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Publications

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

Negi S, Stenton SL, Berger SI, et al. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.01.002

Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.

Boncimino F, D’Auria L, Todorova K, et al. Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome. Cell death discovery. 2025;11(1):24. doi:10.1038/s41420-025-02307-0

Multiple System Atrophy: Pathology, Pathogenesis, and Path Forward.

Ndayisaba A, Halliday GM, Khurana V. Multiple System Atrophy: Pathology, Pathogenesis, and Path Forward. Annual review of pathology. 2025;20(1):245-273. doi:10.1146/annurev-pathmechdis-051122-104528

Multiple System Atrophy: Pathology, Pathogenesis, and Path Forward.

Ndayisaba A, Halliday GM, Khurana V. Multiple System Atrophy: Pathology, Pathogenesis, and Path Forward. Annual review of pathology. 2025;20(1):245-273. doi:10.1146/annurev-pathmechdis-051122-104528

Molecular basis for shifted receptor recognition by an encephalitic arbovirus.

Fan X, Li W, Oros J, et al. Molecular basis for shifted receptor recognition by an encephalitic arbovirus. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.01.631009

Molecular basis for shifted receptor recognition by an encephalitic arbovirus.

Fan X, Li W, Oros J, et al. Molecular basis for shifted receptor recognition by an encephalitic arbovirus. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.01.631009

Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course.

Urbut SM, Cho SMJ, Paruchuri K, et al. Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course. Circulation. Genomic and precision medicine. 2025:e004681. doi:10.1161/CIRCGEN.124.004681

Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course.

Urbut SM, Cho SMJ, Paruchuri K, et al. Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course. Circulation. Genomic and precision medicine. 2025:e004681. doi:10.1161/CIRCGEN.124.004681

An alternatively translated isoform of PPARG proposes AF-1 domain inhibition as an insulin sensitization target.

Du X, Mendez-Lara K, Hu S, et al. An alternatively translated isoform of PPARG proposes AF-1 domain inhibition as an insulin sensitization target. Diabetes. 2025. doi:10.2337/db24-0497

An alternatively translated isoform of PPARG proposes AF-1 domain inhibition as an insulin sensitization target.

Du X, Mendez-Lara K, Hu S, et al. An alternatively translated isoform of PPARG proposes AF-1 domain inhibition as an insulin sensitization target. Diabetes. 2025. doi:10.2337/db24-0497