Author

H. Bolat

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Open access Sep 2026

Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

Background KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder caused by haploinsufficiency of ANKRD11 on chromosome 16q24.3. It is characterized by distinctive craniofacial features, macrodontia, short stature, skeletal anomalies, and neurodevelopmental impairment. Populations outside Western Europe and...

Irem Kalay, Tahir Atik, Elif Yilmaz Gulec et al. · Balkan Medical Journal · 0 citations

Review Open access Jan 2026

Rare Variants in Purinergic P2X Receptor Genes (P2RX4, P2RX5, P2RX7) in Individuals With Autism Spectrum Disorder: An Exploratory Study

Preliminary, exploratory observations suggesting that rare P2RX variants may represent biologically plausible candidates relevant to ASD‐related pathways are provided; however, no conclusions regarding disease association or causality can be drawn.

Gül Ünsel-Bolat, H. Bolat · Human Mutation · 0 citations

Jul 2026

Relationship between BDNF rs6265 (VAL66MET) polymorphism and serum BDNF LEVELS in anxiety disorders

It is demonstrated that decreased serum BDNF levels are associated with the presence and symptom severity of anxiety disorders, and the Val66Met polymorphism does not appear to be a primary determinant of serum BDNF levels in this population, suggesting that other genetic or environmental factors may be involved.

Dicle Yilmaz Uyanik, Merve Şahin Can, O. Baykan et al. · Molecular Biology Reports · 0 citations