Author

Brianna St John

Walter and Eliza Hall Institute of Medical Research

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ayush SemwaliD· 1 shared Bruno ReversadeiD· 1 shared Frédérique MagdinieriD· 1 shared James LancasteriD· 1 shared Kathleen ZeglinskiiD· 1 shared Lucinda C. XiaoiD· 1 shared Marnie E. BlewittiD· 1 shared Matthew E. RitchieiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ayush SemwalORCID

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1 paper

Recent·Most cited

D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohorts

Lucinda C. Xiao, Ayush Semwal, Brianna St John, Kathleen Zeglinski, Shian Su, James Lancaster, Shifeng Xue, Bruno Reversade, Matthew E. Ritchie, Frédérique Magdinier, Marnie E. Blewitt, Quentin A. Gouil

This paper develops D4Z4End2End, a workflow using long-read sequencing to characterize D4Z4 macrosatellite genetics and methylation in FSHD, BAMS, and reference cohorts, revealing new variants and methylation patterns.

medRxiv · Apr 24, 2025 · PreprintGenetic & Genomic Medicine