Author

Lianne Gompertz

St Mary's HospitalORCID 0000-0002-8830-1830Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Amelia J. Kirby· 1 shared Britton D. Zuccarelli· 1 shared Bronwyn A. KerriD· 1 shared Caroline Fiona WrightiD· 1 shared Enrique Lara‐PezziiD· 1 shared Eugene J. GardneriD· 1 shared Francis H. SansburyiD· 1 shared Giuseppe GalloneiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amelia J. Kirby

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1 paper

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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