Author

Hanifenur Mancılar

Acıbadem UniversityORCID 0000-0003-2338-5436Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ahmet YeşilyurtiD· 2 shared Eyyüp ÜçtepeiD· 2 shared Fowzan Sami AlkurayaiD· 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 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

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2 papers

Recent·Most cited

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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