Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

Overview of attention for article published in European Journal of Human Genetics, March 2023

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In the top 5% of all research outputs scored by Altmetric
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Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and Shetland

Preprint in medRxiv (April 2024)

2023 in the European Journal of Human Genetics

Article in European Journal of Human Genetics (February 2024)

Molecular explanations for variability of clinical phenotypes

Article in European Journal of Human Genetics (May 2023)

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