Susan K. Dutcher

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

The paper identifies cellular defects beyond motility loss in ciliopathies caused by CCDC39/CCDC40 variants, showing proteostasis disruption and cell fate switching.

This paper describes a U-ExM protocol for analyzing subcellular structures in mouse and human kidney tissues with high detail using conventional microscopy.

The paper investigates how reduced dosage of dynein arm preassembly factors affects cilia regeneration in Chlamydomonas reinhardtii, finding that double heterozygosity limits dynein arm assembly.

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

This study identifies mutations in CFAP57 as a cause of primary ciliary dyskinesia by showing they disrupt asymmetric inner dynein arm assembly in cilia.

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

The paper maps and characterizes structural variants in 17,795 human genomes, revealing their frequency, impact, and relationship to gene dosage and regulatory elements.