Author

Brigham Genomic Medicine

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

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Organism:human· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ágnes Tóth-PetróczyiD· 1 shared Alexis H. BennettiD· 1 shared Anatoly M. Kokorev· 1 shared Anne B. Skvorak GierschiD· 1 shared Arezou A. GhazaniiD· 1 shared Basil T. DarrasiD· 1 shared Claire A GrosgogeatiD· 1 shared Cynthia Casson MortoniD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Ágnes Tóth-PetróczyORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Biomedical InformaticsPeer-reviewedAug 23, 2022

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Michael Bouzinier, Dmitry Etin, S I Trifonov…·Joel B. Krier

AnFiSA is an open-source platform for analyzing sequencing data in rare genetic disease, addressing reproducibility, adaptability, and explainability in genomic analysis.

2 citations

whole-genome sequencingstatistical model

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