Author

Bruna Lucheze Freire

Universidade de São PauloORCID 0000-0003-2395-7828Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexander A.L. JorgeiD· 2 shared Antônio Marcondes LerárioiD· 2 shared Antonio Amorin· 1 shared Barbara Leitao BragaiD· 1 shared Berenice Bilharinho MendoncaiD· 1 shared Brendan PageiD· 1 shared Brian A. KelchiD· 1 shared Carlos Frederico Martins MenckiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Alexander A.L. JorgeORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

PCNA thermosensitivity underlies an Ataxia Telangiectasia-like disorder

Joe Magrino, Veridiana Munford, Davi Jardim Martins, Thaís Kataoka Homma, Brendan Page, Christl Gaubitz, Bruna Lucheze Freire, Antônio Marcondes Lerário, Juliana Brandstetter Vilar, Antonio Amorin, Emília Katiane Embiruçu de Araújo Leão, Fernando Kok, Carlos Frederico Martins Menck, Alexander A.L. Jorge, Brian A. Kelch

The paper identifies a second PCNA mutation, C148S, causing PARD, showing both variants have thermo-stability defects leading to reduced chromatin-bound PCNA and temperature-dependent phenotypes.

medRxiv · Oct 20, 2022 · PreprintGenetic & Genomic Medicine

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