Author

Edi Lúcia Sartorato

Universidade Estadual de Campinas (UNICAMP)ORCID 0000-0002-2000-0118Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:ATAC-seq· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andrés Soto-VarelaiD· 2 shared Giselle Bianco BortolettoiD· 2 shared Jose Antonio Lopez-EscameziD· 2 shared Alberto M. Parra‐PereziD· 1 shared Fernando Freitas GanançaiD· 1 shared Geovana Almeida CarneiroiD· 1 shared Helena Fabbri‐ScalletiD· 1 shared Inés Sánchez‐SelleroiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrés Soto-VarelaORCID

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2 papers

Recent·Most cited

A Rare Variant in TRIOBP Linked to Occupational Noise Exposure in Meniere Disease

Pablo Cruz‐Granados, Giselle Bianco Bortoletto, Yuzhong Zhang, Prathamesh T. Nadar‐Ponniah, Kiana Bagheri-Loftabad, Edi Lúcia Sartorato, Inés Sánchez‐Sellero, Andrés Soto-Varela, Jose Antonio Lopez-Escamez

The paper identifies a rare TRIOBP variant associated with Meniere disease in individuals with occupational noise exposure.

Genes & Diseases · Dec 19, 2025Peer-reviewedGenetic & Genomic Medicine

Replication of missense OTOG gene variants in a Brazilian cohort of Meniere's Disease

Giselle Bianco Bortoletto, Geovana Almeida Carneiro, Helena Fabbri‐Scallet, Alberto M. Parra‐Perez, Karen de Carvalho Lopes, Tatiana de Almeida Lima Sá Vieira, Fernando Freitas Ganança, Juan Carlos Amor‐Dorado, Andrés Soto-Varela, Jose Antonio Lopez-Escamez, Edi Lúcia Sartorato

The paper reports rare missense OTOG variants in a Brazilian MD patient, suggesting their potential role in MD pathophysiology through structural destabilization of Otogelin.

medRxiv · Apr 26, 2025 · PreprintGenetic & Genomic Medicine