Author

A. Sanrı

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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

Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians

Purpose: Limited physician knowledge of rare diseases is a well-established contributor to diagnostic delay. This crosssectional study aimed to assess and compare rare disease knowledge and healthcare infrastructure awareness among pediatric and family medicine resident physicians in Türkiye, and to identify specialty-...

A. Sanrı, B. Yazıcıoğlu, Emre Sanrı · Acibadem Universitesi Saglik... · 0 citations

Aug 2026

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

This nationwide study expands the genotype-phenotype spectrum of Sotos and Malan syndromes in Türkiye and supports improved diagnostic and clinical management strategies.

Ceren Yılmaz Uzman, Semra Gürsoy, F. Hazan et al. · Clinical Genetics · 0 citations