Author

ROGER D. VAUGHAN

Rockefeller University HospitalORCID 0000-0002-1336-4079Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Agata SmogorzewskaiD· 1 shared Andrew J. DeansiD· 1 shared Arleen D. AuerbachiD· 1 shared Carlo DufouriD· 1 shared Caroline S. JiangiD· 1 shared Danielle C. Kimble· 1 shared Filomena PierriiD· 1 shared Francis P. LachiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Agata SmogorzewskaORCID

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1 paper

Recent·Most cited

Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants

Moonjung Jung, Ramanagouda Ramanagoudr‐Bhojappa, Sylvie van Twest, Rasim Özgür Rosti, Vincent J. Murphy, Winnie Tan, Frank X. Donovan, Francis P. Lach, Danielle C. Kimble, Caroline S. Jiang, ROGER D. VAUGHAN, Parinda A. Mehta, Filomena Pierri, Carlo Dufour, Arleen D. Auerbach, , Settara C. Chandrasekharappa

The paper correlates clinical severity in Fanconi anemia with residual function of FANCB missense variants through biochemical and cell-based assays.

Blood · Feb 27, 2020Peer-reviewedMolecular Biology