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Publications

The PRIMED Consortium: Reducing disparities in polygenic risk assessment.

Kullo IJ, Conomos MP, Nelson SC, et al. The PRIMED Consortium: Reducing disparities in polygenic risk assessment. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.10.010

WONOEP appraisal: Targeted therapy development for early onset epilepsies.

Casillas-Espinosa PM, Wong JC, Grabon W, et al. WONOEP appraisal: Targeted therapy development for early onset epilepsies. Epilepsia. 2024. doi:10.1111/epi.18187

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

Mass Spectrometry-based Profiling of Single-cell Histone Post-translational Modifications to Dissect Chromatin Heterogeneity.

Cutler R, Corveleyn L, Ctortecka C, et al. Mass Spectrometry-based Profiling of Single-cell Histone Post-translational Modifications to Dissect Chromatin Heterogeneity. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.07.05.602213

A case study to engage students in evolutionary thinking around antibiotic resistance using the MEGA-plate experiment.

Carr SA, Mathews SL, Pruneski JA, Stasulli NM. A case study to engage students in evolutionary thinking around antibiotic resistance using the MEGA-plate experiment. Journal of microbiology & biology education. 2024:e0003924. doi:10.1128/jmbe.00039-24

Directed evolution of the multicopper oxidase laccase for cell surface proximity labeling and electron microscopy.

Lee SY, Roh H, Gonzalez-Perez D, et al. Directed evolution of the multicopper oxidase laccase for cell surface proximity labeling and electron microscopy. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.10.29.620861

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