Author

Austen J. J. Worth

Great Ormond Street HospitalORCID 0000-0001-6803-7385Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1 Assay:metagenomics· 1

Frequent Co-Authors

Cristina VenturiniiD· 2 shared Judith BreueriD· 2 shared Alain FischeriD· 1 shared Alain Lefèvre‐UtileiD· 1 shared Alasdair BamfordiD· 1 shared Alexander Antipenko· 1 shared Alexander LennoniD· 1 shared Alexandre BolzeiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cristina VenturiniORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of InfectionPeer-reviewedAug 7, 2023

Translating metagenomics into clinical practice of complex paediatric neurological presentations

Justin Penner, Jane K. Hassell, Julianne Rose Brown…·Sofia Morfopoulou

This study demonstrates that clinical metagenomics improves diagnostic outcomes for undiagnosed complex paediatric neurological cases, particularly in immunocompromised patients.

19 citations

humanmetagenomics

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Genetic & Genomic MedicinemedRxivPreprintSep 12, 2022

Persistent low-level variants in a subset of HCMV genes are highly predictive of poor outcome in immunocompromised patients with cytomegalovirus infection

Cristina Venturini, Julia Colston, Oscar J. Charles…·Judith Breuer

The paper identifies a viral signature from HCMV genes associated with poor outcomes in immunocompromised patients, using deep sequencing and machine learning.

2 citations

humanDNA methylation

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GeneticsProceedings of the National Academy of SciencesPeer-reviewedAug 2, 2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch…·Jean‐Laurent Casanova

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

44 citations

human

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