Author

Anthony David Caffarelli

Hoag Memorial Hospital Presbyterian

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anji T. YetmaniD· 2 shared Dawn S. HuiiD· 2 shared Dianna M. MilewicziD· 2 shared Dongchuan GuoiD· 2 shared Héctor I. MichelenaiD· 2 shared Ilenia FoffaiD· 2 shared Julie F A De BackeriD· 2 shared Justin Thomas TretteriD· 2 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anji T. YetmanORCID

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2 papers

Recent·Most cited

Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

Steven Grant Carlisle, Hasan Albasha, Héctor I. Michelena, Anna Sabaté-Rotés, Lisa Bianco, Julie F A De Backer, Laura Muiño Mosquera, Anji T. Yetman, Malenka M. Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S. Hui, Anthony David Caffarelli, Yuli Y. Kim, Dongchuan Guo, , Siddharth K. Prakash

The paper identifies rare genomic copy number variants (CNVs) in early-onset bicuspid aortic valve (EBAV) cases, implicating new candidate genes like GATA4 and DSCAM in BAV pathogenesis.

PLoS ONE · Sep 6, 2024Peer-reviewedGenetic & Genomic Medicine

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

Sara Mansoorshahi, Anji T. Yetman, Malenka M. Bissell, Yuli Y. Kim, Héctor I. Michelena, Julie F A De Backer, Laura Muiño Mosquera, Dawn S. Hui, Anthony David Caffarelli, Maria Grazia Andreassi, Ilenia Foffa, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin Thomas Tretter, , Siddharth K. Prakash

The paper uses whole exome sequencing to identify rare genetic variants associated with early onset complications of Bicuspid Aortic Valve in families.

The American Journal of Human Genetics · Sep 2, 2024Peer-reviewedGenetic & Genomic Medicine