Author

Marisa D. Muckian

London School of Hygiene & Tropical MedicineORCID 0000-0003-0419-3797Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1

Frequent Co-Authors

James F. WilsoniD· 3 shared Alan R. ShuldineriD· 2 shared Emma CowaniD· 2 shared Gannie TzonevaiD· 2 shared Lesley Snadden· 2 shared Lucija KlarićiD· 2 shared Shona M. KerriD· 2 shared Zosia MiedzybrodzkaiD· 2 shared

Activity by Year

2024-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

James F. WilsonORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 14, 2025

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…·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.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 22, 2024

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

Shona M. Kerr, Lucija Klarić, Marisa D. Muckian…·James F. Wilson

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

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature Human BehaviourPeer-reviewedAug 29, 2024

Genetic mechanisms of 184 neuro-related proteins in human plasma

Linda Repetto, Jiantao Chen, Zhijian Yang…·Xia Shen

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

14 citations

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 17, 2024

Shared genetic features between lymphoma pathogenesis and oestrogen levels.

Claire Hill, Marisa D. Muckian, Marisa Cañadas‐Garre…·Amy Jayne McKnight

This study identifies sex-specific genetic variants associated with lymphoma subtypes and oestrogen levels, revealing shared biological pathways influenced by oestrogen.

DOI 10.1101/2024.05.17.24307324

humanGWAS summary statistics

𝕏 PostBluesky