Author

Francis H. Sansbury

Cardiff and Vale University Health BoardORCID 0000-0002-5048-3309Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:deconvolution· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:statistical model· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 2 shared Helen S. StewartiD· 2 shared Helen V. FirthiD· 2 shared Meena BalasubramanianiD· 2 shared Sally Ann LynchiD· 2 shared Abhijit DixitiD· 1 shared Ajoy Sarkar· 1 shared Alice GardhamiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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 MedicinemedRxivPreprintOct 18, 2023

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

Harriet Copeland, Karen Jaqueline Low, Sarah Wynn…·Caroline Fiona Wright

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

2 citations

humanelectronic health records

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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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