Author

Joanne L. Stone

Icahn School of Medicine at Mount SinaiORCID 0000-0002-4854-2066Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adrianna SorianoiD· 1 shared Amy M. BremaniD· 1 shared April O’Connor· 1 shared Arthur L. BeaudetiD· 1 shared Audrey Anne MerriamiD· 1 shared Cameron Roark· 1 shared Elisabete Amaral· 1 shared Jae‐Weon KimiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adrianna SorianoORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 29, 2023

Validation study for noninvasive single-cell-based prenatal genetic testing

Michelle Bellair, Elisabete Amaral, Mason Ouren…·Arthur L. Beaudet

This study validates a noninvasive prenatal genetic test using single trophoblast analysis, showing high concordance with CVS/amniocentesis for aneuploidy and deletions/duplications.

DOI 10.1101/2023.08.29.23294301

humanbulk RNA-seq

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