Author

Marina Quinlan

Hammersmith Hospital

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alaine BerryiD· 1 shared Antonio de MarvaoiD· 1 shared Antonis A. PantazisiD· 1 shared Arun John BaksiiD· 1 shared Ben K. StattoniD· 1 shared Brian P. HallidayiD· 1 shared Carlo BiffiiD· 1 shared Carolyn Yung HoiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alaine BerryORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of the American College of CardiologyPeer-reviewedSep 1, 2021

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

Antonio de Marvao, Kathryn A. McGurk, Sean Lee Zheng…·Declan P. O’Regan

This study examines the clinical impact of rare variants in HCM-associated genes in the UK Biobank, finding that pathogenic variants are linked to increased cardiovascular risk and subclinical phenotypes, while non-pathogenic variants show minimal effect.

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humanwhole-exome sequencing

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