinterventions.123.012834
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Rzasa Lynn, R. S., Henthorn, T. K., Zuk, J., Hammer, G. B., Drover, D. R., Levy, R. J., Maxwell, L. G., Sadhasivam, S., Suresh, S., & Galinkin, J. L. (2024). Multicenter Population Pharmacokinetics of Fentanyl in Neonatal Surgical Patients Using Dried Blood Spot Specimen Collection Demonstrates Maturation of Elimination Clearance. Anesthesia & Analgesia, 138(2), 447–455. https://doi.org/10.1213/ane.0000000000006808
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Peng, D. M., Davies, R. R., Simpson, K. E., Shugh, S. B., Morales, D. L. S., Jacobs, J. P., Butto, A., Joong, A., Conway, J., Schindler, K., Griffiths, E. R., Koehl, D., Cantor, R. S., Kirklin, J. K., Rossano, J. W., & Adachi, I. (2024). Seventh Annual Society of Thoracic Surgeons Pedimacs Report. The Annals of Thoracic Surgery, 117(4), 690–703. https://doi.org/10.1016/j.athoracsur.2023.11.035
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Jayaram, N., Allen, P., Hall, M., Karamlou, T., Woo, J., Crook, S., & Anderson, B. R. (2023). Adjusting for Congenital Heart Surgery Risk Using Administrative Data. Journal of the American College of Cardiology, 82(23), 2212–2221. https://doi.org/10.1016/j.jacc.2023.09.826
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Marella, N. T., Gil, A. M., Fan, W., Aristizabal, C. A., Asrani, P., Harrington, J. K., Channing, A., Setton, M., Shah, A. M., Levasseur, S., Glickstein, J., & Farooqi, K. M. (2023). 3D-Printed Cardiac Models for Fetal Counseling: A Pilot Study and Novel Approach to Improve Communication. Pediatric Cardiology, 44(8), 1800–1807. https://doi.org/10.1007/s00246-023-03177-y
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Maleyeff, L., Newburger, J. W., Wypij, D., Thomas, N. H., Anagnoustou, E., Brueckner, M., Chung, W. K., Cleveland, J., Cunningham, S., Gelb, B. D., Goldmuntz, E., Hagler, D. J., Huang, H., King, E., McQuillen, P., Miller, T. A., Norris‐Brilliant, A., Porter, G. A., Roberts, A. E., … Morton, S. U. (2023). Association of genetic and sulcal traits with executive function in congenital heart disease. Annals of Clinical and Translational Neurology, 11(2), 278–290. Portico. https://doi.org/10.1002/acn3.51950
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Jepson, B. M., Rigsby, C. K., Hlavacek, A. M., Prakash, A., Priya, S., Barfuss, S., Chelliah, A., Binka, E., Nicol, E., Ghoshhajra, B., & Han, B. K. (2023). Proposed competencies for the performance of cardiovascular computed tomography in pediatric and adult congenital heart disease. Journal of Cardiovascular Computed Tomography, 17(5), 295–301. https://doi.org/10.1016/j.jcct.2023.08.002
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Richmond, M. E., Conway, J., Kirklin, J. K., Cantor, R. S., Koehl, D. A., Lal, A. K., McDonald, N., Gajarski, R., Lin, K. Y., Singh, R. K., Fenton, M., Asante‐Korang, A., Amdani, S., Auerbach, S. R., & Everitt, M. D. (2023). Three decades of collaboration through the Pediatric Heart Transplant Society Registry: A journey through registry data with a highlight on children with single ventricle anatomy. Pediatric Transplantation, 28(1). Portico. https://doi.org/10.1111/petr.14615
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Hays, T., Hernan, R., Disco, M., Griffin, E. L., Goldshtrom, N., Vargas, D., Krishnamurthy, G., Bomback, M., Rehman, A. U., Wilson, A. T., Guha, S., Phadke, S., Okur, V., Robinson, D., Felice, V., Abhyankar, A., Jobanputra, V., & Chung, W. K. (2023). Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. Circulation: Genomic and Precision Medicine, 16(5), 415–420. https://doi.org/10.1161/circgen.122.004050
