Chiara Auwerx

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 24 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues.

Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues.

Journal: American journal of human genetics

Published: July 23, 2025

LiMA: Robust inference of molecular mediation from summary statistics.

LiMA: Robust inference of molecular mediation from summary statistics.

Journal: American journal of human genetics

Published: April 28, 2025

The pleiotropic spectrum of proximal 16p11.2 CNVs.

The pleiotropic spectrum of proximal 16p11.2 CNVs.

Journal: American journal of human genetics

Published: March 28, 2024

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.

Journal: American journal of human genetics

Published: March 28, 2024

Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.

Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.

Journal: Nature communications

Published: March 26, 2024

Breaking down causes, consequences, and mediating effects of telomere length variation on human health.

Breaking down causes, consequences, and mediating effects of telomere length variation on human health.

Journal: Genome biology

Published: November 01, 2023

Rare copy-number variants as modulators of common disease susceptibility.

Rare copy-number variants as modulators of common disease susceptibility.

Journal: Genome medicine

Published: July 17, 2023

Response to Bassett et al.

Response to Bassett et al.

Journal: American journal of human genetics

Published: July 07, 2023

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Journal: NPJ genomic medicine

Published: May 24, 2023

Showing 1-12 of 24

Last Updated: 09/26/2026