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

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

Bharadwaj, T., Acharya, A., Khan, F. U., Khan, S., Ullah, I., Schrauwen, I., Ahmad, W., & Leal, S. M. (2024). THBS1 is a new autosomal recessive non-syndromic hearing impairment gene. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-02060-w

Jiang, N., Xu, W., Abdelhakim, A., Matveyenko, A., Szabolcs, M., Copeland, W. C., Disco, M., Iglesias, A., Lee, T. M., Naini, A., & Ganapathi, M. (2024). Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy. European Journal of Medical Genetics, 71, 104968. https://doi.org/10.1016/j.ejmg.2024.104968

Nakagawa, S., Carnevali, D., Tan, X., Alvarez, M. J., Parfitt, D.-E., Di Vicino, U., Arumugam, K., Shin, W., Aranda, S., Normanno, D., Sebastian-Perez, R., Cannatá, C., Cortes, P., Neguembor, M. V., Shen, M. M., Califano, A., & Cosma, M. P. (2024). The Wnt-dependent master regulator NKX1-2 controls mouse pre-implantation development. Stem Cell Reports, 19(5), 689–709. https://doi.org/10.1016/j.stemcr.2024.04.004

Nicoletti, P., Zafer, S., Matok, L., Irron, I., Patrick, M., Haklai, R., Evangelista, J. E., Marino, G. B., Ma’ayan, A., Sewda, A., Holmes, G., Britton, S. R., Lee, W. J., Wu, M., Ru, Y., Arnaud, E., Botto, L., Brody, L. C., Byren, J. C., … Peter, I. (2024). Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. Genetics in Medicine Open, 2, 101851. https://doi.org/10.1016/j.gimo.2024.101851

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

Miura, A., Sarmah, H., Tanaka, J., Hwang, Y., Sawada, A., Shimamura, Y., Otoshi, T., Kondo, Y., Fang, Y., Shimizu, D., Ninish, Z., Suer, J. L., Dubois, N. C., Davis, J., Toyooka, S., Wu, J., Que, J., Hawkins, F. J., Lin, C.-S., & Mori, M. (2023). Conditional blastocyst complementation of a defective Foxa2 lineage efficiently promotes the generation of the whole lung. ELife, 12. CLOCKSS. https://doi.org/10.7554/elife.86105

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

Chen, F., Köhler, M., Cucun, G., Takamiya, M., Kizil, C., Cosacak, M. I., & Rastegar, S. (2023). sox1a:eGFP transgenic line and single-cell transcriptomics reveal the origin of zebrafish intraspinal serotonergic neurons. IScience, 26(8), 107342. https://doi.org/10.1016/j.isci.2023.107342

Jang, M. Y., Patel, P. N., Pereira, A. C., Willcox, J. A. L., Haghighi, A., Tai, A. C., Ito, K., Morton, S. U., Gorham, J. M., McKean, D. M., DePalma, S. R., Bernstein, D., Brueckner, M., Chung, W. K., Giardini, A., Goldmuntz, E., Kaltman, J. R., Kim, R., Newburger, J. W., … Seidman, J. G. (2023). Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation: Genomic and Precision Medicine, 16(3), 224–231. https://doi.org/10.1161/circgen.122.003924

Griffin, E. L., Nees, S. N., Morton, S. U., Wynn, J., Patel, N., Jobanputra, V., Robinson, S., Kochav, S. M., Tao, A., Andrews, C., Cross, N., Geva, J., Lanzilotta, K., Ritter, A., Taillie, E., Thompson, A., Meyer, C., Akers, R., King, E. C., … Chung, W. K. (2023). Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation: Genomic and Precision Medicine, 16(2). https://doi.org/10.1161/circgen.122.003791

Liao, X., Kennel, P. J., Liu, B., Nash, T. R., Zhuang, R. Z., Godier-Furnemont, A. F., Xue, C., Lu, R., Colombo, P. C., Uriel, N., Reilly, M. P., Marx, S. O., Vunjak-Novakovic, G., & Topkara, V. K. (2023). Effect of mechanical unloading on genome-wide DNA methylation profile of the failing human heart. JCI Insight, 8(4). https://doi.org/10.1172/jci.insight.161788

Morton, S. U., Norris-Brilliant, A., Cunningham, S., King, E., Goldmuntz, E., Brueckner, M., Miller, T. A., Thomas, N. H., Liu, C., Adams, H. R., Bellinger, D. C., Cleveland, J., Cnota, J. F., Dale, A. M., Frommelt, M., Gelb, B. D., Grant, P. E., Goldberg, C. S., Huang, H., … Newburger, J. W. (2023). Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Network Open, 6(1), e2253191. https://doi.org/10.1001/jamanetworkopen.2022.53191

Ganapathi, M., Buchovecky, C. M., Cristo, F., Ahimaz, P., Ruzal-Shapiro, C., Wou, K., Inácio, J. M., Iglesias, A., Belo, J. A., & Jobanputra, V. (2022). A novel biallelic loss-of-function variant inDAND5causes heterotaxy syndrome. Molecular Case Studies, 8(7), a006248. https://doi.org/10.1101/mcs.a006248

Adadey, S. M., Aboagye, E. T., Esoh, K., Acharya, A., Bharadwaj, T., Lin, N. S., Amenga-Etego, L., Awandare, G. A., Schrauwen, I., Leal, S. M., & Wonkam, A. (2022). A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. BMC Medical Genomics, 15(1). https://doi.org/10.1186/s12920-022-01391-w

