Author

Regina Papazian

Hospital Posadas

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

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Developmental Biology· 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

Alejandro Martinez-AguayoiD· 1 shared Antônio Marcondes LerárioiD· 1 shared Berenice Bilharinho MendoncaiD· 1 shared Catherine E. KeeganiD· 1 shared Elaine Maria Frade CostaiD· 1 shared Eric J. N. VilainiD· 1 shared Filomena Marino CarvalhoiD· 1 shared Hayk BarseghyaniD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperDevelopmental Biology

Alejandro Martinez-AguayoORCID

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1 paper

Recent·Most cited

DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

Thatiana Evilen da Silva, Nathália Lisboa Gomes, Antônio Marcondes Lerário, Catherine E. Keegan, Mirian Yumie Nishi, Filomena Marino Carvalho, Eric J. N. Vilain, Hayk Barseghyan, Alejandro Martinez-Aguayo, María Verónica Forclaz, Regina Papazian, Luciani R. S. Carvalho, Elaine Maria Frade Costa, Berenice Bilharinho Mendonca, Sorahia Domenice

This study identifies DHX37 variants as a novel molecular cause of 46,XY gonadal dysgenesis, particularly in embryonic testicular regression syndrome.

bioRxiv · Dec 10, 2018 · PreprintDevelopmental Biology