Author

Stephanie Kahan

Invitae (United States)

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· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Dana Neitzel· 1 shared Darlene Riethmaier· 1 shared Julia Wilkinson· 1 shared Keith NykampiD· 1 shared Nicole E. FaulkneriD· 1 shared Rebecca TrutyiD· 1 shared Sara L. BristowiD· 1 shared Sienna J. AguilariD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Dana Neitzel

Mutual co-authors in cluster

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1 paper

Recent·Most cited

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

Keith Nykamp, Rebecca Truty, Darlene Riethmaier, Julia Wilkinson, Sara L. Bristow, Sienna J. Aguilar, Dana Neitzel, Nicole E. Faulkner, Stephanie Kahan, Swaroop Aradhya

The paper assesses the phenotypic risks of CFTR T5 haplotype variants in individuals without the R117H variant, finding associations with disease severity and penetrance.

Human Mutation · Jul 1, 2021Peer-reviewedGenetic & Genomic Medicine