Author

Irma E. Järvelä

University of HelsinkiORCID 0000-0002-1770-6187Unclaimed 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 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Research Focus:cell type annotation· 1 Organism:Drosophila· 1

Frequent Co-Authors

Haley McConkey· 2 shared Isabelle SchrauweniD· 2 shared James R. LupskiiD· 2 shared Jennifer KerkhofiD· 2 shared Rolph PfundtiD· 2 shared Sadegheh HaghshenasiD· 2 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 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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2 shared papersGenetic & Genomic Medicine

Haley McConkey

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedFeb 26, 2024

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme…·Dorothea Wand

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

45 citationstop 1%

humanDrosophila

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GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

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GenomicsbioRxivPreprintApr 17, 2019

Music-listening regulates human microRNA transcriptome

Preethy Sasidharan Nair, Pirre Raijas, Minna Ahvenainen…·Irma E. Järvelä

This study shows that music-listening affects microRNA expression in individuals with high musical aptitude, with specific microRNAs linked to neuroprotection and cognitive functions.

6 citations

humanDNA methylation

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