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Publications

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

Broeren EC, Gitau VN, Byrne AB, et al. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships. Genetics in medicine open. 2025;3:103429. doi:10.1016/j.gimo.2025.103429

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.

Wilcox EH, Webb RF, Tshering KC, et al. Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels. Genetics in medicine open. 2025;3:103430. doi:10.1016/j.gimo.2025.103430

Redirecting Intermediary Metabolism to Counteract Cyanide Poisoning.

Bebarta VS, Nath AK. Redirecting Intermediary Metabolism to Counteract Cyanide Poisoning. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2025;39(12):e70709. doi:10.1096/fj.202400230RR

Correlates and consequences of clonal hematopoiesis expansion rate: a 16-year longitudinal study of 6976 women.

Pershad Y, Uddin MM, Xue L, et al. Correlates and consequences of clonal hematopoiesis expansion rate: a 16-year longitudinal study of 6976 women. Blood. 2025;146(9):1078-1087. doi:10.1182/blood.2025028417

Association of Leucocyte Telomere Length With Stroke, Dementia, and Late-Life Depression: The Role of Modifiable Risk Factors.

Kimball TN, Prapiadou S, Tack RWP, et al. Association of Leucocyte Telomere Length With Stroke, Dementia, and Late-Life Depression: The Role of Modifiable Risk Factors. Neurology. 2025;105(1):e213794. doi:10.1212/WNL.0000000000213794

Cell states and neighborhoods in distinct clinical stages of primary and metastatic esophageal adenocarcinoma.

Yates J, Mathey-Andrews C, Park J, et al. Cell states and neighborhoods in distinct clinical stages of primary and metastatic esophageal adenocarcinoma. Cell reports. Medicine. 2025;6(6):102188. doi:10.1016/j.xcrm.2025.102188

Brain implantation of soft bioelectronics via embryonic development.

Sheng H, Liu R, Li Q, et al. Brain implantation of soft bioelectronics via embryonic development. Nature. 2025;642(8069):954-964. doi:10.1038/s41586-025-09106-8

Bacterial peptide deformylase inhibitors induce prophages in competitors.

Chen J, Pfeifer K, Steensen K, et al. Bacterial peptide deformylase inhibitors induce prophages in competitors. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.06.06.656871

Neural Spectral Prediction for Structure Elucidation with Tandem Mass Spectrometry.

Wang R, Manjrekar M, Mahjour B, et al. Neural Spectral Prediction for Structure Elucidation with Tandem Mass Spectrometry. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.05.28.656653

Diverse modes of T cell receptor sequence convergence define unique functional and cellular phenotypes.

Schattgen S, Vegesana K, Hazelton WD, et al. Diverse modes of T cell receptor sequence convergence define unique functional and cellular phenotypes. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.05.31.657155