Author

SA Rodriguez-Quiroga

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

C Vázquez-Dusefante· 1 shared D González-Morón· 1 shared H Amartino· 1 shared M Córdoba· 1 shared MA Kauffman· 1 shared N Medina· 1 shared PA Vega· 1 shared

Activity by Year

2016-2016 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

C Vázquez-Dusefante

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1 paper

Recent·Most cited

Whole Exome Sequencing in Neurogenetic Diagnostic Odysseys: An Argentinian Experience

M Córdoba, SA Rodriguez-Quiroga, PA Vega, H Amartino, C Vázquez-Dusefante, N Medina, D González-Morón, MA Kauffman

This paper reports on the diagnostic utility of whole exome sequencing in 40 neurogenetic cases from Argentina, achieving a 40% diagnostic yield and suggesting cost-effectiveness.

bioRxiv · Jun 23, 2016 · PreprintGenomics