Çağrı Doğan

Mutational Spectrum of DMD Gene Variants and Cascade Screening Outcomes in the Central-Eastern Black Sea Region of Türkiye: A Single-Centre Retrospective Study

Multimodal genomic testing in prenatal diagnosis: incremental diagnostic contribution of chromosomal microarray and exome sequencing, real-world NIPT confirmation rates and pregnancy outcomes in 120 consecutive amniocenteses from northeastern Türkiye — a retrospective cohort study

Most evidence on chromosomal microarray analysis (CMA) and exome sequencing (ES) in prenatal diagnosis comes from high-volume centres. We evaluated the incremental diagnostic contribution of additional testing modalities, non-invasive prenatal testing (NIPT) confirmation rates and pregnancy outcomes at a regional centr...

Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

Background KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder caused by haploinsufficiency of ANKRD11 on chromosome 16q24.3. It is characterized by distinctive craniofacial features, macrodontia, short stature, skeletal anomalies, and neurodevelopmental impairment. Populations outside Western Europe and...

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.

DAAM2 gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye

The observed fivefold increase in heterozygosity of p.(Asn614ThrfsTer2) and the presence of homozygosity of p.(Asp165Glu) in cryptorchidism cases contribute to the literature and suggest that DAAM2 variants may play a potential role in the etiology of cryptorchidism.