Author

Alexis H. Bennett

Brigham and Women's HospitalORCID 0000-0003-1223-6785Unclaimed 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 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Vandana GuptaiD· 2 shared Ágnes Tóth-PetróczyiD· 1 shared Alan H. BeggsiD· 1 shared Anirban ChakrabortyiD· 1 shared Aye T. Chan· 1 shared Basil T. DarrasiD· 1 shared Brigham Genomic Medicine· 1 shared Claire A GrosgogeatiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Vandana GuptaORCID

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2 papers

Recent·Most cited

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

GeneticsPLoS GeneticsPeer-reviewedMar 8, 2018

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes

Alexis H. Bennett, Marie-Françoise O’Donohue, Stacey R. Gundry…·Vandana Gupta

This study identifies DDX27 as a regulator of skeletal muscle growth and regeneration by modulating translational processes and ribosome biogenesis in zebrafish.

47 citations

zebrafishexperimental assay

𝕏 PostBluesky