Joseph J. Grzymski

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

The paper identifies GCK variant carriers at increased risk for T2D and its complications, despite their glucose elevations not meeting standard T2D criteria.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.

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

The paper introduces Power Window, a method to identify clinically impactful regions of genes using population-scale datasets, showing improved accuracy in variant effect prediction.

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.

This study uses EHR and genetics to perform GWAS and PheWAS on BMI and obesity, identifying known and novel variants and phenotypic associations.

This study performs GWAS and PheWAS on red blood cell components in a Northern Nevadan cohort, identifying genetic associations and linking SNPs to phenotypic diagnoses.

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.

The paper shows that Prochlorococcus MED4 reduces nitrogen content in transcripts under nitrogen deprivation by using internal transcription start sites and shorter transcripts.