Author

Phillip M. Cox

Birmingham Women's HospitalORCID 0000-0002-4636-5668Unclaimed 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 Assay:DNA methylation· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Alex von KriegsheimiD· 1 shared Alison M. MeynertiD· 1 shared Andrew J. FinchiD· 1 shared Andrew P. JacksoniD· 1 shared Archith KamathiD· 1 shared Bernard H. Ramsahoye· 1 shared David R FitzPatrickiD· 1 shared Denise WilliamsiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alex von KriegsheimORCID

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1 paper

Recent·Most cited

GeneticsPLoS GeneticsPeer-reviewedMar 11, 2019

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Mark T. Handley, Kaalak Reddy, Jimi C. Wills…·David R FitzPatrick

This paper identifies ITPA mutations causing a lethal infantile dilated cardiomyopathy with Martsolf syndrome features and describes the molecular consequences of ITPase deficiency.

32 citations

humanDNA methylation

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