Author

Denise Williams

Birmingham Women’s and Children’s NHS Foundation TrustORCID 0000-0001-8799-7672Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew P. JacksoniD· 2 shared Alan DonaldsoniD· 1 shared Alejandro SifrimiD· 1 shared Alex C. Magee· 1 shared Alex von KriegsheimiD· 1 shared Alison Hills· 1 shared Alison M. MeynertiD· 1 shared Alison Ross· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew P. JacksonORCID

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2 papers

Recent·Most cited

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia A. Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Deciphering Developmental Disorders Study, Silvia Borras, Caroline Clark, , Therese Bradley

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

Nature Communications · Jan 27, 2021Peer-reviewedGenetic & Genomic Medicine

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Mark T. Handley, Kaalak Reddy, Jimi C. Wills, Elisabeth M. Rosser, Archith Kamath, Mihail R. Halachev, Gavin Falkous, Denise Williams, Phillip M. Cox, Alison M. Meynert, Eleanor S. Raymond, Harris Morrison, S.D.M. Brown, Emma Allan, Irene A. Aligianis, , 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.

PLoS Genetics · Mar 11, 2019Peer-reviewedGenetics