Author

Ashvani K. Singh

AbbVie (United States)ORCID 0009-0009-8470-0218Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein folding & dynamics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aparna VasanthakumariD· 1 shared Aya M. Saleh· 1 shared Azib Hagos· 1 shared Bridget M. Riley-GillisiD· 1 shared Chris TseiD· 1 shared Corina BalutiD· 1 shared David J. Hardee· 1 shared Fedik RahimoviD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aparna VasanthakumarORCID

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2 papers

Recent·Most cited

BiochemistrybioRxivPreprintMar 10, 2025

A new corrector rescues F508del-CFTR folding through stabilization of the TMD1-NBD1 linker

Peter van der Sluijs, Olga Papaioannou, Azib Hagos…·Ineke Braakman

This paper introduces X307810, a new C2 corrector that significantly improves F508del-CFTR folding and function by stabilizing the TMD1-NBD1 linker, achieving 80% wild-type levels.

1 citation

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintMar 10, 2023

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

Justin E. Ideozu, Mengzhen Liu, Bridget M. Riley-Gillis…·Aparna Vasanthakumar

The paper characterizes CFTR variant diversity across six ancestries using UK Biobank whole exome sequences, identifying ancestry-specific variants and associations with CF-related phenotypes.

1 citation

humanwhole-exome sequencing

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