Publications

Principled measures and estimates of trait polygenicity.

O’Connor LJ, Sella G. Principled measures and estimates of trait polygenicity. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.07.10.664154

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

Lee E, Kim W, Beier DH, et al. Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.07.15.664798

Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells.

Lyu P, Agarwal G, Guo CJ, et al. Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.07.16.664824

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

Engchuan W, Shanta O, Kumar K, et al. Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.07.11.25331381

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C, Grenier JC, Pelletier J, et al. Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.07.11.25331388

A long-lasting prolactin stimulates galactopoiesis in mice.

Kready K, Doiron KE, Chan KR, et al. A long-lasting prolactin stimulates galactopoiesis in mice. iScience. 2025;28(8):113112. doi:10.1016/j.isci.2025.113112

Selectivity Profiling of Bromodomain PROTACs Using Chemical Inducers of Proximity DNA-Encoded Library Screening.

Chow YT, Tong B, Tan ZY, et al. Selectivity Profiling of Bromodomain PROTACs Using Chemical Inducers of Proximity DNA-Encoded Library Screening. ACS chemical biology. 2025;20(9):2266-2276. doi:10.1021/acschembio.5c00413

Targeted loss of heterozygosity in Candida albicans using CRISPR-Cas9 reveals the functional impact of allelic variation.

Després PC, Gervais NC, Fogal M, Rogers RKJ, Cuomo CA, Shapiro RS. Targeted loss of heterozygosity in Candida albicans using CRISPR-Cas9 reveals the functional impact of allelic variation. Genetics. 2025. doi:10.1093/genetics/iyaf154

The PKU Patient Registry: Development of a patient-driven registry and initial outcomes.

Youngborg L, Brown CS, Blakely EM, et al. The PKU Patient Registry: Development of a patient-driven registry and initial outcomes. Molecular genetics and metabolism. 2025;146(1-2):109199. doi:10.1016/j.ymgme.2025.109199

Compartment-Specific Metabolic Alterations to Insulin Reflect Adiposity-Driven Variation and Predict Type 2 Diabetes.

Sevilla-González M, Hanson PA, Islam J, et al. Compartment-Specific Metabolic Alterations to Insulin Reflect Adiposity-Driven Variation and Predict Type 2 Diabetes. The Journal of clinical endocrinology and metabolism. 2025. doi:10.1210/clinem/dgaf454

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Publications

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