Author

Gabriela E. Oprea

ORCID 0000-0001-5467-5247Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abolfazl RadiD· 2 shared Bertrand IsidoriD· 2 shared Henry HouldeniD· 2 shared Huma Arshad CheemaiD· 2 shared Iman Sabri AbumansouriD· 2 shared Reza MaroofianiD· 2 shared Agnese LodaiD· 1 shared Aliaksandr SkrahiniD· 1 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Abolfazl RadORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 20, 2025

CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE

Thomas Besnard, Agnese Loda, Emma Kneuss…·Bertrand Isidor

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

1 citation

humanexperimental assay

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

12 citations

humanzebrafish

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Genetic & Genomic MedicineLife Science AlliancePeer-reviewedJan 12, 2023

Secondary findings in a large Pakistani cohort tested with whole genome sequencing

Aliaksandr Skrahin, Huma Arshad Cheema, Maqbool Hussain…·Volha Skrahina

The paper analyzes secondary findings in a Pakistani cohort using whole genome sequencing, identifying rates and types of actionable genetic variants.

9 citations

humanwhole-genome sequencing

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