Author

O. Yaralı

2 papers indexed here

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Open access Oct 2026

Whole-exome sequencing in a Turkish autism spectrum disorder cohort: a retrospective study of molecular diagnostic yield in isolated and complex presentations

Whole-exome sequencing (WES) can identify molecular etiologies in autism spectrum disorder (ASD), particularly when ASD occurs with developmental delay/intellectual disability (DD/ID), epilepsy, dysmorphism, congenital anomalies, or neuroimaging abnormalities. Data on WES yield and candidate-gene findings in Turk...

Mehmet Burak Mutlu, A. Sanrı, O. Yaralı et al. · BMC Psychiatry · 0 citations

Open access Sep 2026

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye

Objective Inherited metabolic disorders (IMDs) are heterogeneous genetic diseases whose observed spectrum is influenced by population characteristics, newborn screening (NBS), and diagnostic pathways.This study aimed to characterize confirmed IMDs diagnosed through NBS and symptomatic referrals at a tertiary center in...

Sezai Arslan, Filiz Ekinci Uğan, O. Yaralı et al. · Molecular Genetics and Metab... · 0 citations