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Author

T. Duzenli

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Case report Open access Oct 2026

Expanding the Genotypic and Phenotypic Spectrum of Li-Campeau Syndrome: A Homozygous Single-Exon Deletion in UBR7.

Biallelic pathogenic variants in UBR7, encoding ubiquitin protein ligase E3 component n-recognin 7, cause Li-Campeau syndrome (LICAS; OMIM #619189), which is characterized by developmental delay/intellectual disability, epilepsy, hypothyroidism, ptosis, genital anomalies, and cardiac anomalies. LICAS is an ultrarare di...

T. Duzenli, Damla Yıldız, G. Kayhan et al. · 0 citations
Open access Jul 2026

HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

HECTOR provides a faithful, transparent implementation of the ENIGMA VCEP v1.2 specifications for BRCA1 and BRCA2, enabling rapid, standardized, and reproducible application of gene-specific variant classification guidelines while reducing the burden of manual curation.

T. Duzenli, A. Babazade, O. Vural et al. · 0 citations

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