Author

Karen de Carvalho Lopes

Universidade Federal de São PauloORCID 0000-0002-8888-0844Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

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

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberto M. Parra‐PerezORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2025

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

Giselle Bianco Bortoletto, Geovana Almeida Carneiro, Helena Fabbri‐Scallet…·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.

DOI 10.1101/2025.04.26.25326273

humanwhole-exome sequencing

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