Author

Mathieu Bottier

University of DundeeORCID 0000-0002-3148-6491Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2 Organism:mouse· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amjad HoraniiD· 2 shared Maimoona A. ZariwalaiD· 2 shared Michael R. KnowlesiD· 2 shared Alan BrowniD· 1 shared Alan J. QuigleyiD· 1 shared Alex von KriegsheimiD· 1 shared Alison M. MeynertiD· 1 shared Amelia ShoemarkiD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Amjad HoraniORCID

Mutual co-authors in cluster

Author profile →

2 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

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