Author

Peter H. Dixon

Imperial College LondonORCID 0000-0002-0197-2632Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Catherine WilliamsoniD· 2 shared Eamonn Richard MaheriD· 2 shared Gerome D. BreeniD· 2 shared Adam P. LevineiD· 1 shared Adrian James ThrasheriD· 1 shared Agnieszka BierżyńskaiD· 1 shared Ahsan KhaniD· 1 shared Alba Sanchis‐JuaniD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Catherine WilliamsonORCID

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2 papers

Recent·Most cited

A Genes & Health pilot recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease

Maria Constantinides, Joseph Gafton, Ana Cristina Angel Garcia, Eamonn Richard Maher, Shabana Chaudhary, Karen A. Hunt, Shapna Hussain, Kamrul Islam, Mohammed Bodrul Mazid, Elizabeth Owor, Jessry Russell, Nishat Safa, John Solly, Marie Spreckley, David A. van Heel, , Upkar S. Gill

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

Communications Medicine · Dec 23, 2025Peer-reviewedGenetic & Genomic Medicine

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, , Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Nature · Jun 24, 2020Peer-reviewedGenomics