Kāri Stefánsson

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

This study analyzes ancient DNA from three European sites to assess the genomic impact of the second plague pandemic, finding no strong positive selection but evidence of reduced long-range immigration post-pandemic.

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

This study evaluates polygenic risk scores (PRS) for colorectal cancer (CRC) screening, showing they stratify risk independently of ancestry and sex but offer limited additional predictive value when combined with FIT.

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

This study identifies 58 genomic regions associated with meiotic recombination, 24 of which are sex-specific, and finds a moderate genetic correlation between male and female recombination rates.

The paper uses population-scale Ig genetics to identify genetic associations and map their effects on the human B-cell system, revealing new genes and regulatory mechanisms in humoral immunity.

BloodVariome identifies 259 genetic associations across 127 immune cell populations in 11,983 individuals, revealing fine-grained genetic compartmentalization of the immune system.

This study shows endometriosis lesions originate from the normal endometrium through clonal expansion, with distinct clones at different body sites.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

This paper predicts drug response in epilepsy using multi-task gradient-boosted trees, identifying key genomic and clinical features that influence treatment outcomes.

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

The paper uses genetic data from Denmark and Britain to infer historical North Sea migrations from the Middle Ages to the Industrial Revolution, identifying distinct population patterns and migration trends.

The paper identifies five genomic factors explaining most genetic variance across 14 psychiatric disorders and finds shared and disorder-specific genetic signals with distinct biological functions.

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

This study performs a multi-ancestral GWAS of DSM-defined nicotine dependence, finding genetic correlations with other substance use disorders and health traits, and identifying a strong general addiction liability factor.

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

This study identifies two novel genomic loci associated with antidepressant non-response and suggests potential drugs for further validation.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

This paper identifies shared genetic risk loci between ADHD, cannabis use disorder, and cannabis use, and predicts cannabis use disorder risk in ADHD using polygenic scores.

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

The paper identifies five genetic loci associated with postpartum hemorrhage through a meta-analysis and links them to progesterone receptor binding sites and related traits.

This study identifies 64 new risk loci for major depression, refines its genetic architecture, and shows strong genetic overlap with other psychiatric disorders and educational attainment.

This study examines genetic liability for psychiatric disorders using disorder-specific and transdiagnostic frameworks, finding that depression PRS is associated with multiple disorders and uncovering four functional domains aligning with RDoC.

The paper introduces a deep learning framework for polygenic risk score prediction, showing improved performance over traditional methods for various diseases.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.