Author

Malavika Hebbar

Manipal Academy of Higher EducationORCID 0000-0001-9527-9726Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Anju ShuklaiD· 2 shared Anshika SrivastavaiD· 2 shared Stephanie L. BielasiD· 2 shared Ahmet Oguzhan OzeniD· 1 shared Amy SchneideriD· 1 shared Ana KroloiD· 1 shared Anil Kanthi· 1 shared Ashleigh E. SchafferiD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersMolecular Biology

Anju ShuklaORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedAug 6, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

31 citationstop 1%

humanDNA methylation

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Molecular BiologybioRxivPreprintSep 6, 2022

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava…·Ashleigh E. Schaffer

This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.

DOI 10.1101/2022.09.06.506502

humanmouse

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GeneticsJournal of Human GeneticsPeer-reviewedMar 30, 2017

Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome

Anju Shukla, Malavika Hebbar, Anshika Srivastava…·Katta M. Girisha

This study identifies a homozygous ISCA1 variant causing a new type of multiple mitochondrial dysfunctions syndrome with similar clinical features to known MMDS types.

62 citations

humanstatistical model

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