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Publications

Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Kentistou KA, Kaisinger LR, Stankovic S, et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature genetics. 2024. doi:10.1038/s41588-024-01798-4

Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Kentistou KA, Kaisinger LR, Stankovic S, et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature genetics. 2024. doi:10.1038/s41588-024-01798-4

Trial Designs A44002PZS Electronic Physician Notification to Facilitate the Recognition and Management of Severe Aortic Stenosis: Rationale, design, and methods of the randomized controlled DETECT AS Trial.

Abou-Karam R, Tanguturi V, Cheng F, Elmariah S. Trial Designs A44002PZS Electronic Physician Notification to Facilitate the Recognition and Management of Severe Aortic Stenosis: Rationale, design, and methods of the randomized controlled DETECT AS Trial. American heart journal. 2024. doi:10.1016/j.ahj.2024.06.009

Somatic structural variants drive distinct modes of oncogenesis in melanoma.

Conway JR, Gillani R, Crowdis J, et al. Somatic structural variants drive distinct modes of oncogenesis in melanoma. The Journal of clinical investigation. 2024;134(13). doi:10.1172/JCI177270

Intrapatient variation in PD-L1 expression and tumor mutational burden and the impact on outcomes to immune checkpoint inhibitor therapy in patients with non-small cell lung cancer.

Di Federico A, Alden SL, Smithy JW, et al. Intrapatient variation in PD-L1 expression and tumor mutational burden and the impact on outcomes to immune checkpoint inhibitor therapy in patients with non-small cell lung cancer. Annals of oncology : official journal of the European Society for Medical Oncology. 2024. doi:10.1016/j.annonc.2024.06.014

The ENCODE mouse postnatal developmental time course identifies regulatory programs of cell types and cell states.

Rebboah E, Rezaie N, Williams BA, et al. The ENCODE mouse postnatal developmental time course identifies regulatory programs of cell types and cell states. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.598567

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Gudmundsson S, Singer-Berk M, Stenton SL, et al. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.593113

Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility.

Rogers JM, Mimoso CA, Martin BJ, et al. Notch induces transcription by stimulating release of paused RNA Pol II without increasing chromatin accessibility. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.13.598853

Somatic structural variants drive distinct modes of oncogenesis in melanoma.

Conway JR, Gillani R, Crowdis J, et al. Somatic structural variants drive distinct modes of oncogenesis in melanoma. The Journal of clinical investigation. 2024;134(13). doi:10.1172/JCI177270

Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.

Winter PS, Ramseier ML, Navia AW, et al. Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.06.597767