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Author

H. Gumus

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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. · 0 citations
Case report Sep 2026

Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation

The functional consequences of a TBK1-variant bearing a truncation in exon 4 and 5 in a patient with poly arthritis resembling juvenile idiopathic arthritis and necrotizing encephalitis are characterized and may provide insight into the management of immune dysregulation in affected patients.

Büşra Şeniz Demir, S. Çiçek, M. Houran et al. · 0 citations

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