Eugene J. Gardner

The paper estimates the contribution of rare coding variants to cancer heritability using UK Biobank whole-exome sequencing data and finds ovarian cancer has the highest proportion of heritability from protein-truncating variants.

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.

The paper investigates the role of rare inherited coding variants in developmental disorders by analyzing family and case/control data, finding significant burdens of damaging variants and estimating their population attributable risk.

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

This study uses population-scale whole genome sequencing to identify novel rare protein-coding variants associated with cardiometabolic traits, revealing new biological mechanisms and gene functions.

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

The paper evaluates CNV detection from exome sequencing in the DDD study, finding it has higher sensitivity than low-resolution CMA and comparable sensitivity to exon-resolution CMA.

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

The paper identifies shared genetic architecture across different types of clonal hematopoiesis and finds that overlapping mutations increase hematological malignancy risk.

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

The paper identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.

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

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

The paper links reduced reproductive success to selective constraint on human genes, showing that damaging variants are associated with increased childlessness, particularly in males.

InDelible detects cryptic structural variants in exome sequencing data, improving diagnostic yield for developmental disorders by identifying variants missed by standard methods.

The paper identifies non-coding variants upstream of MEF2C causing severe developmental disorder through three distinct loss-of-function mechanisms, showing their diagnostic importance in existing exome datasets.

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

The paper identifies 299 new genes associated with developmental disorders using exome data from 31,058 trios and finds many more likely remain undiscovered.

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.