Author

Helena Cramer Veiga Rey

Instituto Nacional de CardiologiaORCID 0000-0003-3920-5815Unclaimed 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

Anna Paula Arpini BotelhoiD· 1 shared Daniele N. Aprijo· 1 shared Glauber Monteiro DiasiD· 1 shared Júlia Passarelli Pereira· 1 shared Juliana R. FerreiraiD· 1 shared Marcelo M. Melo· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anna Paula Arpini BotelhoORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 22, 2023

Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation Sequencing

Juliana R. Ferreira, Júlia Passarelli Pereira, Anna Paula Arpini Botelho…·Glauber Monteiro Dias

This study uses targeted next-generation sequencing to identify genetic variants in a Brazilian cohort with thoracic aortic diseases, finding pathogenic variants in key genes and highlighting the diagnostic yield for syndromic cases.

DOI 10.1101/2023.12.22.23300140

humanwhole-exome sequencing

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