Author

Lesley Snadden

National Health Service

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alan R. ShuldineriD· 2 shared Emma CowaniD· 2 shared Gannie TzonevaiD· 2 shared James F. WilsoniD· 2 shared Lucija KlarićiD· 2 shared Marisa D. MuckianiD· 2 shared Shona M. KerriD· 2 shared Zosia MiedzybrodzkaiD· 2 shared

Activity by Year

2024-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alan R. ShuldinerORCID

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2 papers

Recent·Most cited

Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results

Shona M. Kerr, Lucija Klarić, Marisa D. Muckian, Kiera Johnston, Camilla Drake, Mihail R. Halachev, Emma Cowan, Lesley Snadden, John Dean, Sean Lee Zheng, Prisca K. Thami, James S. Ware, Gannie Tzoneva, Alan R. Shuldiner, Zosia Miedzybrodzka, James F. Wilson

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

The American Journal of Human Genetics · Mar 14, 2025Peer-reviewedGenetic & Genomic Medicine

Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and Shetland

Shona M. Kerr, Lucija Klarić, Marisa D. Muckian, Emma Cowan, Lesley Snadden, Gannie Tzoneva, Alan R. Shuldiner, Zosia Miedzybrodzka, James F. Wilson

The paper identifies two founder BRCA variants in Orkney and Shetland populations, accounting for 93.5% of pathogenic BRCA alleles.

European Journal of Human Genetics · Oct 22, 2024Peer-reviewedGenetic & Genomic Medicine