Author

Dianna G. Fisk

Stanford MedicineORCID 0009-0002-8217-1438Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alexis J. BattleiD· 1 shared Benjamin J. StroberiD· 1 shared Boxiang LiuiD· 1 shared Brunilda BalliuiD· 1 shared Cameron J. PryboliD· 1 shared Craig SmailiD· 1 shared Devon E. BonneriD· 1 shared Diane B. ZastrowiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alexis J. BattleORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintSep 4, 2018

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Kevin S. Smith…·Stephen B. Montgomery

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

10 citations

humanwhole-exome sequencing

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