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Publications

Toward trustable use of machine learning models of variant effects in the clinic.

Dias M, Orenbuch R, Marks DS, Frazer J. Toward trustable use of machine learning models of variant effects in the clinic. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.10.011

Toward trustable use of machine learning models of variant effects in the clinic.

Dias M, Orenbuch R, Marks DS, Frazer J. Toward trustable use of machine learning models of variant effects in the clinic. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.10.011

MODY Calculator and Clinical Features Routinely Used to Distinguish MODY From Type 2 Diabetes in Adults Perform Poorly for Youth Clinically Diagnosed With Type 2 Diabetes.

Kreienkamp RJ, Shields BM, Pollin TI, et al. MODY Calculator and Clinical Features Routinely Used to Distinguish MODY From Type 2 Diabetes in Adults Perform Poorly for Youth Clinically Diagnosed With Type 2 Diabetes. Diabetes care. 2024. doi:10.2337/dc24-1565

In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice.

Du SW, Newby GA, Salom D, et al. In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice. Proceedings of the National Academy of Sciences of the United States of America. 2024;121(48):e2416827121. doi:10.1073/pnas.2416827121

Long-Term Autoimmune Inflammatory Rheumatic Outcomes of COVID-19.

Kim MS, Lee H, Yon DK. Long-Term Autoimmune Inflammatory Rheumatic Outcomes of COVID-19. Annals of internal medicine. 2024;177(11):1599-1600. doi:10.7326/ANNALS-24-01954

Coffee consumption is associated with intestinal Lawsonibacter asaccharolyticus abundance and prevalence across multiple cohorts.

Manghi P, Bhosle A, Wang K, et al. Coffee consumption is associated with intestinal Lawsonibacter asaccharolyticus abundance and prevalence across multiple cohorts. Nature microbiology. 2024. doi:10.1038/s41564-024-01858-9

Associations between dietary fibers and gut microbiome composition in the EDIA longitudinal infant cohort.

Lalli MK, Salo TEI, Hakola L, Knip M, Virtanen SM, Vatanen T. Associations between dietary fibers and gut microbiome composition in the EDIA longitudinal infant cohort. The American journal of clinical nutrition. 2024. doi:10.1016/j.ajcnut.2024.11.011

Disease associations of natural killer (NK) cell KIR gene content variation in 352,783 Finns.

Ritari J, Koskela S, Hyvärinen K, , Ollila H, Partanen J. Disease associations of natural killer (NK) cell KIR gene content variation in 352,783 Finns. Human immunology. 2024;85(6):111177. doi:10.1016/j.humimm.2024.111177

B cells spatial organization defines their phenotype and function in cancer "Tell me with whom you consort, and I will tell you who you are" - Goethe.

Bod L, Shalapour S. B cells spatial organization defines their phenotype and function in cancer "Tell me with whom you consort, and I will tell you who you are" - Goethe. Current opinion in immunology. 2024;91:102504. doi:10.1016/j.coi.2024.102504

Chemical tools to expand the ligandable proteome: Diversity-oriented synthesis-based photoreactive stereoprobes.

Ogasawara D, Konrad DB, Tan ZY, et al. Chemical tools to expand the ligandable proteome: Diversity-oriented synthesis-based photoreactive stereoprobes. Cell chemical biology. 2024. doi:10.1016/j.chembiol.2024.10.005