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Author

M. Alay

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Review Open access Oct 2026

HBOCpred: An Ensemble Framework for Prioritisation of Germline Missense Variants in Hereditary Breast and Ovarian Cancer

HBOCpred was developed to support research prioritisation of unresolved germline missense variants in a defined 17-gene study panel. Four calibrated learners provide vote states (V0–V4) and a continuous modified adaptive classifier score (SMAC). The same directional descriptors apply to labelled and unresolved records:...

M. Alay, H. Erdem · 0 citations
Review Open access Sep 2026

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.

This series consolidates Lys198 as a recurrent hotspot across ethnically diverse cohorts, extends the structural-variant spectrum with the first Turkish CSNK2A1 contiguous-gene deletion, and supports adult-onset metabolic-reproductive complications as under-recognized OCNDS features.

Çağrı Doğan, A. Gezdirici, Hatice Özışık et al. · 0 citations
Review Sep 2026

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.

Clinical findings in patients with HCH were milder in individuals with serine substitution than in those with lysine substitution, consistent with this, and underscores genetic and clinical heterogeneity of HCH.

Abdülkerim Kolkıran, M. A. Kulalı, Tuğba Daşar et al. · 0 citations

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