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Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., … Isidor, B. (2023). Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European Journal of Human Genetics, 31(10), 1117–1124. https://doi.org/10.1038/s41431-023-01434-5
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Backer, C. L., Overman, D. M., Dearani, J. A., Romano, J. C., Tweddell, J. S., Kumar, S. R., Marino, B. S., Bacha, E. A., Jaquiss, R. D. B., Zaidi, A. N., Gurvitz, M., Costello, J. M., Pierick, T. A., Ravekes, W. J., Reagor, J. A., St. Louis, J. D., Spaeth, J., Mahle, W. T., Shin, A. Y., … Pasquali, S. K. (2023). Recommendations for Centers Performing Pediatric Heart Surgery in the United States. The Annals of Thoracic Surgery, 116(5), 871–907. https://doi.org/10.1016/j.athoracsur.2023.08.016
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Backer, C. L., Overman, D. M., Dearani, J. A., Romano, J. C., Tweddell, J. S., Kumar, S. R., Marino, B. S., Bacha, E. A., Jaquiss, R. D. B., Zaidi, A. N., Gurvitz, M., Costello, J. M., Pierick, T. A., Ravekes, W. J., Reagor, J. A., St. Louis, J. D., Spaeth, J., Mahle, W. T., Shin, A. Y., … Pasquali, S. K. (2023). Recommendations for centers performing pediatric heart surgery in the United States. The Journal of Thoracic and Cardiovascular Surgery, 166(6), 1782–1820. https://doi.org/10.1016/j.jtcvs.2023.09.001
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Freud, L. R., Galloway, S., Crowley, T. B., Moldenhauer, J., Swillen, A., Breckpot, J., Borrell, A., Vora, N. L., Cuneo, B., Hoffman, H., Gilbert, L., Nowakowska, B., Geremek, M., Kutkowska-Kaźmierczak, A., Vermeesch, J. R., Devriendt, K., Busa, T., Sigaudy, S., Vigneswaran, T., … McDonald-McGinn, D. M. (2024). Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. American Journal of Obstetrics and Gynecology, 230(3), 368.e1-368.e12. https://doi.org/10.1016/j.ajog.2023.09.005
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Nathan, M., Gauvreau, K., White, O., Anderson, B. R., Bacha, E. A., Barron, D. J., Cleveland, J., del Nido, P. J., Eghtesady, P., Galantowicz, M., Kennedy, A., Kohlsaat, K., Ma, M., Mattila, C., Van Arsdell, G., & Gaynor, J. W. (2023). Comparing apples to apples: Exploring public reporting of congenital cardiac surgery outcomes based on common congenital heart operations. The Journal of Thoracic and Cardiovascular Surgery. https://doi.org/10.1016/j.jtcvs.2023.08.052
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de Campos, V. P., Vien, I., Marino, L. V., & Lucchese-Lobato, F. (2023). Translation, cross-cultural adaptation, content validation, and clinical feasibility of the nutritional pathway for infants with congenital heart disease before surgery. Jornal de Pediatria, 99(5), 456–463. https://doi.org/10.1016/j.jped.2023.02.007
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Woo, J. L., Laternser, C., Anderson, B. R., Grobman, W. A., Monge, M. C., & Davis, M. M. (2023). Association Between Prenatal Diagnosis and Age at Surgery for Noncritical and Critical Congenital Heart Defects. Circulation: Cardiovascular Quality and Outcomes, 16(9). https://doi.org/10.1161/circoutcomes.122.009638
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Stewart, L. A., Hernan, R. R., Mardy, C., Hahn, E., Chung, W. K., Bacha, E. A., Krishnamurthy, G., Duron, V. P., & Krishnan, U. S. (2023). Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes. The Journal of Pediatrics, 260, 113530. https://doi.org/10.1016/j.jpeds.2023.113530
