Author

Hans W.M. Niessen

Amsterdam University Medical CentersORCID 0000-0001-9404-9822Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Abigail O. SmithiD· 1 shared Beyhan TüysüziD· 1 shared Cecilia W. Y. LoiD· 1 shared Désirée Dunstheimer· 1 shared Dimitra MichaiD· 1 shared Dinu Antony· 1 shared Gregory J. PazouriD· 1 shared Hannah M. MitchisoniD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail O. SmithORCID

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1 paper

Recent·Most cited

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara I. Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, , Gregory J. Pazour

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

PLoS Genetics · Jun 14, 2023Peer-reviewedGenetic & Genomic Medicine