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Article

Systematic multi-omic deconvolution of the clinical heterogeneity of Down syndrome.

Nature communications - 11 May 2026

Donovan Micah G, Chillamcherla Srija, Enriquez Estrada Belinda A, Worek Kayleigh R, Sundararajan Zenitha, Barstch Kyle W, Sullivan Kelly D, Galbraith Matthew D, Rachubinski Angela L, Espinosa Joaquin M

Abstract excerpt

Persons with Down syndrome, the genetic condition caused by trisomy 21, are at high risk of developing various co-occurring conditions affecting all major organ systems. Recent multi-omic studies have revealed the profound impacts of trisomy 21 on human biology, including strong effects on the transcriptome, proteome, metabolome, and immunome. However, it is unclear whether these changes are conserved effects of...

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PMID: 42115186
DOI: 10.1038/s41467-026-72946-z
PMCID: PMC13377184

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