Author

Carla Rosenberg

Universidade de São PauloORCID 0000-0003-3253-4448Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Cancer Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ana Cristina Victorino KrepischiiD· 3 shared Darine VillelaiD· 2 shared Fernanda Milanezi· 2 shared Michele Patricia MigliavaccaiD· 2 shared Patricia C. MazzonettoiD· 2 shared Rodrigo Guarischi‐SousaiD· 2 shared Silvia Souza da CostaiD· 2 shared Adriano Bonaldi· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ana Cristina Victorino KrepischiORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineAnnals of Human GeneticsPeer-reviewedOct 9, 2023

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa…·Carla Rosenberg

This study validates low-pass whole genome sequencing as a reliable and cost-effective method for detecting copy number variants in clinical settings.

17 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicineScientific ReportsPeer-reviewedSep 7, 2022

Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa…·Carla Rosenberg

This study analyzes chromosomal microarray data from 5,778 Brazilian patients with neurodevelopmental disorders and congenital anomalies to assess genetic bases and evaluate cost-effectiveness of variant analysis.

22 citations

humanexperimental assay

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Cancer BiologybioRxivPreprintFeb 22, 2019

Mutational burden of hepatoblastomas: a role for the CX3CL1/CX3CR1 chemokine signaling pathway

Talita Ferreira Marques Aguiar, Maria Prates Rivas, Silvia Costa…·Ana Cristina Victorino Krepischi

This study identifies CX3CL1/CX3CR1 pathway activation and a novel mutational signature in hepatoblastomas through exome sequencing and expression analysis.

DOI 10.1101/555466

humanwhole-exome sequencing

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