Author

Michael R. Knowles

University of North Carolina at Chapel HillORCID 0000-0002-4672-5969Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Approach:experimental assay· 2 Organism:mouse· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Amjad HoraniiD· 2 shared Hong DangiD· 2 shared Maimoona A. ZariwalaiD· 2 shared Mathieu BottieriD· 2 shared Wanda K. O’NealiD· 2 shared Alan BrowniD· 1 shared Alan J. QuigleyiD· 1 shared Alex von KriegsheimiD· 1 shared

Activity by Year

2020-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amjad HoraniORCID

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4 papers

Recent·Most cited

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Carolin Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, , Pleasantine Mill

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

Science · Apr 25, 2024Peer-reviewedGenetic & Genomic Medicine

Long G4-rich enhancer physically interacts with EXOC3 promoter via a G4:G4 DNA-based mechanism

Jeffrey D. DeMeis, Justin T. Roberts, Haley A Delcher, Noel L Godang, Alexander B. Coley, Cana L. Brown, Michael H Shaw, Sayema Naaz, Enas S. Alsatari, Ayush Dahal, Shahem Y Alqudah, Kevin N Nguyen, Anita D Nguyen, Sunita S. Paudel, Hong Dang, , Glen Mark Borchert

The paper identifies LG4 enhancers that physically interact with gene promoters via G4:G4 DNA structures and links SNPs in these enhancers to CF lung disease severity.

bioRxiv · Jan 29, 2024 · PreprintGenetics

Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patients

Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth Pugh, Scott M. Blackman, , Yun Li

The paper improves genotype imputation for CF patients using the TOPMed reference panel and a CF-specific imputation panel, enhancing marker coverage and PRS accuracy.

Human Genetics and Genomics Advances · Jan 11, 2022Peer-reviewedGenetics

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, Wu‐Lin Charng, Mathieu Bottier, Patrick R. Sears, Weining Yin, M. Leigh Anne Daniels, Hailey Bowen, Donald F. Conrad, Michael R. Knowles, Lawrence E. Ostrowski, Maimoona A. Zariwala, 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.

PLoS Genetics · Aug 7, 2020Peer-reviewedGenetics