Leigh M. Jackson

This study estimates the prevalence and penetrance of heritable retinoblastoma in adult cohorts using genomic data and health records, finding lower penetrance than clinical cohorts.

The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.

The paper estimates penetrance of SCID variants in a population cohort, finding low penetrance and suggesting SCID remains a strong candidate for genomic newborn screening.

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

This study examines genotype-treatment interactions in endocrine therapy for breast cancer using UK Biobank data and finds no significant associations between genomic variants and adverse drug effects.

This paper develops a polygenic risk score model to predict colorectal cancer risk in symptomatic patients using UK Biobank data, achieving high predictive accuracy.

The paper uses whole-genome sequencing data from UK Biobank participants to identify rare non-coding variants and regions associated with circulating protein levels.

The paper examines how family history affects cancer penetrance in individuals with pathogenic variants, finding higher risks with family history for BRCA1/2 and Lynch syndrome.

This study evaluates SNP-chip accuracy for detecting rare pathogenic variants and finds low precision for very rare variants, highlighting risks for DTC genetic testing.

A GWAS of erectile dysfunction identifies a new locus at 6q16.3, implicating hypothalamic neurobiology and diabetes in its etiology.