Author

Phalguni Rath

Centre for Human GeneticsORCID 0009-0008-1099-8966Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Pathology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:biophysical modeling· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Approach:deep learning· 1 Assay:electrophysiology· 1 Approach:experimental assay· 1

Frequent Co-Authors

Benjamin DaviesiD· 2 shared Albert DasíiD· 1 shared Alexander J. SparrowiD· 1 shared Alistair T. PagnamentaiD· 1 shared Amar J. AzadiD· 1 shared Amor Mia AlvioriD· 1 shared Amy TrebesiD· 1 shared Andrew P. HolmesiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersPathology

Benjamin DaviesORCID

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2 papers

Recent·Most cited

PathologyCirculation Arrhythmia and ElectrophysiologyPeer-reviewedJun 25, 2025

Early atrial remodelling drives arrhythmia in Fabry Disease

Ashwin Roy, Christopher O’Shea, Albert Dasí…·Richard Paul Steeds

This study identifies early atrial remodelling as a driver of arrhythmia in Fabry Disease by combining ECG analysis, iPSC-derived cardiomyocytes, and in-silico modelling.

7 citationstop 3%

humanelectrophysiology

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Genetic & Genomic MedicinemedRxivPreprintAug 20, 2024

An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by the de novo creation of a cardiomyocyte enhancer.

Carin P. de Villiers, Damien J. Downes, Anuj Goel…·Hugh C Watkins

The paper identifies a de novo enhancer mutation in KCNB1 causing ST Depression Syndrome, a cardiac arrhythmia, and shows it can be predicted by a deep neural network.

DOI 10.1101/2024.08.20.24312115

humanwhole-genome sequencing

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