Author

Michael Mario Marchetti

Brigham and Women's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetics· 1

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

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

J. Velilla, Michael Mario Marchetti, Ágnes Tóth-Petróczy, Claire A Grosgogeat, Alexis H. Bennett, Nikkola E. Carmichael, Elicia A. Estrella, Basil T. Darras, Brigham Genomic Medicine, Natasha Y. Frank, Joël Krier, Rachelle Gaudet, 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.

Neurology Genetics · Mar 7, 2019Peer-reviewedGenetics