Barua, S., Pereira, E. M., Jobanputra, V., Anyane-Yeboa, K., Levy, B., & Liao, J. (2022). 3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities. Molecular Cytogenetics, 15(1). https://doi.org/10.1186/s13039-022-00587-0

Shen, S., Sewanan, L. R., Shao, S., Halder, S. S., Stankey, P., Li, X., & Campbell, S. G. (2022). Physiological calcium combined with electrical pacing accelerates maturation of human engineered heart tissue. Stem Cell Reports, 17(9), 2037–2049. https://doi.org/10.1016/j.stemcr.2022.07.006

Hwang, I.-S., Shim, J., Oh, K. B., Lee, H., & Park, M.-R. (2022). cd26 Knockdown Negatively Affects Porcine Parthenogenetic Preimplantation Embryo Development. Animals, 12(13), 1662. https://doi.org/10.3390/ani12131662

Azab, B., Aburizeg, D., Ji, W., Jeffries, L., Isbeih, N., Al‑Akily, A., Mohammad, H., Osba, Y., Shahin, M., Dardas, Z., Hatmal, M., Al‑Ammouri, I., & Lakhani, S. (2022). TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects. Molecular Medicine Reports, 25(6). https://doi.org/10.3892/mmr.2022.12726

Tortigue, M., Nield, L. E., Karakachoff, M., McLeod, C. J., Belli, E., Babu-Narayan, S. V., Prigent, S., Boet, A., Conway, M., Elder, R. W., Ladouceur, M., Khairy, P., Kowalik, E., Kalfa, D. M., Barron, D. J., Mussa, S., Hiippala, A., Temple, J., Abadir, S., … Baruteau, A.-E. (2022). Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study. Circulation: Genomic and Precision Medicine, 15(3). https://doi.org/10.1161/circgen.121.003464

Willcox, J. A. L., Geiger, J. T., Morton, S. U., McKean, D., Quiat, D., Gorham, J. M., Tai, A. C., DePalma, S., Bernstein, D., Brueckner, M., Chung, W. K., Giardini, A., Goldmuntz, E., Kaltman, J. R., Kim, R., Newburger, J. W., Shen, Y., Srivastava, D., Tristani-Firouzi, M., … Seidman, C. E. (2022). Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. The American Journal of Human Genetics, 109(5), 961–966. https://doi.org/10.1016/j.ajhg.2022.03.011

Gudigar, A., U., R., Samanth, J., Vasudeva, A., A. J., A. A., Nayak, K., Tan, R.-S., Ciaccio, E. J., Ooi, C. P., Barua, P. D., Molinari, F., & Acharya, U. R. (2022). Role of Four-Chamber Heart Ultrasound Images in Automatic Assessment of Fetal Heart: A Systematic Understanding. Informatics, 9(2), 34. https://doi.org/10.3390/informatics9020034

Morton, S. U., Pereira, A. C., Quiat, D., Richter, F., Kitaygorodsky, A., Hagen, J., Bernstein, D., Brueckner, M., Goldmuntz, E., Kim, R. W., Lifton, R. P., Porter, G. A., Tristani-Firouzi, M., Chung, W. K., Roberts, A., Gelb, B. D., Shen, Y., Newburger, J. W., Seidman, J. G., & Seidman, C. E. (2022). Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation: Genomic and Precision Medicine, 15(2). https://doi.org/10.1161/circgen.121.003500

Bharadwaj, T., Schrauwen, I., Acharya, A., Nouel‐Saied, L. M., Väisänen, M., Kraatari, M., Rahikkala, E., Jarvela, I., Kotimäki, J., & Leal, S. M. (2022). Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular Genetics & Genomic Medicine, 10(3). Portico. https://doi.org/10.1002/mgg3.1866

Baptiste, C., & Pereira, E. (2022). eP079: Cerebellar atrophy, developmental delay and a VUS in the THG1L gene: A case report. Genetics in Medicine, 24(3), S52. https://doi.org/10.1016/j.gim.2022.01.116

Ware, S. M., Bhatnagar, S., Dexheimer, P. J., Wilkinson, J. D., Sridhar, A., Fan, X., Shen, Y., Tariq, M., Schubert, J. A., Colan, S. D., Shi, L., Canter, C. E., Hsu, D. T., Bansal, N., Webber, S. A., Everitt, M. D., Kantor, P. F., Rossano, J. W., Pahl, E., … Lipshultz, S. E. (2022). The genetic architecture of pediatric cardiomyopathy. The American Journal of Human Genetics, 109(2), 282–298. https://doi.org/10.1016/j.ajhg.2021.12.006

Dar, P., Jacobsson, B., Clifton, R., Egbert, M., Malone, F., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Edwards, L., Strong, N., Haeri, S., Silver, R., Vohra, N., Hyett, J., Demko, Z., Martin, K., Rabinowitz, M., … Norton, M. E. (2022). Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. American Journal of Obstetrics and Gynecology, 227(1), 79.e1-79.e11. https://doi.org/10.1016/j.ajog.2022.01.002

Welch, C. L., & Chung, W. K. (2021). Genomics of Pulmonary Hypertension. Advances in Pulmonary Hypertension, 20(5), 142–149. https://doi.org/10.21693/1933-088x-20.5.142