Lisa Cannon‐Albright

The paper identifies a rare variant in the MEGF6 gene associated with osteoporosis through segregation analysis, functional assays, and protein structure modeling.

The paper identifies rare genetic variants associated with exceptional longevity through pedigree analysis and genomic screening in Utah populations.

This paper evaluates how sample size affects polygenic hazard score models for prostate cancer, finding that 20-30k samples are needed for discovery models, but 10k suffice if SNPs are pre-established.

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

The paper estimates population-based relative risks for breast cancer based on specific family history constellations, finding that multiple affected relatives significantly increase risk.

The paper evaluates a polygenic hazard score for prostate cancer screening, showing it improves positive predictive value by adjusting screening age based on genetic risk.

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

This study integrates a large prostate cancer GWAS with gene expression data to identify 235 genes associated with risk, prioritizing causal genes through Bayesian credible sets.

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.

This paper develops a genetic risk score to personalize prostate cancer screening age based on polygenic hazard scores and validates its predictive power in a separate dataset.