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Publications

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Bennett G, Karbassi I, Chen W, et al. Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.11.13.24317242

Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.

Ma R, Conley SD, Kosicki M, et al. Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.11.20.24317557

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Broeren E, Gitau V, Byrne A, et al. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.11.19.24317561

Single cell variant to enhancer to gene map for coronary artery disease.

Amrute JM, Lee PC, Eres I, et al. Single cell variant to enhancer to gene map for coronary artery disease. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.11.13.24317257

HBV Remodels PP2A Complexes to Rewire Kinase Signaling in Hepatocellular Carcinoma.

Turnham RE, Pitea A, Jang GM, et al. HBV Remodels PP2A Complexes to Rewire Kinase Signaling in Hepatocellular Carcinoma. Cancer research. 2024. doi:10.1158/0008-5472.CAN-24-0456

A potent and selective reaction hijacking inhibitor of Plasmodium falciparum tyrosine tRNA synthetase exhibits single dose oral efficacy in vivo.

Xie SC, Tai CW, Morton CJ, et al. A potent and selective reaction hijacking inhibitor of Plasmodium falciparum tyrosine tRNA synthetase exhibits single dose oral efficacy in vivo. PLoS pathogens. 2024;20(12):e1012429. doi:10.1371/journal.ppat.1012429

Robust self-supervised denoising of voltage imaging data using CellMincer.

Wang B, Ma T, Chen T, et al. Robust self-supervised denoising of voltage imaging data using CellMincer. Npj imaging. 2024;2(1):51. doi:10.1038/s44303-024-00055-x

Beyond the Bubble: A Debate on microRNA Sorting in Extracellular Vesicles.

Liu XM, Halushka MK. Beyond the Bubble: A Debate on microRNA Sorting in Extracellular Vesicles. Laboratory investigation; a journal of technical methods and pathology. 2024:102206. doi:10.1016/j.labinv.2024.102206

Diagnosing recipient- vs. donor-derived posttransplant myelodysplastic neoplasm via targeted single-cell mutational profiling.

Ihlow J, Penter L, Vuong LG, et al. Diagnosing recipient- vs. donor-derived posttransplant myelodysplastic neoplasm via targeted single-cell mutational profiling. Med (New York, N.Y.). 2024. doi:10.1016/j.medj.2024.11.001

Differential behavioral engagement of inhibitory interneuron subtypes in the zebra finch brain.

Hozhabri E, Asensio AC, Elmaleh M, et al. Differential behavioral engagement of inhibitory interneuron subtypes in the zebra finch brain. Neuron. 2024. doi:10.1016/j.neuron.2024.11.003