Author

Y. Bahap

2 papers indexed here

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Review Open access Oct 2026

Expanding the clinical spectrum of recessive CRX-associated retinal disease: an early-onset retinal dystrophy phenotype

The clinical spectrum of recessive CRX -associated retinal disease is expanded by identifying an EORD phenotype caused by a homozygous CRX variant, which underscores the functional importance of the homeobox domain and highlight the need for further studies to clarify genotype–phenotype correlations.

M. F. Mulayim, Burak Acar, Y. Bahap et al. · Orphanet Journal of Rare Dis... · 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. · medRxiv · 0 citations