Author

C. Hayward

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Open access Sep 2026

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

This case series examines the anatomical and functional phenotype of a variant in EFEMP1, p.Arg140Trp, and its associations with retinal degeneration.

Chloe M. Stanton, G. Ansari, Kristina Pfau et al. · JAMA ophthalmology · 0 citations

Open access Jul 2026

Cross-definition GWAS of IBS in 2.8 million individuals reveals cardiometabolic and triglyceride-linked mechanisms

This study provides the most comprehensive assessment of IBS genetics to date, demonstrating reproducible polygenic inheritance and linking IBS risk to convergent neurogastrointestinal and novel cardiometabolic mechanisms, highlight specific biological pathways and actionable mechanisms and outline translational opport...

Biagio Di Lorenzo, L. Camargo Tavares, Cristian Díaz-Muñoz et al. · Gut · 0 citations