Author

Reena Sharma

Northern Care Alliance NHS Foundation TrustORCID 0000-0003-3334-8081Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Reena Sharma2 papers · Brookhaven National Laboratory

Biology Disciplines

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Genetics· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Assay:imaging· 1 Organism:mouse· 1

Frequent Co-Authors

Aimée DonaldiD· 1 shared Alfonso Bueno‐OrovioiD· 1 shared Anthony H.V. SchapiraiD· 1 shared C S SmithiD· 1 shared Charalampos SigalasiD· 1 shared Christos ProukakisiD· 1 shared Dave SmithiD· 1 shared David Priestman· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

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2 papers

Recent·Most cited

PhysiologybioRxivPreprintJul 9, 2026

Molecular and Structural Basis of Cardiac Remodelling in Niemann-Pick Type C

Qianqian Song, Ishika Prachee, Karolina M. Stępień…·Rebecca A.B. Burton

This study identifies cardiac involvement in Niemann-Pick type C through ECG abnormalities, fibrosis, and transcriptomic changes in patients and Npc1-/- mice.

DOI 10.64898/2026.07.05.736597

𝕏 PostBluesky

GeneticsMolecular Genetics & Genomic MedicinePeer-reviewedJan 13, 2019

Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Melissa Leija‐Salazar, Fritz Joachim Sedlazeck, Marco Toffoli…·Christos Proukakis

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.

87 citationstop 2%

humanwhole-genome sequencing

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