Author

Berenice Bilharinho Mendonca

Universidade de São PauloORCID 0000-0003-1762-1084Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 2 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Luciani R. S. CarvalhoiD· 3 shared Alexander A.L. JorgeiD· 2 shared Antônio Marcondes LerárioiD· 2 shared Elaine Maria Frade CostaiD· 2 shared Mirian Yumie NishiiD· 2 shared Nathália Lisboa GomesiD· 2 shared Sorahia DomeniceiD· 2 shared Alejandro Martinez-AguayoiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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3 shared papersDevelopmental Biology

Luciani R. S. CarvalhoORCID

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Author profile →

4 papers

Recent·Most cited

Developmental BiologybioRxivPreprintFeb 26, 2024

Temporal Analysis of Pituitary Transcriptional Dynamics in Mice Models of Hypopituitarism During Postnatal Development

Juliana Moreira Marques, Cláudia Veiga Chang, Nicholas Silvestre de Souza Trigueiro…·Luciani R. S. Carvalho

The paper analyzes pituitary transcriptional dynamics in mouse models of congenital hypopituitarism across developmental stages, revealing distinct gene expression patterns and functional impairments in Prop1 mutants.

DOI 10.1101/2024.02.26.582133

mousebulk RNA-seq

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 15, 2021

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando…·Sally Ann Camper

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

50 citationstop 2%

humanDNA methylation

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GeneticsbioRxivPreprintAug 28, 2019

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…·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.

DOI 10.1101/748277

humanDNA methylation

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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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