Author

Ahmet Yeşilyurt

Acıbadem UniversityORCID 0000-0003-1289-7866Unclaimed 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· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Eyyüp ÜçtepeiD· 3 shared Fowzan Sami AlkurayaiD· 2 shared Hanifenur MancılariD· 2 shared Henry HouldeniD· 2 shared Reza MaroofianiD· 2 shared Vehap TopçuiD· 2 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Eyyüp ÜçtepeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewedSep 16, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

Wallid Deb, Thomas Besnard, Florence Desprez…·Sébastien Küry

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

DOI 10.1038/s41380-026-03877-w

humanbulk RNA-seq

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJan 21, 2026

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

Heba Morsy, Hyeonho Kim, Gyubin Jang…·Reza Maroofian

This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.

1 citation

humanstatistical model

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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