Anaemia-based screening for resistance to thyroid hormone alpha in children
Gözde Akın Kağızmanlı, Özgür Kırbıyık, Ayhan Abacı, Ece Böber, Uluç Yiş, Korcan Demir
Genomize in Scientific Articles
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Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype
Şahin et al. (2023) used Genomize-SEQ to analyze whole-exome sequencing data in a Turkish patient with unexplained muscle stiffness and cramps, identifying a homozygous ATP2A1 mutation and diagnosing Brody Disease, an ultra-rare myopathy with only 47 patients reported worldwide.
Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report
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.
Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, and Zuhal Yapıcı
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency
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.
The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey
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.
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
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.
Possible role of SCN4A skeletal muscle mutation in apnea during seizure
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