Author

Stéphanie A. Mauriac

Boston Children's HospitalORCID 0000-0002-6718-2748Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aiden Eliot SheareriD· 1 shared Gwenaëlle S. G. GéléociD· 1 shared Shelby E. RedfieldiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

3 top collaborators · 3 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aiden Eliot ShearerORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part C Seminars in Medical GeneticsPeer-reviewedApr 18, 2025

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets

Shelby E. Redfield, Stéphanie A. Mauriac, Gwenaëlle S. G. Géléoc, Aiden Eliot Shearer

This study analyzes the genomic prevalence of Usher syndrome using large databases, identifying key therapeutic targets and estimating population impact.

4 citations

humanwhole-genome sequencing

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