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Publications

Achieving Procedural Parity in Managing Access to Genomic and Related Health Data: A Global Survey of Data Access Committee Members.

Lawson J, Rahimzadeh V, Baek J, Dove ES. Achieving Procedural Parity in Managing Access to Genomic and Related Health Data: A Global Survey of Data Access Committee Members. Biopreservation and biobanking. 2023. doi:10.1089/bio.2022.0205

Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research.

Ahalt S, Avillach P, Boyles R, et al. Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research. Journal of the American Medical Informatics Association : JAMIA. 2023. doi:10.1093/jamia/ocad048

A pesticide and iPSC dopaminergic neuron screen identifies and classifies Parkinson-relevant pesticides.

Paul KC, Krolewski RC, Moreno EL, et al. A pesticide and iPSC dopaminergic neuron screen identifies and classifies Parkinson-relevant pesticides. Nature communications. 2023;14(1):2803. doi:10.1038/s41467-023-38215-z

The Role of Mobile Genetic Elements in Virulence Factor Carriage from Symptomatic and Asymptomatic Cases of Escherichia coli Bacteriuria.

Morales G, Abelson B, Reasoner S, et al. The Role of Mobile Genetic Elements in Virulence Factor Carriage from Symptomatic and Asymptomatic Cases of Escherichia coli Bacteriuria. Microbiology spectrum. 2023:e0471022. doi:10.1128/spectrum.04710-22

Methods and Insights from Single-Cell Expression Quantitative Trait Loci.

Kang JB, Raveane A, Nathan A, Soranzo N, Raychaudhuri S. Methods and Insights from Single-Cell Expression Quantitative Trait Loci. Annual review of genomics and human genetics. 2023. doi:10.1146/annurev-genom-101422-100437

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Rots D, Jakub TE, Keung C, et al. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.04.008

Emerging roles and opportunities for rare disease patient advocacy groups.

Patterson AM, O’Boyle M, VanNoy GE, Dies KA. Emerging roles and opportunities for rare disease patient advocacy groups. Therapeutic advances in rare disease. 2023;4:26330040231164425. doi:10.1177/26330040231164425

Regulatory T cells in peripheral tissue tolerance and diseases.

Cheru N, Hafler DA, Sumida TS. Regulatory T cells in peripheral tissue tolerance and diseases. Frontiers in immunology. 2023;14:1154575. doi:10.3389/fimmu.2023.1154575

Clonal Hematopoiesis of Indeterminate Potential Predicts Adverse Outcomes in Patients With Atherosclerotic Cardiovascular Disease.

Gumuser ED, Schuermans A, Cho SMJ, et al. Clonal Hematopoiesis of Indeterminate Potential Predicts Adverse Outcomes in Patients With Atherosclerotic Cardiovascular Disease. Journal of the American College of Cardiology. 2023;81(20):1996-2009. doi:10.1016/j.jacc.2023.03.401

Salvage of ribose from uridine or RNA supports glycolysis in nutrient-limited conditions.

Skinner OS, Blanco-Fernández J, Goodman RP, et al. Salvage of ribose from uridine or RNA supports glycolysis in nutrient-limited conditions. Nature metabolism. 2023. doi:10.1038/s42255-023-00774-2