Author

Alejandro Martinez-Aguayo

Pontificia Universidad Católica de ChileORCID 0000-0002-1961-8172Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

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 Luciani R. S. CarvalhoiD· 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

Antônio Marcondes LerárioORCID

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1 paper

Recent·Most cited

Developmental BiologybioRxivPreprintDec 10, 2018

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…·Sorahia Domenice

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

DOI 10.1101/477992

humanwhole-exome sequencing

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