Author

Thashi Bharadwaj

Columbia University Irving Medical CenterORCID 0000-0002-7870-5655Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ahmet YeşilyurtiD· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Anju ShuklaiD· 1 shared Christopher J. CarrolliD· 1 shared Deniz KöriD· 1 shared Erum AfzaliD· 1 shared Eyyüp ÜçtepeiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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