Author

April Ruiz

Princess Anne 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

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alexander J. M. BlakesiD· 1 shared Amanda PichiniiD· 1 shared Ana Lisa Taylor TavaresiD· 1 shared Andrew G. L. DouglasiD· 1 shared Christine Pamela BurreniD· 1 shared David J. BunyaniD· 1 shared Diana BaralleiD· 1 shared Hassan E. Moledina· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander J. M. BlakesORCID

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Author profile →

1 paper

Recent·Most cited

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, Nicholas Simon Thomas, Christine Pamela Burren, Lynn Greenhalgh, Melissa M. Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, , Jenny Lord

This study analyzes splicing variants in whole-genome sequencing data to identify new diagnoses in rare diseases.

Genome Medicine · Jul 26, 2022Peer-reviewedGenetic & Genomic Medicine

April Ruiz · henhao