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Publications

Reliability and Validity of Self-Reported Risk Factors for Stroke and Dementia.

Tack RWP, Senff JR, Kimball TN, et al. Reliability and Validity of Self-Reported Risk Factors for Stroke and Dementia. Journal of the American Heart Association. 2025:e038730. doi:10.1161/JAHA.124.038730

Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure.

Latorre-Crespo E, Robertson NA, Kosebent G, et al. Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.28.640879

A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.

Manian K V, Ludwig CH, Zhao Y, et al. A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.27.640335

JUNIPER: Reconstructing Transmission Events from Next-Generation Sequencing Data at Scale.

Specht I, Moreno GK, Brock-Fisher T, et al. JUNIPER: Reconstructing Transmission Events from Next-Generation Sequencing Data at Scale. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.02.25323192

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Rekerle L, Danis D, Rehburg F, et al. GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.05.25323315

SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders.

Jang B, Bp K, Tokolyi A, et al. SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.03.06.25323424

Association Between Sleep Duration and Cognitive Frailty in Older Chinese Adults: Prospective Cohort Study.

Cai R, Chao J, Gao C, Gao L, Hu K, Li P. Association Between Sleep Duration and Cognitive Frailty in Older Chinese Adults: Prospective Cohort Study. JMIR aging. 2025. doi:10.2196/65183

Asian diversity in human immune cells.

Kock KH, Tan LM, Han KY, et al. Asian diversity in human immune cells. Cell. 2025. doi:10.1016/j.cell.2025.02.017

Recurrent breakpoints in the BRD4 locus reduce toxicity associated with gene amplification.

Wala J, Dalin S, Webster S, et al. Recurrent breakpoints in the BRD4 locus reduce toxicity associated with gene amplification. Cell genomics. 2025:100815. doi:10.1016/j.xgen.2025.100815

DNA hypermethylation of MED1 and MED23 as early diagnostic biomarkers for unsolved issues in atrial fibrillation.

Schiano C, Infante T, Benincasa G, et al. DNA hypermethylation of MED1 and MED23 as early diagnostic biomarkers for unsolved issues in atrial fibrillation. International journal of cardiology. 2025:133179. doi:10.1016/j.ijcard.2025.133179