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Lee, J. C., Chung, W. K., Pisapia, D. J., & Henderson, C. E. (2024). Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddae190

Pavešković, M., De-Paula, R. B., Ojelade, S. A., Tantry, E. K., Kochukov, M. Y., Bao, S., Veeraragavan, S., Garza, A. R., Srivastava, S., Song, S.-Y., Fujita, M., Duong, D. M., Bennett, D. A., De Jager, P. L., Seyfried, N. T., Dickinson, M. E., Heaney, J. D., Arenkiel, B. R., & Shulman, J. M. (2024). Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddae115

Kharaghani, A., Tio, E. S., Milic, M., Bennett, D. A., De Jager, P. L., Schneider, J. A., Sun, L., & Felsky, D. (2024). Association of whole-person eigen-polygenic risk scores with Alzheimer’s disease. Human Molecular Genetics, 33(15), 1315–1327. https://doi.org/10.1093/hmg/ddae067

Wong, J. Y. Y., Blechter, B., Liu, Z., Shi, J., & Roger, V. L. (2024). Genetic susceptibility to chronic diseases leads to heart failure among Europeans: the influence of leukocyte telomere length. Human Molecular Genetics, 33(14), 1262–1272. https://doi.org/10.1093/hmg/ddae063

Myers, S. J., Yuan, H., Perszyk, R. E., Zhang, J., Kim, S., Nocilla, K. A., Allen, J. P., Bain, J. M., Lemke, J. R., Lal, D., Benke, T. A., & Traynelis, S. F. (2023). Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Human Molecular Genetics, 32(19), 2857–2871. https://doi.org/10.1093/hmg/ddad104

Schrauwen, I., Ghaffar, A., Bharadwaj, T., Shah, K., Rehman, S., Acharya, A., Liaqat, K., Lin, N. S., Everard, J. L., Khan, A., Ahmed, Z. M., Ahmad, W., Riazuddin, S., & Leal, S. M. (2022). Syntaxin 4 is essential for hearing in human and zebrafish. Human Molecular Genetics, 32(7), 1184–1192. https://doi.org/10.1093/hmg/ddac257

Flex, E., Albadri, S., Radio, F. C., Cecchetti, S., Lauri, A., Priolo, M., Kissopoulos, M., Carpentieri, G., Fasano, G., Venditti, M., Magliocca, V., Bellacchio, E., Welch, C. L., Colombo, P. C., Kochav, S. M., Chang, R., Barrick, R., Trivisano, M., Micalizzi, A., … Tartaglia, M. (2022). Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Human Molecular Genetics, 32(3), 473–488. https://doi.org/10.1093/hmg/ddac213

McGee, S. R., Rajamanickam, S., Adhikari, S., Falayi, O. C., Wilson, T. A., Shayota, B. J., Cooley Coleman, J. A., Skinner, C., Caylor, R. C., Stevenson, R. E., Quaio, C. R. D. A. C., Wilke, B. C., Bain, J. M., Anyane-Yeboa, K., Brown, K., Greally, J. M., Bijlsma, E. K., Ruivenkamp, C. A. L., Politi, K., … Jensik, P. J. (2022). Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human Molecular Genetics, 32(3), 386–401. https://doi.org/10.1093/hmg/ddac200

Murray, G. C., Bais, P., Hatton, C. L., Tadenev, A. L. D., Hoffmann, B. R., Stodola, T. J., Morelli, K. H., Pratt, S. L., Schroeder, D., Doty, R., Fiehn, O., John, S. W. M., Bult, C. J., Cox, G. A., & Burgess, R. W. (2022). Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology. Human Molecular Genetics, 31(23), 4055–4074. https://doi.org/10.1093/hmg/ddac151

Kim, W., Hecker, J., Barr, R. G., Boerwinkle, E., Cade, B., Correa, A., Dupuis, J., Gharib, S. A., Lange, L., London, S. J., Morrison, A. C., O’Connor, G. T., Oelsner, E. C., Psaty, B. M., Vasan, R. S., Redline, S., Rich, S. S., Rotter, J. I., … Yu, B. (2022). Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Human Molecular Genetics, 31(22), 3873–3885. https://doi.org/10.1093/hmg/ddac117

Dressman, D., Buttrick, T., Cimpean, M., Bennett, D., Menon, V., Bradshaw, E. M., Vardarajan, B., & Elyaman, W. (2022). Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease. Human Molecular Genetics, 31(19), 3355–3366. https://doi.org/10.1093/hmg/ddac126

Caballero, M., Ge, T., Rebelo, A. R., Seo, S., Kim, S., Brooks, K., Zuccaro, M., Kanagaraj, R., Vershkov, D., Kim, D., Smogorzewska, A., Smolka, M., Benvenisty, N., West, S. C., Egli, D., Mace, E. M., & Koren, A. (2022). Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role forMCM10in replication timing regulation. Human Molecular Genetics, 31(17), 2899–2917. https://doi.org/10.1093/hmg/ddac082

Du, F., Yu, Q., Kanaan, N. M., & Yan, S. S. (2022). Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer’s disease. Human Molecular Genetics, 31(15), 2498–2507. https://doi.org/10.1093/hmg/ddab363

Cui, X., Kim, H. J., Cheng, C.-H., Jenny, L. A., Lima de Carvalho, J. R., Chang, Y.-J., Kong, Y., Hsu, C.-W., Huang, I.-W., Ragi, S. D., Lin, C.-S., Li, X., Sparrow, J. R., & Tsang, S. H. (2022). Long-term vitamin A supplementation in a preclinical mouse model forRhoD190N-associated retinitis pigmentosa. Human Molecular Genetics, 31(14), 2438–2451. https://doi.org/10.1093/hmg/ddac032

Steffen, B. T., Pankow, J. S., Lutsey, P. L., Demmer, R. T., Misialek, J. R., Guan, W., Cowan, L. T., Coresh, J., Norby, F. L., & Tang, W. (2022). Proteomic profiling identifies novel proteins for genetic risk of severe COVID-19: the Atherosclerosis Risk in Communities Study. Human Molecular Genetics, 31(14), 2452–2461. https://doi.org/10.1093/hmg/ddac024

Barish, S., Senturk, M., Schoch, K., Minogue, A. L., Lopergolo, D., Fallerini, C., Harland, J., Seemann, J. H., Stong, N., Kranz, P. G., Kansagra, S., Mikati, M. A., Jasien, J., El-Dairi, M., Galluzzi, P., Acosta, M. T., Adam, M., Adams, D. R., … Bellen, H. J. (2022). The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics, 31(17), 2934–2950. https://doi.org/10.1093/hmg/ddac085

Green, T. E., Motelow, J. E., Bennett, M. F., Ye, Z., Bennett, C. A., Griffin, N. G., Damiano, J. A., Leventer, R. J., Freeman, J. L., Harvey, A. S., Lockhart, P. J., Sadleir, L. G., Boys, A., Scheffer, I. E., Major, H., Darbro, B. W., Bahlo, M., Goldstein, D. B., Kerrigan, J. F., … Hildebrand, M. S. (2022). Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human Molecular Genetics, 31(14), 2307–2316. https://doi.org/10.1093/hmg/ddab366