Author

Anita Nikoncuk

Erasmus MC

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:ChIP-seq· 2 Research Focus:differential expression· 2 Approach:deep learning· 1 Assay:DNA methylation· 1 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Elena PerenthaleriD· 3 shared Soheil YousefiiD· 3 shared Tahsin Stefan BarakatiD· 3 shared Eskeatnaf MulugetaiD· 2 shared Eva Medico SalsenchiD· 2 shared Herma C. van der LindeiD· 2 shared Kristina LankoiD· 2 shared Ruizhi DengiD· 2 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Elena PerenthalerORCID

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3 papers

Recent·Most cited

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Kristina Lanko, Rachel Schot, Michela Maresca, Eva Medico Salsench, Leslie E. Sanderson, Michael James Parker, Wilfred F. J. van IJcken, Joohyun Park, Marc Sturm, Tobias B. Haack, Gennady V. Roshchupkin, , Tahsin Stefan Barakat

The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.

medRxiv · Apr 13, 2024 · PreprintGenetic & Genomic Medicine

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Soheil Yousefi, Ruizhi Deng, Kristina Lanko, Eva Medico Salsench, Anita Nikoncuk, Herma C. van der Linde, Elena Perenthaler, Tjakko J. van Ham, Eskeatnaf Mulugeta, Tahsin Stefan Barakat

The paper identifies 39,709 differentially active enhancers in human fetal brain development linked to neurodevelopmental disorders and GWAS loci.

Genome Medicine · Oct 18, 2021Peer-reviewedGenomics

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, , Tahsin Stefan Barakat

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

Acta Neuropathologica · Dec 9, 2019Peer-reviewedGenetics