Bayraktar et al. (2023) used Genomize-SEQ to process whole-exome sequencing data in a Turkish ALS patient, uncovering the first de novo SOD1-His47Arg mutation reported in Türkiye and only the sixth globally, highlighting the underrecognized role of de novo mutations in apparently sporadic ALS.
Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, and Zuhal Yapıcı
Seven Menevse et al. (2022) investigated the molecular etiology of non-CAH primary adrenal insufficiency in a multicenter Turkish pediatric cohort, identifying 8 novel variants across 11 genes and demonstrating that specific steroid hormone thresholds offer >95% diagnostic specificity for this condition.
Erdoğan et al. (2021) used Genomize-SEQ to analyze CFTR mutations in 316 CF patients from Central Anatolia. They genetically diagnosed 215 patients and uncovered 7 novel variants, expanding the regional mutation map to support more accurate CF screening in Turkey.
Tunca et al. (2020) used Genomize-SEQ to analyze whole-exome sequencing data from 1,200 Turkish ALS patients. They revealed that established ALS genes explain only 35% of familial cases, far fewer than in Western cohorts, highlighting the distinct genetic landscape of ALS in Turkey.
Türkdoğan et al. (2019) identified a pathogenic SCN4A myotonia mutation through Genomize-SEQ whole-exome variant analysis in an infant with epileptic seizures and apneas, proposing the mutation caused laryngospasm as a potential contributing mechanism for SUDEP
Hangül et al. (2019) applied Genomize-SEQ for CFTR variant analysis across 119,006 newborns in central Anatolia, establishing a CF incidence of 1 in 3,400 live births, the first Turkish estimate from national newborn screening.
Forouhideh et al. (2019) confirmed MYORG as the first known recessive gene for primary familial brain calcification (Fahr’s syndrome) in a consanguineous Turkish family, providing the first case reported outside China with detailed phenotyping.
Özdemir et al. (2019) used Genomize-SEQ to analyze MMR gene variants in 79 endometrial cancer patients under 50, confirming Lynch syndrome in 5% of cases and identifying three novel pathogenic mutations for the first time in Turkey.
Through Genomize-SEQ-powered NGS, Gumus (2018) mapped MEFV mutation frequencies in Sanliurfa following Syrian migration, finding broadly similar mutation spectra in Turkish and Syrian FMF patients and discovering a novel exon 4 variant (I423T) previously undetectable by standard methods.
