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Publications

"Floppy brain" in congenital hydrocephalus.

Duy PQ, Kahle KT. "Floppy brain" in congenital hydrocephalus. Cerebral cortex (New York, N.Y. : 1991). 2023. doi:10.1093/cercor/bhad206

Chromatin alternates between A and B compartments at kilobase scale for subgenic organization.

Harris HL, Gu H, Olshansky M, et al. Chromatin alternates between A and B compartments at kilobase scale for subgenic organization. Nature communications. 2023;14(1):3303. doi:10.1038/s41467-023-38429-1

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.

Green RC, Shah N, Genetti CA, et al. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.05.007

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.

Wang X, Khurshid S, Choi SH, et al. Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms. Circulation. Genomic and precision medicine. 2023:e003808. doi:10.1161/CIRCGEN.122.003808

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Johansson J, Lidéus S, Frykholm C, et al. Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. European journal of human genetics : EJHG. 2023. doi:10.1038/s41431-023-01392-y

Distributed-Something: scripts to leverage AWS storage and computing for distributed workflows at scale.

Weisbart E, Cimini BA. Distributed-Something: scripts to leverage AWS storage and computing for distributed workflows at scale. Nature methods. 2023. doi:10.1038/s41592-023-01918-8

Multimodal learning on graphs for disease relation extraction.

Lin Y, Lu K, Yu S, Cai T, Zitnik M. Multimodal learning on graphs for disease relation extraction. Journal of biomedical informatics. 2023:104415. doi:10.1016/j.jbi.2023.104415

Convergent mechanisms of microglia-mediated synaptic dysfunction contribute to diverse neuropathological conditions.

Scott-Hewitt N, Huang Y, Stevens B. Convergent mechanisms of microglia-mediated synaptic dysfunction contribute to diverse neuropathological conditions. Annals of the New York Academy of Sciences. 2023. doi:10.1111/nyas.15010

The Transposon-Encoded Protein TnpB Processes Its Own mRNA into ωRNA for Guided Nuclease Activity.

Nety SP, Altae-Tran H, Kannan S, et al. The Transposon-Encoded Protein TnpB Processes Its Own mRNA into ωRNA for Guided Nuclease Activity. The CRISPR journal. 2023;6(3):232-242. doi:10.1089/crispr.2023.0015

Molecular mechanism of synovial joint site specification and induction in developing vertebrate limbs.

Yadav US, Biswas T, Singh PN, et al. Molecular mechanism of synovial joint site specification and induction in developing vertebrate limbs. Development (Cambridge, England). 2023. doi:10.1242/dev.201335