The paper identifies the transaminase-omega-amidase pathway as a redox-sensitive metabolic switch in endothelial glutamine metabolism, showing that NIT2 oxidation inhibits its activity and affects angiogenesis.

The EMBO Journal · Dec 17, 2025Peer-reviewedPhysiology

A flexible pipeline for reproducible exome-wide rare variant gene-trait associations

Kevin Y. H. Liang, Ethan Kreuzer, Yann Ilboudo, Yiheng Chen, John Brent Richards, Guillaume Butler‐Laporte

The paper introduces a customizable pipeline for exome-wide rare variant gene-trait associations, demonstrating its utility by replicating three studies and providing a standardized framework for similar analyses.

medRxiv · Jun 26, 2025 · PreprintGenetic & Genomic Medicine

Caution when using network partners for target identification in drug discovery

Dandan Tan, Yiheng Chen, Yann Ilboudo, Kevin Y. H. Liang, Guillaume Butler‐Laporte, John Brent Richards

The paper tests using protein network partners to identify drug targets, finding that while sensitivity improves, precision is low, limiting practical application.

Human Genetics and Genomics Advances · Jan 23, 2025Peer-reviewedPharmacology & Toxicology

The performance of AlphaMissense to identify genes causing disease

Yiheng Chen, Guillaume Butler‐Laporte, Kevin Y. H. Liang, Yann Ilboudo, Summaira Yasmeen, Takayoshi Sasako, Claudia Langenberg, Celia M.T. Greenwood, John Brent Richards

This study evaluates AlphaMissense's impact on gene-based testing for disease causation using UK Biobank exome data, finding no significant improvement in identifying disease-causing genes.

medRxiv · Mar 5, 2024 · PreprintGenetic & Genomic Medicine

Proteome-wide Mendelian randomization implicates nephronectin as an actionable mediator of the effect of obesity on COVID-19 severity

Satoshi Yoshiji, Guillaume Butler‐Laporte, Tianyuan Lu, Julian Willett, Chen‐Yang Su, Tomoko Nakanishi, David Morrison, Yiheng Chen, Kevin Y. H. Liang, Michael Hultström, Yann Ilboudo, Zaman Afrasiabi, Shanshan Lan, Naomi Duggan, Chantal DeLuca, , John Brent Richards

The paper identifies nephronectin as a mediator of obesity's effect on COVID-19 severity using proteome-wide Mendelian randomization and validates its expression in lung cells.

Nature Metabolism · Feb 20, 2023Peer-reviewedGenetic & Genomic Medicine

HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank

Guillaume Butler‐Laporte, Yossi Farjoun, Tomoko Nakanishi, Tianyuan Lu, Erik Abner, Yiheng Chen, Michael Hultström, Andres Metspalu, Lili A. Milani, Reedik Mägi, Mari Nelis, Georgi Hudjashov, Satoshi Yoshiji, Yann Ilboudo, Kevin Y. H. Liang, , John Brent Richards

This study uses whole-exome sequencing to directly call HLA alleles in the UK Biobank, identifying 129 novel associations between HLA alleles and 11 autoimmune diseases.

medRxiv · Jan 15, 2023 · PreprintGenetic & Genomic Medicine

A Neanderthal OAS1 Isoform Protects Against COVID-19 Susceptibility and Severity: Results from Mendelian Randomization and Case-Control Studies

Sirui Zhou, Guillaume Butler‐Laporte, Tomoko Nakanishi, David Morrison, Jonathan Afilalo, Marc Afilalo, Laetitia Laurent, Maik Pietzner, Nicola D. Kerrison, Kaiqiong Zhao, Elsa Brunet‐Ratnasingham, Danielle Henry, Nofar Kimchi, Zaman Afrasiabi, Nardin Rezk, , John Brent Richards

This study identifies OAS1 as a protective factor against COVID-19 severity and susceptibility using Mendelian randomization and case-control analyses.

Nature Medicine · Feb 25, 2021Peer-reviewedGenetic & Genomic Medicine