Sariya, S., & Tosto, G. (2024). GARCOM: A user-friendly R package for genetic mutation counts. F1000Research, 10, 524. https://doi.org/10.12688/f1000research.53858.2

da Costa, B. L., Pincay, J., Brodie, S. E., Tsang, S. H., & Quinn, P. M. J. (2025). Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 Mutation. Retinal Degenerative Diseases XX, 113–118. https://doi.org/10.1007/978-3-031-76550-6_19

Diaz, M., & Pan, P. C. (2025). Management of Low-Grade Gliomas. The Cancer Journal, 31(1). https://doi.org/10.1097/ppo.0000000000000760

Dillon, M. N., Dickey, A. N., Roberts, R. B., Betz, J. A., Mousseau, T. A., Kleiman, N. J., & Breen, M. (2024). Is increased mutation driving genetic diversity in dogs within the Chornobyl exclusion zone? PLOS ONE, 19(12), e0315244. https://doi.org/10.1371/journal.pone.0315244

Dimitriou, F., Orloff, M. M., Koch Hein, E. C., Cheng, P. F., Hughes, I. F., Simeone, E., Montazeri, K., Grover, P., Mehmi, I., Gerard, C. L., Gaudy-Marqueste, C., Grob, J.-J., Michielin, O., Hamid, O., Long, G. V., Sullivan, R., Kapiteijn, E., Johnson, D. B., Ascierto, P. A., … Dummer, R. (2025). Treatment sequence with tebentafusp and immune checkpoint inhibitors in patients with metastatic uveal melanoma and metastatic GNA11/GNAQ mutant melanocytic tumors. European Journal of Cancer, 214, 115161. https://doi.org/10.1016/j.ejca.2024.115161

Gui, G., Ravindra, N., Hegde, P. S., Andrew, G., Mukherjee, D., Wong, Z., Auletta, J. J., El Chaer, F., Chen, E. C., Chen, Y.-B., Corner, A., Devine, S. M., Iyer, S. G., Jimenez Jimenez, A. M., De Lima, M. J. G., Litzow, M. R., Kebriaei, P., Saber, W., Spellman, S. R., … Hourigan, C. S. (2024). Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia. Bone Marrow Transplantation. https://doi.org/10.1038/s41409-024-02447-4

Wang, Q., Mellis, I. A., Ho, J., Bowen, A., Kowalski-Dobson, T., Valdez, R., Katsamba, P. S., Wu, M., Lee, C., Shapiro, L., Gordon, A., Guo, Y., Ho, D. D., & Liu, L. (2024). Recurrent SARS-CoV-2 spike mutations confer growth advantages to select JN.1 sublineages. Emerging Microbes & Infections, 13(1). https://doi.org/10.1080/22221751.2024.2402880

Jhaveri, K. L., Accordino, M. K., Bedard, P. L., Cervantes, A., Gambardella, V., Hamilton, E., Italiano, A., Kalinsky, K., Krop, I. E., Oliveira, M., Schmid, P., Saura, C., Turner, N. C., Varga, A., Cheeti, S., Hilz, S., Hutchinson, K. E., Jin, Y., Royer-Joo, S., … Juric, D. (2024). Phase I/Ib Trial of Inavolisib Plus Palbociclib and Endocrine Therapy for PIK3CA-Mutated, Hormone Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative Advanced or Metastatic Breast Cancer. Journal of Clinical Oncology, 42(33), 3947–3956. https://doi.org/10.1200/jco.24.00110

Tomasello, D. L., Barrasa, M. I., Mankus, D., Alarcon, K. I., Lytton-Jean, A. K. R., Liu, X. S., & Jaenisch, R. (2024). Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-71040-y

Furtado, L. V., Bifulco, C., Dolderer, D., Hsiao, S. J., Kipp, B. R., Lindeman, N. I., Ritterhouse, L. L., Temple-Smolkin, R. L., Zehir, A., & Nowak, J. A. (2024). Recommendations for Tumor Mutational Burden Assay Validation and Reporting. The Journal of Molecular Diagnostics, 26(8), 653–668. https://doi.org/10.1016/j.jmoldx.2024.05.002

van Tartwijk, F. W., Wunderlich, L. C. S., Mela, I., Makarchuk, S., Jakobs, M. A. H., Qamar, S., Franze, K., Kaminski Schierle, G. S., St George-Hyslop, P. H., Lin, J. Q., Holt, C. E., & Kaminski, C. F. (2024). Mutation of the ALS-/FTD-Associated RNA-Binding Protein FUS Affects Axonal Development. The Journal of Neuroscience, 44(27), e2148232024. https://doi.org/10.1523/jneurosci.2148-23.2024

Xu, C., Bao, S., Wang, Y., Li, W., Chen, H., Shen, Y., Jiang, T., & Zhang, C. (2024). Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences. Genome Research, 34(7), 1052–1065. https://doi.org/10.1101/gr.279044.124

Xu, Z. M., Gnouamozi, G. E., Rüeger, S., Shea, P. R., Buti, M., Chan, H. LY., Marcellin, P., Lawless, D., Naret, O., Zeller, M., Schneuing, A., Scheck, A., Junier, T., Moradpour, D., Podlaha, O., Suri, V., Gaggar, A., Subramanian, M., Correia, B., … Fellay, J. (2024). Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation. The American Journal of Human Genetics, 111(6), 1018–1034. https://doi.org/10.1016/j.ajhg.2024.04.013

