Publications

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC, Jin SC, Bilguvar K, et al. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings of the National Academy of Sciences of the United States of America. 2025;122(13):e2420343122. doi:10.1073/pnas.2420343122

Plasma metabolites associated with endometriosis in adolescents and young adults.

Lin N, Zeleznik OA, Vitonis AF, et al. Plasma metabolites associated with endometriosis in adolescents and young adults. Human reproduction (Oxford, England). 2025;40(5):843-854. doi:10.1093/humrep/deaf040

Mitochondrial NNT Promotes Diastolic Dysfunction in Cardiometabolic HFpEF.

Pepin ME, Konrad PJM, Nazir S, et al. Mitochondrial NNT Promotes Diastolic Dysfunction in Cardiometabolic HFpEF. Circulation research. 2025;136(12):1564-1578. doi:10.1161/CIRCRESAHA.125.326154

Polarized Communication Climates, Epistemic Misalignment, and Uncertain Futures: The Challenge of Generating Trustworthy, Evidence-Based Analysis in Bioethical Discourse on War as a Public Health Crisis.

Goldfarb LJ, Asher R. Polarized Communication Climates, Epistemic Misalignment, and Uncertain Futures: The Challenge of Generating Trustworthy, Evidence-Based Analysis in Bioethical Discourse on War as a Public Health Crisis. The American journal of bioethics : AJOB. 2025;25(5):141-144. doi:10.1080/15265161.2025.2489617

Sociodemographic influences on substance use in psychosis in an African cohort.

Campbell ML, Odokonyero R, Akena D, et al. Sociodemographic influences on substance use in psychosis in an African cohort. Schizophrenia research. 2025;281:157-163. doi:10.1016/j.schres.2025.04.012

Cell-surface proteomic profiling identifies CD72 as a regulator of microglial tiling.

Chan TC, Rastogi M, Williams MX, et al. Cell-surface proteomic profiling identifies CD72 as a regulator of microglial tiling. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.06.02.657480

Genome-wide rules of transcription factor cooperativity revealed through binding site ablation.

He X, Einarsson H, Páleníková P, et al. Genome-wide rules of transcription factor cooperativity revealed through binding site ablation. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.06.19.660093

Ontology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy.

Golnari P, Prantzalos K, Hood V, et al. Ontology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy. International journal of medical informatics. 2025;201:105942. doi:10.1016/j.ijmedinf.2025.105942

Contaminated drinking water facilitates Escherichia coli strain-sharing within households in urban informal settlements.

Kim DD, Swarthout JM, Worby CJ, et al. Contaminated drinking water facilitates Escherichia coli strain-sharing within households in urban informal settlements. Nature microbiology. 2025;10(5):1198-1209. doi:10.1038/s41564-025-01986-w

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina.

Sampson J, Segrè A V, Bujakowska KM, et al. Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.04.25.25326445