Patrick Sulem

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 identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

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.

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 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 analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.

PopDel identifies medium-size deletions in tens of thousands of genomes with high accuracy and scalability.

The paper reanalyzes UK Biobank data and two population samples to show CCR5-del32 homozygosity is not associated with increased mortality or disease risk.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

This study introduces RDR, a method to estimate heritability while removing environmental bias, and applies it to 54,888 Icelanders to estimate heritability for 14 traits.

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

The paper identifies a rare missense mutation in MYH6 associated with increased risk of coarctation of the aorta and other cardiac conditions.

This study identifies mutations in RPL3L and MYZAP as risk factors for atrial fibrillation through genome-wide association analysis and functional validation.