Joel N. Hirschhorn

Long-Term Impact of Cumulative Hyperglycaemia on DNA Methylation and its Role in Diabetic Kidney Disease

The paper identifies DNA methylation changes linked to cumulative hyperglycaemia in type 1 diabetes and links some to diabetic kidney disease through Mendelian randomization.

Blood methylation biomarkers are associated with diabetic kidney disease progression in type 1 diabetes

The paper identifies DNA methylation biomarkers associated with diabetic kidney disease progression in type 1 diabetes using a prospective cohort study.

Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production

This study identifies WNT2B as a key regulator of adrenal aldosterone production, showing its role in zG function and linking its variants to primary aldosteronism and a new form of familial hypoaldosteronism.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

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.

Identification and analysis of individuals who deviate from their genetically-predicted phenotype

The paper identifies individuals deviating from genetically predicted phenotypes using UK Biobank data and shows they are enriched for rare genetic variants and clinical conditions.

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

The paper introduces a method to prioritize causal genes for complex traits by integrating GWAS data with gene expression and biological data, achieving high precision in gene-trait pair identification.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Genetics of skeletal proportions in two different populations

This study identifies 565 genetic loci associated with sitting height ratio (SHR) in two populations, finding distinct genetic signals from height and highlighting ancestry-specific effects.

Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids

The paper identifies cell type specific driver genes in autism-associated copy number loci using cerebral organoids and validates findings with CRISPR/Cas9-edited mosaic organoids.

Recovery of trait heritability from whole genome sequence data

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease

The paper identifies differentially methylated loci in individuals with end-stage kidney disease due to diabetic kidney disease, linking them to key pathways and genes.

Genes with Specificity for Expression in the Round Cell Layer of the Growth Plate are Enriched in GWAS of Human Height

The paper links GWAS height loci to genes specifically expressed in the round cell layer of the growth plate, showing significant associations after conditioning on other layers and known skeletal disorder genes.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

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

Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

The paper uses Mendelian randomization to confirm a causal link between L-glutamine levels and reduced painful crises in sickle cell disease, while finding no significant causal relationships for other metabolites.

Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome

The paper identifies BMI-associated metabolites using untargeted metabolomics and causal inference, finding both known and unknown metabolites with causal links to obesity.

Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology

The paper performs protein QTL analysis of IGF-I and its binding proteins in children to explore genetic regulation and growth mechanisms.

Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic loci and establishes causal relationships between educational attainment and healthy eating

The paper identifies 814 genetic loci associated with dietary habits using UK Biobank data and finds a causal link between education and dietary patterns.

Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms

Benchmarker evaluates gene prioritization algorithms using GWAS data through cross-validation, showing that combining strategies improves gene prioritization quality.

Interrogation of human hematopoiesis at single-cell and single-variant resolution

This study fine-maps genetic variants associated with blood cell traits and identifies cell types and causal mechanisms using single-cell chromatin accessibility data from the UK Biobank.

A positively selected, common, missense variant in FBN1 confers a 2.2 centimeter reduction of height in the Peruvian population

A common missense variant in FBN1 reduces height by 2.2 cm in Peruvians, showing strong positive selection and higher frequency in coastal Native American populations.

PAIRUP-MS: Pathway Analysis and Imputation to Relate Unknowns in Profiles from Mass Spectrometry-based metabolite data

PAIRUP-MS imputes and annotates unknown metabolite signals in mass spectrometry data, improving pathway analysis and meta-analysis power for metabolomics studies.

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

This study identifies 16 genome-wide significant loci associated with diabetic kidney disease, including a protective variant in the COL4A3 gene.

Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity.

The paper identifies MC4R mutations in African American and Hispanic children with severe early onset obesity, finding a 2.6% prevalence and three novel variants.

Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry

Meta-analysis of waist-to-hip ratio adjusted for BMI in 694,649 European-ancestry individuals identifies 463 signals in 346 loci, roughly one-third sexually dimorphic and mostly stronger in women.

Meta-analysis of genome-wide association studies for height and body mass index in ~700,000 individuals of European ancestry

This paper performs a meta-analysis of GWAS for height and BMI in 700,000 individuals, identifying 3,290 and 716 SNPs, with increased prediction accuracy.

Age at first birth in women is genetically associated with increased risk of schizophrenia

The paper finds a genetic association between schizophrenia risk and age at first birth in women, with different genetic correlations in younger and older age groups.

Estimation of genetic correlation using linkage disequilibrium score regression and genomic restricted maximum likelihood

This study compares LDSC and GREML methods for estimating genetic correlation, showing GREML provides higher accuracy, especially in the presence of genetic heterogeneity.