Author

Roshni Madhvani

Stanford MedicineORCID 0000-0002-6876-5419Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Archana Natarajan RajaiD· 1 shared Cédric EspeneliD· 1 shared Chunli ZhaoiD· 1 shared Colleen A. CaleshuiD· 1 shared David AmariD· 1 shared David Jimenez‐MoralesiD· 1 shared Euan Angus AshleyiD· 1 shared Gerald J. BerryiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Archana Natarajan RajaORCID

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1 paper

Recent·Most cited

GeneticsCirculation Genomic and Precision MedicinePeer-reviewedNov 22, 2021

Mono- and bi-allelic protein truncating variants in alpha-actinin 2 cause cardiomyopathy through distinct mechanisms

Maléne E. Lindholm, David Jimenez‐Morales, Han Zhu…·Matthew Thomas Wheeler

The paper investigates how mono- and bi-allelic ACTN2 mutations cause cardiomyopathy through distinct mechanisms using patient-derived iPSC-cardiomyocytes and CRISPR-Cas9 editing.

26 citations

humanexperimental assay

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