Author

Nika Schuermans

Ghent University HospitalORCID 0000-0001-7768-5739Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam JacksoniD· 1 shared Alberto Corvo· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Anastasios PapakonstantinouiD· 1 shared Andreas Traschütz· 1 shared Ange‐Line BrueliD· 1 shared Anna Esteve‐CodinaiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam JacksonORCID

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedOct 26, 2024

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez…·Emanuele Raineri

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

9 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintApr 15, 2021

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPAR signaling

Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet…·Bart Dermaut

The paper identifies PLAAT3 loss-of-function mutations in humans causing lipodystrophy and insulin resistance by impairing arachidonic acid-mediated PPAR signaling in adipose tissue.

1 citation

humanbulk RNA-seq

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