Author

Anne Griffin

Memorial University of NewfoundlandORCID 0000-0002-5320-5750Unclaimed 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:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Cindy Penney· 1 shared Guangju ZhaiiD· 1 shared Maxime MaheuiD· 1 shared Nelly Abdelfatah· 1 shared Pingzhao HuiD· 1 shared Susan G. StantoniD· 1 shared Tammy Benteau· 1 shared Terry‐Lynn YoungiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Cindy Penney

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintAug 22, 2025

Haploinsufficiency of KPNA7 causes otosclerosis, likely due to the release of import inhibition of PTHrP and the reactivation of chondrogenesis in the globuli interossei

Tammy Benteau, Nelly Abdelfatah, Anne Griffin…·Terry‐Lynn Young

This study identifies a KPNA7 mutation causing otosclerosis by disrupting PTHrP nuclear transport and reactivating chondrogenesis in the otic capsule.

DOI 10.1101/2025.08.22.671726

humanstatistical model

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