Natasha T. Strande

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

The paper identifies splice-disrupting mutations in hotspot exons and shows that antisense oligonucleotides (ASOs) can revert splicing defects in these exons.

The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

The paper estimates the prevalence of FLCN pathogenic variants and BHD-related phenotypes in a healthcare population, finding a higher frequency than previously reported and underdiagnosis of BHD.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.