Author

Paul J. Leo

Translational Research InstituteORCID 0000-0001-8325-4134Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Organism:human· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Organism:mouse· 1

Frequent Co-Authors

Aideen M McInerney-LeoiD· 4 shared Emma L. DuncaniD· 3 shared Matthew Arthur BrowniD· 3 shared Mhairi S. Marshall· 3 shared Lawrie Wheeler· 2 shared Lisa K. AndersoniD· 2 shared April E. HartleyiD· 1 shared Arya Y. NakheiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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4 shared papersGenetics

Aideen M McInerney-LeoORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 23, 2025

Expert Perspectives on Clinical Laboratory Accreditation for Polygenic Risk Scores

Courtney K. Wallingford, Tenielle Clinch, Lindsay Fowles…·Tatiane Yanes

This study identifies key considerations for accrediting polygenic risk score testing through stakeholder consultations and proposes checklists for quality assessment.

DOI 10.1101/2025.07.23.25332024

statistical modelbenchmarking

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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

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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

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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

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