Author

Richard J C Bowman

Great Ormond Street HospitalORCID 0000-0001-5422-4104Unclaimed ORCID profile · follow to get notified of new preprints

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Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Emogene Shaw· 1 shared Ian FlitcroftiD· 1 shared Kate BakeriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Emogene Shaw

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedMar 8, 2024

Cerebral Visual Impairment: genetic diagnoses and phenotypic associations

Emogene Shaw, Ian Flitcroft, Richard J C Bowman, Kate Baker

This study identifies genetic variants associated with cerebral visual impairment (CVI) in two cohorts and highlights phenotypic associations with neurodevelopmental disorders.

11 citations

humanwhole-exome sequencing

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