Author

M. Leigh Anne Daniels

University of North Carolina at Chapel HillORCID 0000-0001-6979-2681Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amjad HoraniiD· 1 shared Donald F. ConradiD· 1 shared Hailey BoweniD· 1 shared Lawrence E. OstrowskiiD· 1 shared Maimoona A. ZariwalaiD· 1 shared Mathieu BottieriD· 1 shared Michael R. KnowlesiD· 1 shared Mihaela StoyanovaiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Amjad HoraniORCID

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1 paper

Recent·Most cited

GeneticsPLoS GeneticsPeer-reviewedAug 7, 2020

Mutation of CFAP57 causes primary ciliary dyskinesia by disrupting theasymmetric targeting of a subset of ciliary inner dynein arms

Ximena Minerva Bustamante-Marin, Amjad Horani, Mihaela Stoyanova…·Susan K. Dutcher

This study identifies mutations in CFAP57 as a cause of primary ciliary dyskinesia by showing they disrupt asymmetric inner dynein arm assembly in cilia.

49 citationstop 4%

humanmouse

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