Alan R. Shuldiner

This study identifies 86 T2D GWAS associations in 125,000 admixed Mexican adults, including 21 novel signals, and highlights the role of common regulatory variation in the endocrine pancreas.

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

The paper performs metabolomics exome and genome-wide association studies in Amish adults, identifying genetic variants linked to metabolites and cardiometabolic traits.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

The paper identifies two founder BRCA variants in Orkney and Shetland populations, accounting for 93.5% of pathogenic BRCA alleles.

The paper identifies regionally enriched rare deleterious exonic variants in the UK and Ireland using exome sequencing data, highlighting potential implications for genetic screening and counseling.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

This paper presents the largest catalog of human protein-coding variation from 985,830 individuals, identifying rare variants and their functional implications for precision medicine.

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.

The paper uses exome sequencing to identify rare variants in glycosyltransferase genes affecting transferrin and IgG glycosylation, linking them to disease-related traits.

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

This study uses exome sequencing of 628,388 individuals to identify genetic variants associated with clonal hematopoiesis and its health outcomes.

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

This study identifies parent-of-origin specific genetic associations with clinical traits from EHR in a large population study, finding that PoO effects are often captured by standard models but remain underpowered to detect.

The paper identifies recessive NOD2 inheritance as a major driver of early onset Crohn’s Disease in both pediatric and adult cohorts.

The paper performs exome-wide association studies in large cohorts to identify genetic variants linked to human age, finding new candidates and confirming known ones.

This study uses whole exome sequencing in 6,716 American Indians to identify metabolic trait-associated variants, finding unique pLOF and nonsynonymous variants linked to BMI, diabetes, and lipid levels.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

The paper identifies a missense variant in B4GALT1 associated with lower LDL-C and fibrinogen, supported by genetic, functional, and glycan profiling evidence.

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.