Kina et al. (2024) used Genomize-SEQ to analyze whole-exome sequencing data from a high-risk endometriosis family, leveraging its Turkish-specific population cohort to filter and identify three novel candidate variants invisible to global databases alone.
Esra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas et al.
Çapan et al. (2024) used Genomize-SEQ to analyze whole-exome sequencing data in a child with severe drug-resistant epilepsy and developmental delay, identifying two novel compound heterozygous GOT2 mutations that explain the metabolic basis of the condition and enable targeted treatment decisions.
Aba et al. (2024) used Genomize-SEQ to identify a novel homozygous TFRC mutation in a Turkish CID patient, only the second known disease-causing variant in this gene, uncovering how defective cellular iron uptake broadly disrupts lymphocyte function and immune homeostasis.
Gözde Akın Kağızmanlı, Özgür Kırbıyık, Ayhan Abacı, Ece Böber, Uluç Yiş, Korcan Demir
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.
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
