Matentzoglu, N., Bello, S. M., Stefancsik, R., Alghamdi, S. M., Anagnostopoulos, A. V., Balhoff, J. P., Balk, M. A., Bradford, Y. M., Bridges, Y., Callahan, T. J., Caufield, H., Cuzick, A., Carmody, L. C., Caron, A. R., de Souza, V., Engel, S. R., Fey, P., Fisher, M., Gehrke, S., … Osumi-Sutherland, D. (2025). The Unified Phenotype Ontology : a framework for cross-species integrative phenomics. GENETICS, 229(3). https://doi.org/10.1093/genetics/iyaf027

Putcha, D., Katsumi, Y., Touroutoglou, A., Eloyan, A., Taurone, A., Thangarajah, M., Aisen, P., Dage, J. L., Foroud, T., Jack, C. R., Kramer, J. H., Nudelman, K. N. H., Raman, R., Vemuri, P., Atri, A., Day, G. S., Duara, R., Graff-Radford, N. R., Grant, I. M., … Honig, L. S. (2025). Heterogeneous clinical phenotypes of sporadic early-onset Alzheimer’s disease: a neuropsychological data-driven approach. Alzheimer’s Research & Therapy, 17(1). https://doi.org/10.1186/s13195-025-01689-8

Goldstein, O., Shani, S., Gana-Weisz, M., Elkoshi, N., Casey, F., Sun, Y. H., Chandratre, K., Cedarbaum, J. M., Blauwendraat, C., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Orr-Urtreger, A., & Alcalay, R. N. (2025). The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241310722

Stewart, O., Gruber, C., Randolph, H. E., Patel, R., Ramba, M., Calzoni, E., Huang, L. H., Levy, J., Buta, S., Lee, A., Sazeides, C., Prue, Z., Hoytema van Konijnenburg, D. P., Chinn, I. K., Pedroza, L. A., Lupski, J. R., Schmitt, E. G., Cooper, M. A., Puel, A., … Bogunovic, D. (2025). Monoallelic expression can govern penetrance of inborn errors of immunity. Nature, 637(8048), 1186–1197. https://doi.org/10.1038/s41586-024-08346-4

Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., Calle-Martín, O. de la, Capra, V., Cardenas, P., … Lessel, D. (2025). DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.012

Basile, A. O., Verma, A., Tang, L. A., Serper, M., Scanga, A., Farrell, A., Destin, B., Carr, R. M., Anyanwu‐Ofili, A., Rajagopal, G., Krikhely, A., Bessler, M., Reilly, M. P., Ritchie, M. D., Tatonetti, N. P., & Wattacheril, J. (2024). Rapid identification and phenotyping of nonalcoholic fatty liver disease patients using a machine‐based approach in diverse healthcare systems. Clinical and Translational Science, 18(1). Portico. https://doi.org/10.1111/cts.70105

Choi, N. H., Cherny, S., Berul, C. I., Goodyer, W. R., Howard, T. S., Joong, A., Liberman, L., Silver, E. S., Villa, C. R., Lee, T. M., & Zuckerman, W. A. (2024). Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy. Circulation: Arrhythmia and Electrophysiology, 17(11). https://doi.org/10.1161/circep.124.013114

Santana Almansa, A., Snyder, L. G., Chung, W. K., Bain, J. M., & Srivastava, S. (2024). Motor phenotypes associated with genetic neurodevelopmental disorders. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52231

Sudnawa, K. K., Li, W., Calamia, S., Kanner, C. H., Bain, J. M., Abdelhakim, A. H., Geltzeiler, A., Mebane, C. M., Provenzano, F. A., Sands, T. T., Fee, R. J., Montes, J., Shen, Y., & Chung, W. K. (2024). Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genetics in Medicine, 26(8), 101169. https://doi.org/10.1016/j.gim.2024.101169

Hrytsenko, Y., Shea, B., Elgart, M., Kurniansyah, N., Lyons, G., Morrison, A. C., Carson, A. P., Haring, B., Mitchell, B. D., Psaty, B. M., Jaeger, B. C., Gu, C. C., Kooperberg, C., Levy, D., Lloyd-Jones, D., Choi, E., Brody, J. A., Smith, J. A., Rotter, J. I., … Sofer, T. (2024). Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-62945-9

Mao, Z., Betti, M. J., Cedeno, M. A., Pedroza, L. A., Basaria, S., Liu, Q., Choi, J. M., & Markle, J. G. (2023). Clinical and cellular phenotypes resulting from a founder mutation in IL10RB. Clinical and Experimental Immunology, 216(2), 113–119. https://doi.org/10.1093/cei/uxad085

Hébert, J., De Santis, R. J., Daniyal, L., Mannan, S., Ng, E., Thain, E., Sanabria-Salas, M. C., Kim, R. H., Bril, V., & Reid, A. Y. (2024). Epilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults. Epilepsy Research, 202, 107336. https://doi.org/10.1016/j.eplepsyres.2024.107336

Gutierrez, J., Bos, D., Turan, T. N., Hoh, B., Hilal, S., Arenillas, J. F., Schneider, J. A., Chimowitz I., M., & Morgello, S. (2024). Pathology-based brain arterial disease phenotypes and their radiographic correlates. Journal of Stroke and Cerebrovascular Diseases, 33(6), 107642. https://doi.org/10.1016/j.jstrokecerebrovasdis.2024.107642

Papaioannou, V. E., & Behringer, R. R. (2023). Getting around an Early Lethal Phenotype in Mice with Chimeras. Cold Spring Harbor Protocols, 2024(1), pdb.over107979. https://doi.org/10.1101/pdb.over107979

Greene, A. S., Shen, X., Noble, S., Horien, C., Hahn, C. A., Arora, J., Tokoglu, F., Spann, M. N., Carrión, C. I., Barron, D. S., Sanacora, G., Srihari, V. H., Woods, S. W., Scheinost, D., & Constable, R. T. (2022). Brain–phenotype models fail for individuals who defy sample stereotypes. Nature, 609(7925), 109–118. https://doi.org/10.1038/s41586-022-05118-w