M. Arfan Ikram

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

This study identifies genetic variants influencing miRNA expression and links them to disease associations using genome-wide association studies and Mendelian randomization.

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

The paper develops interpretable neural networks for multi-omics data to predict smoking status, age, and LDL levels, showing improved performance and generalizability across cohorts.

This study identifies genetic variants associated with income and shows they correlate with health outcomes and educational attainment.

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.

This study investigates the long-term effects of parity on maternal brain structure using a large cohort, finding a significant association with increased global gray matter volume.

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

This study investigates the neural correlates of orbital telorism in the general population, finding associations with grey matter density and cognitive functions.

This study identifies DNA methylation sites associated with coffee and tea consumption using EWAS, finding potential links to fatty liver disease through PHGDH expression.

The paper identifies novel genetic loci associated with blood pressure that interact with sleep duration across multiple ancestries.

The paper compares two models for correcting cell type composition in blood gene expression data, finding that accounting for more cell types reduces the number of age-associated genes and highlights platelet-related pathways.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

The paper identifies 818 genes influencing DNA methylation in blood using genetic anchors and causal inference, revealing both transcription factors and non-DNA-binding proteins with regulatory roles.

GenNet predicts phenotypes from genetic variants using interpretable deep learning, identifying genes and pathways associated with traits like hair color and schizophrenia.

This study identifies genetic loci associated with macronutrient intake and links them to health outcomes using GWAS in over 235,000 individuals.

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

The paper maps cognitive performance to brain structure using voxel-based morphometry and subcortical shape analysis in a large population sample.

This study identifies genetic loci specific to periventricular and deep white matter hyperintensities, revealing distinct genetic architectures and potential biological mechanisms.

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.