Concepedia

Helen Storey

HS

Statistics

Publications

15

Citations

1.1K

H-Index

14

Active since

2002

Affiliations

The University of Melbourne(Current)

Guy's and St Thomas' NHS Foundation Trust

Odense University Hospital

Northern Health

Helen Storey is an author at The University of Melbourne specializing in genetics, medical genetics, and life sciences.

Publications per year

2002–2022

15

Publications

15

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 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 186 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Evidence of digenic inheritance in Alport syndrome

Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey et al. · Journal of Medical Genetics · 2015 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 127 citations · Full text

Medicine, Genetics, Nephrology +17

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 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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