Helen Storey

Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Joel T. Gibson, Rachel Fieldhouse, Melanie Chan et al. · Journal of the American Society of Nephrology · 2021 · 184 citations · Full text

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Helen Storey, Judy Savige, Vanessa Sivakumar et al. · Journal of the American Society of Nephrology · 2013 · 175 citations · Full text

Evidence of digenic inheritance in Alport syndrome

Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey et al. · Journal of Medical Genetics · 2015 · 159 citations · Full text

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige, Helen Storey, E. Watson et al. · European Journal of Human Genetics · 2021 · 117 citations · Full text

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Helen Storey, Hae Il Cheong, Hee Gyung Kang et al. · PLoS ONE · 2016 · 99 citations · Full text