Genotype

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Ramírez, A. T., Clifford, G. M., Dillner, J., Kuhn, L., Arbyn, M., Bhatla, N., Wentzensen, N., Sasien, P., Abraham, P., Rol, M. L., Almonte, M., & Basu, P. (2025). Reflections Regarding Validation of New HPV Tests With Reduced HPV Genotypes: Report From an IARC Expert Consultation. Journal of Medical Virology, 97(3). Portico. https://doi.org/10.1002/jmv.70310
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Sutherland, C. S., Schneider, S., Ribero, V. A., Simpson, A., Kokaliaris, C., Scalco, R. S., Guittari, C. J., Gorni, K., De Vivo, D. C., Martens, W. B., & Karrer, T. M. (2025). The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy. Neuromuscular Disorders, 47, 105270. https://doi.org/10.1016/j.nmd.2024.105270
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Karaa, A., Bertini, E., Carelli, V., Cohen, B., Ennes, G. M., Falk, M. J., Goldstein, A., Gorman, G., Haas, R., Hirano, M., Klopstock, T., Koenig, M. K., Kornblum, C., Lamperti, C., Lehman, A., Longo, N., Molnar, M. J., Parikh, S., Phan, H., Pitceathly, R. D. S., … MMPOWER-3 Trial Investigators (2024). Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet journal of rare diseases, 19(1), 431. https://doi.org/10.1186/s13023-024-03421-5

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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
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Kay, D. M., Sadeghi, H., Kier, C., Berdella, M., DeCelie‐Germana, J. K., Soultan, Z. N., Goetz, D. M., Caggana, M., Fortner, C. N., Giusti, R., Kaslovsky, R., Stevens, C., Voter, K., Welter, J. J., & Langfelder‐Schwind, E. (2024). Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes. Pediatric Pulmonology, 59(7), 1952–1961. Portico. https://doi.org/10.1002/ppul.27023
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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
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Ma, S., Dalgleish, J., Lee, J., Wang, C., Liu, L., Gill, R., Buxbaum, J. D., Chung, W. K., Aschard, H., Silverman, E. K., Cho, M. H., He, Z., & Ionita-Laza, I. (2021). Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes. Proceedings of the National Academy of Sciences, 118(47). https://doi.org/10.1073/pnas.2105191118
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