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Publications

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Webb RF, McCurry H, Girod A, et al. Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2025. doi:10.1093/jbmr/zjaf183

Deep proteogenomic characterization of pancreatic solid pseudopapillary neoplasm reveals unique features distinct from other pancreatic tumors.

Tanaka A, Otani Y, Klimstra DS, et al. Deep proteogenomic characterization of pancreatic solid pseudopapillary neoplasm reveals unique features distinct from other pancreatic tumors. Biomarker research. 2025. doi:10.1186/s40364-025-00875-y

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Zhu R, Liu L, Estiar MA, et al. Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society. 2025. doi:10.1002/mds.70144

The role of circulating metabolomics in linking metabolic dysfunction, inflammation, and risk of diverticulitis outcomes.

Wu Y, Du M, Bever AM, et al. The role of circulating metabolomics in linking metabolic dysfunction, inflammation, and risk of diverticulitis outcomes. EBioMedicine. 2025;122:106038. doi:10.1016/j.ebiom.2025.106038

Stress-induced sympathetic hyperactivation drives hair follicle necrosis to trigger autoimmunity.

Scott-Solomon E, Brielle S, Mann AO, et al. Stress-induced sympathetic hyperactivation drives hair follicle necrosis to trigger autoimmunity. Cell. 2025. doi:10.1016/j.cell.2025.10.042

A triple-action PROTAC for wild-type p53 cancer therapy.

Bird GH, Adhikary U, Schmidt MJ, et al. A triple-action PROTAC for wild-type p53 cancer therapy. Cell reports. Medicine. 2025:102467. doi:10.1016/j.xcrm.2025.102467

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Buerger F, Salmanullah D, Liang L, et al. Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. Nature communications. 2025;16(1):10654. doi:10.1038/s41467-025-65663-6

Human plasma proteomic profile of clonal hematopoiesis.

Yu Z, Vromman A, Nguyen NQH, et al. Human plasma proteomic profile of clonal hematopoiesis. Nature communications. 2025. doi:10.1038/s41467-025-66755-z

Author Correction: Spatial multiomic landscape of the human placenta at molecular resolution.

Ounadjela JR, Zhang K, Kobayashi-Kirschvink KJ, et al. Author Correction: Spatial multiomic landscape of the human placenta at molecular resolution. Nature medicine. 2025. doi:10.1038/s41591-025-04118-3

Harnessing Large Cohorts and AI to Bridge Genomic Discovery and Clinical Practice.

Zhong B, Wang S, Jing X, Patel AP, Zhao Y, Wang M. Harnessing Large Cohorts and AI to Bridge Genomic Discovery and Clinical Practice. Genomics, proteomics & bioinformatics. 2025. doi:10.1093/gpbjnl/qzaf104