Author

Rituparna Sinha Roy

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Claudia M.B. CarvalhoiD· 2 shared Ming Yin Lun· 2 shared Anna LindstrandiD· 1 shared Bo YuaniD· 1 shared Chad A. ShawiD· 1 shared Chaofan ZhangiD· 1 shared Haowei DuiD· 1 shared Harshini Iyer· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Claudia M.B. CarvalhoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 8, 2025

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

Ming Yin Lun, Jennifer Ellen Posey, Jesse D. Bengtsson…·Claudia M.B. Carvalho

The paper presents a scalable CNV analysis workflow applied to rare disease cohorts, identifying 39 candidate pathogenic SVs within 2 days using collaborative tools and databases.

DOI 10.1101/2025.08.08.25333317

humanwhole-genome sequencing

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GeneticsbioRxivPreprintAug 2, 2025

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun…·Claudia M.B. Carvalho

The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.

DOI 10.1101/2025.08.02.668297

humanproteomics

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