Author

Larissa Brussa Reis

Hospital de Clínicas de Porto AlegreORCID 0000-0002-9833-9058Unclaimed 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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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:multiome· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Arthur Bandeira de Mello GarciaiD· 1 shared Clévia RossetiD· 1 shared Cristina Brinckmann Oliveira Netto· 1 shared Lucas Fernandes Jatai· 1 shared Maria Clara de Freitas Pinho· 1 shared Patrícia Ashton‐ProllaiD· 1 shared Patrícia Santos da SilvaiD· 1 shared Taís da Silveira Fischer· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Arthur Bandeira de Mello GarciaORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

TSC1 mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing results

Arthur Bandeira de Mello Garcia, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Lucas Fernandes Jatai, Patrícia Santos da Silva, Tiago Finger Andreis, Larissa Brussa Reis, Cristina Brinckmann Oliveira Netto, Patrícia Ashton‐Prolla, Clévia Rosset

This study identifies mRNA processing errors in TSC patients with negative or inconclusive genetic tests using cDNA analysis, reclassifying a variant of uncertain significance as pathogenic.

medRxiv · Jan 30, 2025 · PreprintGenetic & Genomic Medicine