Author

Richard M. Monaghan

Manchester Academic Health Science CentreORCID 0000-0002-3323-1337Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Alex Vincent PostmaiD· 1 shared Ana TöpfiD· 1 shared Barbara J.M. MulderiD· 1 shared Bernard D. KeavneyiD· 1 shared Connie R. BezzinaiD· 1 shared David Scott WinlawiD· 1 shared Donna J. PageiD· 1 shared Elisavet FotiouiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

1 shared paperGenetics

Alex Vincent PostmaORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

GeneticsbioRxivPreprintApr 13, 2018

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

DOI 10.1101/300905

humanwhole-exome sequencing