Author

Bronwyn A. Kerr

Manchester Academic Health Science CentreORCID 0000-0001-9962-8006Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 2 shared Giuseppe GalloneiD· 2 shared Helen V. FirthiD· 2 shared Matthew E. HurlesiD· 2 shared Sally Ann LynchiD· 2 shared Amelia J. Kirby· 1 shared Britton D. Zuccarelli· 1 shared David R FitzPatrickiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMay 21, 2021

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Caroline Fiona Wright, Nicholas M. Quaife, Laura Ramos-Hernández…·Nicola Whiffin

The paper identifies non-coding variants upstream of MEF2C causing severe developmental disorder through three distinct loss-of-function mechanisms, showing their diagnostic importance in existing exome datasets.

74 citationstop 1%

humanwhole-exome sequencing

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GeneticsGenome ResearchPeer-reviewedFeb 1, 2019

Pathogenicity and selective constraint on variation near splice sites

Jenny Lord, Giuseppe Gallone, Patrick Short…·on behalf of the Deciphering Developmental Disorders study

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.

93 citations

humanwhole-exome sequencing

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