Author

Mariona Terradas

Institut d'Investigació Biomédica de BellvitgeORCID 0000-0001-7813-1172Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Laura ValleiD· 2 shared Alexey S. KondrashoviD· 1 shared Ana Beatriz Sánchez‐HerasiD· 1 shared Andrew Green· 1 shared Annelore Van Der KeleniD· 1 shared Ashwin Ramdien· 1 shared Carli M. Tops· 1 shared Claire PallesiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Laura ValleORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedJul 18, 2025

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

Noah C. Helderman, Ting Yang, Claire Palles…·Margot Julia Wyrwoll

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

3 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintJul 20, 2022

Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells

Maria A. Andrianova, Vladimir B. Seplyarskiy, Mariona Terradas…·Laura Valle

The paper investigates the effect of an inherited POLD1 variant on mutation rates in germline and somatic cells, showing a recessive effect on proofreading deficiency in cancer.

6 citations

humanDNA methylation

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