Author

Jenny E.V. Morton

Birmingham Women's Hospital

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Helen S. StewartiD· 2 shared Abhijit DixitiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared Alison Stewart· 1 shared Amelia J. Kirby· 1 shared Andrea Hilary NemethiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Helen S. StewartORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintJul 26, 2022

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

2 citations

humanwhole-exome sequencing

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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

𝕏 PostBluesky