With Genomize-SEQ, Atik et al. (2024) analyzed 449 patients with suspected genetic disorders, showing that CNV detection added to exome sequencing uncovers pathogenic deletions and duplications standard tests miss, including the first reported AP4S1 deletion.
Baysal Bakır et al. (2024) used Genomize-SEQ to identify a rare genetic enzyme deficiency (prolidase deficiency) in a teenager who had been presenting for years with lupus-like symptoms, recurrent infections, and skin ulcers, highlighting how genomic sequencing can resolve complex diagnostic cases that mimic more common autoimmune diseases.
Erman et al. (2024) used Genomize-SEQ to analyze whole-exome sequencing data from 297 patients with inborn errors of immunity across 21 centers in Türkiye, establishing a molecular diagnosis in 41.1% of cases and enabling more precise treatment decisions and genetic counseling for affected families.
Bülbül et al. (2024) used Genomize-SEQ to analyze tumor sequencing data from 118 endometrial cancer patients, showing that targeted molecular testing can be applied more selectively, without missing clinically meaningful diagnoses, while a routinely overlooked microscopy feature (MELF invasion) independently predicts worse survival.
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.
