Young, R. E., Zuccaro, M. V., LeDuc, C. A., Germain, N. D., Kim, T. H., Sarmiere, P., & Chung, W. K. (2025). Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown. Human Genetics and Genomics Advances, 6(3), 100450. https://doi.org/10.1016/j.xhgg.2025.100450

Tang, S., Liu, S., Buchman, A. S., Bennett, D. A., De Jager, P. L., Yang, J., & Hu, J. (2025). Integrating spatial transcriptomics and snRNA-seq data enhances differential gene expression analysis results of AD-related phenotypes. Human Genetics and Genomics Advances, 6(3), 100447. https://doi.org/10.1016/j.xhgg.2025.100447

Darko, M. E., Kappy, M., Rabizadeh, D., Jalas, C., Forman, E. J., Brady, P., & Williams, Z. (2025). A Variant in RNF212B May Contribute to Female Infertility and Recurrent Pregnancy Loss. Human Genetics and Genomics Advances, 100443. https://doi.org/10.1016/j.xhgg.2025.100443

Yalcouyé, A., Schrauwen, I., Traoré, O., Bamba, S., Aboagye, E. T., Acharya, A., Bharadwaj, T., Latanich, R., Esoh, K., Fortes-Lima, C. A., de Kock, C., Jonas, M., Maiga, A. dit B., Cissé, C. A. K., Sangaré, M. A., Guinto, C. O., Landouré, G., Leal, S. M., & Wonkam, A. (2025). Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali. Human Genetics and Genomics Advances, 6(1), 100391. https://doi.org/10.1016/j.xhgg.2024.100391

Sabatello, M., Bakken, S., Chung, W. K., Cohn, E., Crew, K. D., Kiryluk, K., Kukafka, R., Weng, C., & Appelbaum, P. S. (2024). Return of polygenic risk scores in research: Stakeholders’ views on the eMERGE-IV study. Human Genetics and Genomics Advances, 5(2), 100281. https://doi.org/10.1016/j.xhgg.2024.100281

Jungels, A., Demers, L., Ford, E., Stevens, B. K., Sabatello, M., & Dasgupta, S. (2023). Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling. Human Genetics and Genomics Advances, 4(4), 100228. https://doi.org/10.1016/j.xhgg.2023.100228

Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K., Whelan, L., Cornelis, S. S., Hoyng, C. B., Kämpjärvi, K., Klaver, C. C. W., Liskova, P., Stöhr, H., Weber, B. H. F., Banfi, S., Farrar, G. J., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability. Human Genetics and Genomics Advances, 4(4), 100237. https://doi.org/10.1016/j.xhgg.2023.100237

Bentz, M., Saperstein, A., Fullerton, S. M., Shim, J. K., & Lee, S. S.-J. (2024). Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course. Human Genetics and Genomics Advances, 5(1), 100243. https://doi.org/10.1016/j.xhgg.2023.100243

Padgett, L. R., Shinkle, M. R., Rosario, S., Stewart, T. M., Foley, J. R., Casero, R. A., Park, M. H., Chung, W. K., & Mastracci, T. L. (2023). Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. Human Genetics and Genomics Advances, 4(3), 100206. https://doi.org/10.1016/j.xhgg.2023.100206

Young, K. L., Fisher, V., Deng, X., Brody, J. A., Graff, M., Lim, E., Lin, B. M., Xu, H., Amin, N., An, P., Aslibekyan, S., Fohner, A. E., Hidalgo, B., Lenzini, P., Kraaij, R., Medina-Gomez, C., Prokić, I., Rivadeneira, F., Sitlani, C., … Liu, C.-T. (2023). Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants. Human Genetics and Genomics Advances, 4(1), 100163. https://doi.org/10.1016/j.xhgg.2022.100163

Chen, J., Wang, L., De Jager, P. L., Bennett, D. A., Buchman, A. S., & Yang, J. (2022). A scalable Bayesian functional GWAS method accounting for multivariate quantitative functional annotations with applications for studying Alzheimer disease. Human Genetics and Genomics Advances, 3(4), 100143. https://doi.org/10.1016/j.xhgg.2022.100143

Zhong, G., Ahimaz, P., Edwards, N. A., Hagen, J. J., Faure, C., Lu, Q., Kingma, P., Middlesworth, W., Khlevner, J., El Fiky, M., Schindel, D., Fialkowski, E., Kashyap, A., Forlenza, S., Kenny, A. P., Zorn, A. M., Shen, Y., & Chung, W. K. (2022). Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. Human Genetics and Genomics Advances, 3(3), 100107. https://doi.org/10.1016/j.xhgg.2022.100107

Zhang, C., Jolly, A., Shayota, B. J., Mazzeu, J. F., Du, H., Dawood, M., Soper, P. C., Ramalho de Lima, A., Ferreira, B. M., Coban-Akdemir, Z., White, J., Shears, D., Thomson, F. R., Douglas, S. L., Wainwright, A., Bailey, K., Wordsworth, P., Oldridge, M., Lester, T., … Carvalho, C. M. B. (2022). Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. Human Genetics and Genomics Advances, 3(1), 100074. https://doi.org/10.1016/j.xhgg.2021.100074

Sun, D., Richard, M. A., Musani, S. K., Sung, Y. J., Winkler, T. W., Schwander, K., Chai, J. F., Guo, X., Kilpeläinen, T. O., Vojinovic, D., Aschard, H., Bartz, T. M., Bielak, L. F., Brown, M. R., Chitrala, K., Hartwig, F. P., Horimoto, A. R. V. R., Liu, Y., Manning, A. K., … Fornage, M. (2021). Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits. Human Genetics and Genomics Advances, 2(1), 100013. https://doi.org/10.1016/j.xhgg.2020.100013