Author

Soheil Yousefi

Erasmus MCORCID 0000-0001-6315-2544Unclaimed ORCID profile · follow to get notified of new preprints

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

Anita Nikoncuk· 3 shared Elena PerenthaleriD· 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

Anita Nikoncuk

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 13, 2024

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…·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.

2 citations

humanChIP-seq

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GenomicsGenome MedicinePeer-reviewedOct 18, 2021

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

Soheil Yousefi, Ruizhi Deng, Kristina Lanko…·Tahsin Stefan Barakat

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

29 citations

humanChIP-seq

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GeneticsActa NeuropathologicaPeer-reviewedDec 9, 2019

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…·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.

70 citationstop 3%

humanzebrafish

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