Arrillaga-Romany, I., Lassman, A., McGovern, S. L., Mueller, S., Nabors, B., van den Bent, M., Vogelbaum, M. A., Allen, J. E., Melemed, A. S., Tarapore, R. S., Wen, P. Y., & Cloughesy, T. (2024). ACTION: a randomized phase 3 study of ONC201 (dordaviprone) in patients with newly diagnosed H3 K27M-mutant diffuse glioma. Neuro-Oncology, 26(Supplement_2), S173–S181. https://doi.org/10.1093/neuonc/noae031

Riabov, V., Xu, Q., Schmitt, N., Streuer, A., Ge, G., Bolanos, L., Wunderlich, M., Jann, J.-C., Wein, A., Altrock, E., Demmerle, M., Mukherjee, S., Ali, A. M., Rapp, F., Nowak, V., Weimer, N., Obländer, J., Palme, I., Göl, M., … Nowak, D. (2023). <i>ASXL1</i> mutations are associated with a response to alvocidib and 5-azacytidine combination in myelodysplastic neoplasms. Haematologica, 0–0. https://doi.org/10.3324/haematol.2023.282921

Arrillaga-Romany, I., Gardner, S. L., Odia, Y., Aguilera, D., Allen, J. E., Batchelor, T., Butowski, N., Chen, C., Cloughesy, T., Cluster, A., de Groot, J., Dixit, K. S., Graber, J. J., Haggiagi, A. M., Harrison, R. A., Kheradpour, A., Kilburn, L. B., Kurz, S. C., Lu, G., … Wen, P. Y. (2024). ONC201 (Dordaviprone) in Recurrent H3 K27M–Mutant Diffuse Midline Glioma. Journal of Clinical Oncology, 42(13), 1542–1552. https://doi.org/10.1200/jco.23.01134

Papaioannou, V. E., & Behringer, R. R. (2023). Establishing Control Frequency of Embryonic and Fetal Loss in a Mutant Mouse Colony. Cold Spring Harbor Protocols, 2024(1), pdb.prot108083. https://doi.org/10.1101/pdb.prot108083

Papaioannou, V. E., & Behringer, R. R. (2023). Special Breeding Techniques for Use in Mouse Mutation Analysis. Cold Spring Harbor Protocols, 2024(1), pdb.over107961. https://doi.org/10.1101/pdb.over107961

McClellan, J. M., Zoghbi, A. W., Buxbaum, J. D., Cappi, C., Crowley, J. J., Flint, J., Grice, D. E., Gulsuner, S., Iyegbe, C., Jain, S., Kuo, P.-H., Lattig, M. C., Passos-Bueno, M. R., Purushottam, M., Stein, D. J., Sunshine, A. B., Susser, E. S., Walsh, C. A., Wootton, O., & King, M.-C. (2024). An evolutionary perspective on complex neuropsychiatric disease. Neuron, 112(1), 7–24. https://doi.org/10.1016/j.neuron.2023.10.037

Wang, Q., Guo, Y., Iketani, S., Nair, M. S., Li, Z., Mohri, H., Wang, M., Yu, J., Bowen, A. D., Chang, J. Y., Shah, J. G., Nguyen, N., Chen, Z., Meyers, K., Yin, M. T., Sobieszczyk, M. E., Sheng, Z., Huang, Y., Liu, L., & Ho, D. D. (2022). Antibody evasion by SARS-CoV-2 Omicron subvariants BA.2.12.1, BA.4 and BA.5. Nature, 608(7923), 603–608. https://doi.org/10.1038/s41586-022-05053-w

Kreienkamp, H.-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J.-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M., & Lessel, D. (2021). Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257–272. https://doi.org/10.1007/s00439-021-02412-x

Mullangi, S., & Vasan, N. (2022). Genomic Characterization of De Novo Metastatic Breast Cancer. Clinical Breast Cancer, 22(2), 98–102. https://doi.org/10.1016/j.clbc.2021.11.005

Nagy, D., Verheyen, S., Wigby, K. M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F. A., Chung, W. K., Schieving, J. H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., … Weis, D. (2022). Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes, 13(1), 154. https://doi.org/10.3390/genes13010154

Lieu, Y. K., Liu, Z., Ali, A. M., Wei, X., Penson, A., Zhang, J., An, X., Rabadan, R., Raza, A., Manley, J. L., & Mukherjee, S. (2021). SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes. Proceedings of the National Academy of Sciences, 119(1). https://doi.org/10.1073/pnas.2111703119

Farooqi, N., Metherell, L. A., Schrauwen, I., Acharya, A., Khan, Q., Nouel Saied, L. M., Ali, Y., El-Serehy, H. A., Jalil, F., & Leal, S. M. (2021). Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. Genes, 12(12), 1915. https://doi.org/10.3390/genes12121915

Karim, S. S. A., & Karim, Q. A. (2021). Omicron SARS-CoV-2 variant: a new chapter in the COVID-19 pandemic. The Lancet, 398(10317), 2126–2128. https://doi.org/10.1016/s0140-6736(21)02758-6