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

A boy with a de novo interstitial duplication of 3p21.31p14.31p14.2 is described, interpreted as likely pathogenic, which expands the spectrum of proximal 3p imbalances and illustrates the interpretive challenge of gene-rich copy-number gains lacking established triplosensitivity.

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

In an exploratory analysis, residual errors showed concentrated and concordant patterns, clustering in multistep Bayesian reasoning and evolving facts, suggesting that a second model may provide limited independent protection on such items.

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