Author

Mohini Gupta

Banaras Hindu UniversityORCID 0009-0009-4979-444XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1

Frequent Co-Authors

Bhagyalaxmi MohapatraiD· 2 shared Amrita Mukhopadhyay· 1 shared Amrita MukhopadhyayiD· 1 shared Ashok KumariD· 1 shared Dharmendra JainiD· 1 shared Manohar Lal YadaviD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

6 top collaborators · 9 mutual co-author links

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2 shared papersGenetics

Bhagyalaxmi MohapatraORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintSep 4, 2026

Implication of a rare variant in OPA1 in Cardiac Pathophysiology: From Cristae Remodelling to Contractile Dysfunction

Mohini Gupta, Amrita Mukhopadhyay, Ashok Kumar, Bhagyalaxmi Mohapatra

The paper identifies a rare OPA1 variant linked to dilated cardiomyopathy (DCM) through whole-exome sequencing and functional analysis, showing its impact on mitochondrial dynamics and cellular health.

DOI 10.64898/2026.08.31.748193

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintAug 11, 2026

A loss-of-function mutation in the GTPase domain of MFN2, perverting mitochondrial dynamics, is associated with dilated cardiomyopathy

Mohini Gupta, Amrita Mukhopadhyay, Manohar Lal Yadav…·Bhagyalaxmi Mohapatra

The paper identifies a de novo MFN2 mutation linked to dilated cardiomyopathy through functional and structural analysis.

DOI 10.64898/2026.08.10.26360061

humanwhole-exome sequencing

𝕏 PostBluesky