Author

Anji T. Yetman

Children's Hospital & Medical CenterORCID 0000-0001-6853-578XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:imaging· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Dianna M. MilewicziD· 3 shared Anthony David Caffarelli· 2 shared Dawn S. HuiiD· 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

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Dianna M. MilewiczORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

Early Diagnosis of Vascular Ehlers-Danlos Syndrome Through AI-Powered Facial Analysis: Results from the Montalcino Aortic Consortium

David R. Murdock, Adarsh Suresh, Ernesto Calderón Martinez…·Dianna M. Milewicz

The paper develops an AI facial analysis model to diagnose vascular Ehlers-Danlos syndrome (vEDS) using facial images, achieving high accuracy in distinguishing vEDS from controls and hypermobile EDS.

3 citations

humanimaging

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Genetic & Genomic MedicinePLoS ONEPeer-reviewedSep 6, 2024

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

Steven Grant Carlisle, Hasan Albasha, Héctor I. Michelena…·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.

8 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 2, 2024

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…·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.

12 citations

humanwhole-exome sequencing

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