Author

Özge Beyza Gündoğdu Öğütlü

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Sep 2026

De novo interstitial 3p21.31p14.2 duplication in a boy with esophageal atresia, talipes equinovarus, and global developmental delay: a case report

Background: Imbalances of chromosome 3p produce phenotypes that depend on the position and direction of the dosage change. The classic duplication 3p syndrome arises from distal gains, whereas the proximal interstitial region spanning 3p21.31 to 3p14.3 has been characterized almost exclusively through deletions. Inters...

Özge Beyza Gündoğdu Öğütlü, Kezban Karabağ · Molecular Syndromology · 0 citations

Review Open access Sep 2026

Benchmarking five large language models in medical genetics: a bilingual comparative evaluation using published and novel expert-authored questions

This study asked whether five contemporary large language models answer medical genetics multiple-choice questions with equivalent accuracy on published versus novel items and across English and Turkish, and sought to characterize the errors that persist. Five models (GPT-5.2, Gemini 3 Pro, Claude Sonnet 4.6, Grok 4,...

Özge Beyza Gündoğdu Öğütlü, Benjamin D. Solomon, Y. Çelik · Frontiers in Medicine · 0 citations