Hôpital Saint-Antoine

The mutational constraint spectrum quantified from variation in 141,456 humans

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

Development and Validation of the HScore, a Score for the Diagnosis of Reactive Hemophagocytic Syndrome

Objective Because it has no unique clinical, biologic, or histologic features, reactive hemophagocytic syndrome may be difficult to distinguish from other diseases such as sever...

A structural variation reference for medical and population genetics

Risk of Colorectal High-Grade Dysplasia and Cancer in a Prospective Observational Cohort of Patients With Inflammatory Bowel Disease

Transcript expression-aware annotation improves rare variant interpretation

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

The effect of LRRK2 loss-of-function variants in humans

Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...