Author

Gina Murillo Knudsen

Universidad de Costa RicaORCID 0000-0003-2976-6301Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alan J. MighelliD· 1 shared Catriona J. BrowniD· 1 shared Chris F. InglehearniD· 1 shared Claire E. L. SmithiD· 1 shared Francesca A Soldani· 1 shared Georgios NikolopoulosiD· 1 shared Ian R BerryiD· 1 shared James A. PoulteriD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Alan J. MighellORCID

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1 paper

Recent·Most cited

Molecular BiologyHuman MutationPeer-reviewedFeb 18, 2021

Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20

Georgios Nikolopoulos, Claire E. L. Smith, James A. Poulter…·Alan J. Mighell

The paper identifies new pathogenic variants in the MMP20 gene associated with autosomal recessive amelogenesis imperfecta and explores their genetic origins across different populations.

9 citations

humanwhole-exome sequencing

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