Author

Claire A Grosgogeat

Brigham and Women's HospitalORCID 0000-0002-7842-9355Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:protein structure prediction· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Vandana GuptaiD· 2 shared Ágnes Tóth-PetróczyiD· 1 shared Alexis H. BennettiD· 1 shared Basil T. DarrasiD· 1 shared Brigham Genomic Medicine· 1 shared Caroline Jirka· 1 shared Elicia A. EstrellaiD· 1 shared J. VelillaiD· 1 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetics

Vandana GuptaORCID

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2 papers

Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedApr 11, 2019

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy

Caroline Jirka, Jasmine H Pak, Claire A Grosgogeat…·Vandana Gupta

This study identifies KLHL41's role in regulating NRAP degradation during skeletal muscle development, showing that its dysfunction contributes to nemaline myopathy pathology.

47 citations

zebrafishproteomics

𝕏 PostBluesky

GeneticsNeurology GeneticsPeer-reviewedMar 7, 2019

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

J. Velilla, Michael Mario Marchetti, Ágnes Tóth-Petróczy…·Vandana Gupta

This study identifies a homozygous TRPV4 mutation as a cause of congenital spinal muscular atrophy and arthrogryposis through whole exome sequencing and functional analysis.

25 citations

humanwhole-exome sequencing

𝕏 PostBluesky