Author

Elizabeth A. Jones

St Mary's HospitalORCID 0000-0002-0059-8829Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Elizabeth A. Jones1 paper · University of Warwick

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Amy SchneideriD· 1 shared Andrew R. WebsteriD· 1 shared Anthony Kevin Webb· 1 shared Beatriz Gomes-SilvaiD· 1 shared Bekim SadikovićiD· 1 shared Cassandra RastiniD· 1 shared Charlie F RowlandsiD· 1 shared Christopher Campbell· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy SchneiderORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedAug 6, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

31 citationstop 1%

humanDNA methylation

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GenomicsbioRxivPreprintSep 26, 2019

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands…·Graeme Charles M. Black

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

18 citations

humanwhole-exome sequencing

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