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Duong, S. Q., Elfituri, M. O., Zaniletti, I., Ressler, R. W., Noelke, C., Gelb, B. D., Pass, R. H., Horowitz, C. R., Seiden, H. S., & Anderson, B. R. (2023). Neighborhood Childhood Opportunity, Race/Ethnicity, and Surgical Outcomes in Children With Congenital Heart Disease. Journal of the American College of Cardiology, 82(9), 801–813. https://doi.org/10.1016/j.jacc.2023.05.069
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Kalfa, D., Karamichalis, J. M., Singh, S. K., Jiang, P., Anderson, B. R., Vargas, D., Choudhury, T., Habib, A., & Bacha, E. (2023). Operative mortality after Society of Thoracic Surgeons–European Association for Cardio-Thoracic Surgery Mortality Category 1 to 3 procedures: Deficiencies and opportunities for quality improvement. The Journal of Thoracic and Cardiovascular Surgery, 166(2), 325-333.e3. https://doi.org/10.1016/j.jtcvs.2022.11.022
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Chaudhry, P. M., Sen, S., Steurer, M., Levy, V. Y., Gowda, S., Ball, M. K., Ashrafi, A., Emani, S. M., Bacha, E. A., Checchia, P. A., Levy, P. T., & Krishnamurthy, G. (2023). Perioperative Care Models for Neonates With Congenital Heart Disease: Evolving Role of Neonatology Within the Cardiac Intensive Care Unit. World Journal for Pediatric and Congenital Heart Surgery, 14(4), 481–489. https://doi.org/10.1177/21501351231170772
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Lewis, M. J., Reardon, L. C., Aboulhosn, J., Haeffele, C., Chen, S., Kim, Y., Fuller, S., Forbess, L., Alshawabkeh, L., Urey, M. A., Book, W. M., Rodriguez, F., Menachem, J. N., Clark, D. E., Valente, A. M., Carazo, M., Egbe, A., Connolly, H. M., Krieger, E. V., … Rosenbaum, M. (2023). Morbidity and Mortality in Adult Fontan Patients After Heart or Combined Heart-Liver Transplantation. Journal of the American College of Cardiology, 81(22), 2161–2171. https://doi.org/10.1016/j.jacc.2023.03.422
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Cohen, J., Arya, B., Caplan, R., Donofrio, M. T., Ferdman, D., Harrington, J. K., Ho, D. Y., Hogan, W., Hornberger, L. K., Jhaveri, S., Killen, S. A. S., Lindblade, C. L., Michelfelder, E., Moon‐Grady, A. J., Patel, S., Quezada, E., Ronai, C., Sanchez Mejia, A. A., Schidlow, D. N., … Srivastava, S. (2023). Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study. Journal of the American Heart Association, 12(11). https://doi.org/10.1161/jaha.122.029706
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Lewis, M. J., Reardon, L. C., Aboulhosn, J., Haeffele, C., Chen, S., Kim, Y., Fuller, S., Forbess, L., Alshawabkeh, L., Urey, M. A., Book, W. M., Rodriguez, F., Menachem, J. N., Clark, D. E., Valente, A. M., Carazo, M., Egbe, A., Connolly, H. M., Krieger, E. V., … Rosenbaum, M. (2023). Clinical Outcomes of Adult Fontan-Associated Liver Disease and Combined Heart-Liver Transplantation. Journal of the American College of Cardiology, 81(22), 2149–2160. https://doi.org/10.1016/j.jacc.2023.03.421
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Goldshtrom, N., Vasquez, A. M., Chaves, D. V., Bateman, D. A., Kalfa, D., Levasseur, S., Torres, A. J., Bacha, E., & Krishnamurthy, G. (2023). Outcomes after neonatal cardiac surgery: The impact of a dedicated neonatal cardiac program. The Journal of Thoracic and Cardiovascular Surgery, 165(6), 2204-2211.e4. https://doi.org/10.1016/j.jtcvs.2022.06.013
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