Paul Nioi

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

The paper identifies rare variants in CFHR5 associated with reduced risk of AMD and increased retinal thickness, suggesting CFHR5 as a therapeutic target.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

Association of the Transthyretin Variant V122I With Polyneuropathy Among Individuals of African Descent

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.

Gene-level analysis of rare variants in 363,977 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

The paper identifies GIGYF1 loss of function variants as associated with increased risk of type 2 diabetes and higher glucose/HbA1c levels in a large exome sequencing study.

Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank

The paper investigates the association between the TTR T119M mutation and vascular disease or death in the UK Biobank, finding no significant protective effect.

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.

Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects

The paper shows that genetic evidence linking drug targets to organ system phenotypes predicts clinical trial side effects in those systems.