Author

Gandham SriLakshmi Bhavani

Manipal Academy of Higher EducationORCID 0000-0001-5284-8909Unclaimed ORCID profile · follow to get notified of new preprints

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Gandham SriLakshmi Bhavani1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Research Focus:variant calling· 1 Organism:zebrafish· 1

Frequent Co-Authors

Katta M. GirishaiD· 2 shared Aarti SevilimeduiD· 1 shared Afrah AlshammariiD· 1 shared Akhil Kanathay Ashokan· 1 shared Alaa A. Mohammed· 1 shared Alka V. Ekbote· 1 shared Andrew E. FryiD· 1 shared Anju ShuklaiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Katta M. GirishaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedJun 27, 2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders

Ankur Chaurasia, Anju Shukla, Shruti Pande…·Katta M. Girisha

The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintApr 5, 2024

Biallelic Variants in CCN2 Underlie an Autosomal Recessive Kyphomelic Dysplasia

Swati Singh, Sumita Danda, Neetu Sharma…·Katta M. Girisha

This study identifies biallelic CCN2 variants as the cause of autosomal recessive kyphomelic dysplasia through clinical, genetic, and zebrafish model analyses.

2 citations

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