Author

Nikkola E. Carmichael

Brigham and Women's HospitalORCID 0000-0002-2999-8279Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Ágnes Tóth-PetróczyiD· 1 shared Alexis H. BennettiD· 1 shared Basil T. DarrasiD· 1 shared Brigham Genomic Medicine· 1 shared Claire A GrosgogeatiD· 1 shared Elicia A. EstrellaiD· 1 shared J. VelillaiD· 1 shared Joël Krier· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Ágnes Tóth-PetróczyORCID

Mutual co-authors in cluster

Author profile →

1 paper

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