Author

Vehap Topçu

Acıbadem UniversityORCID 0000-0001-7224-5697Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

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

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

Mutual co-authors in cluster

Author profile →

3 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

𝕏 PostBluesky

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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 7, 2024

Expanding the mutational spectrum of GCK in Turkish pediatric population

Vehap Topçu, Gönül Büyükyılmaz, Keziban Toksoy Adıgüzel, Mehmet Boyraz

The paper identifies 28 distinct GCK variants in 43 Turkish pediatric patients with hyperglycemia, classifying 25 as likely pathogenic and 3 as variants of uncertain significance.

DOI 10.1101/2024.02.07.24302418

humanwhole-exome sequencing

𝕏 PostBluesky