Mari Niemi

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

This study updates the genetic architecture of COVID-19 by adding 11 new genome-wide significant loci through a large GWAS meta-analysis.

The paper links reduced reproductive success to selective constraint on human genes, showing that damaging variants are associated with increased childlessness, particularly in males.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

This study examines how a major genetic risk factor for COVID-19 affects mortality and severity, finding stronger effects in younger adults.

This study creates a single-cell and spatial atlas of autopsy tissues from COVID-19 patients, revealing altered cellular responses and potential therapeutic targets.

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

The paper shows that common genetic variants contribute to risk and clinical variation in severe neurodevelopmental disorders, even in individuals with known monogenic diagnoses.