Maria Teresa Abreu

Ileitis abolishes tolerogenic functions of the enterohepatic bile acid pool

The paper shows that ileitis disrupts bile acid (BA) pool balance, altering immune regulation by affecting BA receptor interactions and Th17 cell function.

Resolving inflammatory bowel disease risk variants to genes and cell types

This study identifies 619 IBD risk signals, resolves 81 high-confidence variants, and prioritizes 664 candidate effector genes using GWAS, eQTL, and exome sequencing.

An IL-17-DUOX2 axis controls gastrointestinal colonization by Candida albicans

This study identifies an IL-17-DUOX2 axis that regulates C. albicans colonization and filamentation in the gut through interactions with candidalysin toxin.

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

Pretransplant targeting of TNFRSF25 and CD25 stimulates recipient Tregs in target tissues ameliorating GVHD post-HSCT

This paper shows that pretransplant targeting of TNFRSF25 and CD25 with a TL1A-Ig fusion protein and low-dose IL-2 expands recipient Tregs, reducing GVHD after HSCT while preserving GVL.

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

Inferring compound heterozygosity from large-scale exome sequencing data

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.