Author

Mhairi S. Marshall

Translational Research Institute

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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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aideen M McInerney-LeoiD· 3 shared Emma L. DuncaniD· 3 shared Matthew Arthur BrowniD· 3 shared Paul J. LeoiD· 3 shared Lawrie Wheeler· 2 shared Lisa K. AndersoniD· 2 shared April E. HartleyiD· 1 shared Arya Y. NakheiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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3 shared papersGenetics

Aideen M McInerney-LeoORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

GenomicsHuman Molecular GeneticsPeer-reviewedJul 16, 2021

Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding the role of the ErbB family in oncogenesis.

Aideen M McInerney-Leo, Hui Yi Chew, Po-Ling Inglis…·Emma L. Duncan

The paper identifies a germline ERBB3 mutation in a family with hereditary non-small cell lung cancer, showing it drives oncogenesis through altered signaling.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintFeb 4, 2020

A novel mutation in KCNK16 causing a gain-of-function in the TALK-1 potassium channel: a new cause of maturity onset diabetes of the young.

Sarah M. Graff, Stephanie R. Johnson, Paul J. Leo…·Emma L. Duncan

The paper identifies a novel gain-of-function mutation in KCNK16 causing MODY by impairing Ca2+ influx and glucose-stimulated insulin secretion.

DOI 10.1101/2020.02.04.929430

humanstatistical model

𝕏 PostBluesky

GeneticsbioRxivPreprintFeb 25, 2019

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

Celia Louise Gregson, Dylan J. M. Bergen, Paul Leo…·Emma L. Duncan

A rare SMAD9 mutation is linked to high bone mass, suggesting the BMP pathway as a potential osteoanabolic target.

DOI 10.1101/560565

humanmouse

𝕏 PostBluesky