Author

Esperanza Beatriz Berensztein

Garrahan HospitalORCID 0000-0002-1997-6180Unclaimed 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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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alicia BelgoroskyiD· 1 shared Carmen Malosetti· 1 shared Deepak ChatterjeeiD· 1 shared Elisa VaianiiD· 1 shared Joseph D. RaccaiD· 1 shared Marcela BaileziD· 1 shared Maria Laura Galluzzo-Mutti· 1 shared María Sol TouzóniD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperDevelopmental Biology

Alicia BelgoroskyORCID

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1 paper

Recent·Most cited

Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY

Elisa Vaiani, Yen‐Shan Chen, Pablo Ramírez, Joseph D. Racca, María Sonia Baquedano, Carmen Malosetti, María Sol Touzón, Roxana Marcela Marino, Mariana Costanzo, Marcela Bailez, Esperanza Beatriz Berensztein, Maria Laura Galluzzo-Mutti, Deepak Chatterjee, Yanwu Yang, Alicia Belgorosky, Michael Aaron Weiss

The paper describes a novel SRY mutation causing 46, XY sex reversal, showing its partial function and phenotypic effects in a family.

bioRxiv · May 5, 2021 · PreprintDevelopmental Biology