Author

Isabel Tapia‐Páez

Karolinska InstitutetORCID 0000-0002-0535-4233Unclaimed 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· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jesper EisfeldtiD· 2 shared Anca DragomiriD· 1 shared Andrea BiederiD· 1 shared Anna LindstrandiD· 1 shared Björn GuðbjörnssoniD· 1 shared Elísabet EinarsdóttiriD· 1 shared Fulya TaylaniD· 1 shared Hans MatssoniD· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Jesper EisfeldtORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans

Sailan Wang, Pernilla Nikamo, Leena Laasonen, Björn Guðbjörnsson, L. Ejstrup, Lars Iversen, Ulla R C Lindqvist, Jessica J. Alm, Jesper Eisfeldt, Xiaowei Zheng, Sergiu‐Bogdan Catrina, Fulya Taylan, Raquel Vaz, Mona Ståhle, Isabel Tapia‐Páez

The paper identifies rare NOX4 variants in psoriatic arthritis mutilans patients that increase ROS levels, linking them to disease pathogenesis and suggesting therapeutic targets.

bioRxiv · Jun 6, 2023 · PreprintGenetics

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

Andrea Bieder, Elísabet Einarsdóttir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie‐Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia‐Páez

The paper identifies rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia, suggesting a potential link between dynein dysfunction and these conditions.

BMC Medical Genetics · May 1, 2020Peer-reviewedGenetics