Author

Nathália Lisboa Gomes

Universidade de São PauloORCID 0000-0002-1072-7903Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Antônio Marcondes LerárioiD· 2 shared Berenice Bilharinho MendoncaiD· 2 shared Elaine Maria Frade CostaiD· 2 shared Mirian Yumie NishiiD· 2 shared Sorahia DomeniceiD· 2 shared Alejandro Martinez-AguayoiD· 1 shared Alexander A.L. JorgeiD· 1 shared Barbara Leitao BragaiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetics

Antônio Marcondes LerárioORCID

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2 papers

Recent·Most cited

Low frequency of pathogenic allelic variants in the 46,XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias

Barbara Leitao Braga, Nathália Lisboa Gomes, Mirian Yumie Nishi, Bruna Lucheze Freire, Rafael Loch Batista, Antônio Marcondes Lerário, Mariana F.A. Funari, Elaine Maria Frade Costa, Sorahia Domenice, José Antônio Diniz Faria, Alexander A.L. Jorge, Berenice Bilharinho Mendonca

The paper investigates genetic variants in DSD-related genes in SGA children with hypospadias and finds no pathogenic variants in non-syndromic cases.

bioRxiv · Aug 28, 2019 · PreprintGenetics

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