Author

Karina Miranda Santiago

AC Camargo HospitalORCID 0000-0002-6326-7795Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anthony Vladimir Campos SeguraiD· 1 shared Dirce Maria CarraroiD· 1 shared Giovana Tardin TorrezaniD· 1 shared Rafael Canfield BrianeseiD· 1 shared Sara Iolanda Oliveira da Silva· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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5 top collaborators · 10 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anthony Vladimir Campos SeguraORCID

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1 paper

Recent·Most cited

Misclassification of a frequent loss of function variant from PMS2CL pseudogene as a PMS2 variant in Brazilian patients

Anthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago, Rafael Canfield Brianese, Dirce Maria Carraro, Giovana Tardin Torrezan

The paper identifies a frequent PMS2CL pseudogene variant misclassified as a PMS2 variant in Brazilian patients, highlighting diagnostic challenges in genetic testing.

medRxiv · Mar 26, 2024 · PreprintGenetic & Genomic Medicine