Jay R. Thiagarajah

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

Development of the Early Childhood Duodenum across Ancestry, Geography and Environment

The paper creates a cellular and spatial map of the duodenum in children, revealing environmental and developmental influences on intestinal cell states.

A niche-dependent redox rheostat regulates epithelial stem cell fate in the distal colon

This study shows that redox balance, regulated by NOX1 and HIF1-IDH1 interactions, controls epithelial stem cell fate in the distal colon niche.

Trans-kingdom coupling of redox signaling to environmental cell stress responses through multiphase partitioning.

This paper identifies RACK1 as a redox-regulated hub that coordinates cellular stress responses through condensate-based microdomains, linking environmental stress to immune signaling and translational control.

Mesenchymal WNT2B is Required for the Development and Function of the Human Intestine

This study identifies mesenchymal WNT2B as critical for human intestinal epithelial development and function using patient-derived organoids and transcriptomic analysis.

SPECTRE-Plex: an automated, fast, high-resolution-enabled approach for multiplexed cyclic imaging and tissue spatial analysis

SPECTRE-Plex improves speed, automation, and resolution for cyclic multiplex immunofluorescence imaging to better map tissue spatial organization.

TTC7A organizes glandular lumen formation in the intestine through a Class II phosphatidylinositol 3-kinase

This study identifies TTC7A's role in intestinal lumen formation by chaperoning PIK3C2A to generate PI(3,4)P2, with loss-of-function variants causing multiple lumens and rescue possible via exogenous PI(3,4)P2.

Advancing precision care in pregnancy through an actionable fetal findings list

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans

This study shows WNT2B deficiency in mice increases colitis susceptibility and impairs human intestinal development, with distinct effects in small intestine and colon.