Bozkurt Kekilli et al. (2026) used Genomize-SEQ to analyze whole exome sequencing data from 12 patients with unexplained liver disease, identifying the genetic cause in one-third of cases. This shows that broad genomic testing can uncover rare inherited conditions missed by standard clinical tests.
Paksoy et al. (2026) used multigene panel testing in 647 BRCA1/2-negative Turkish patients, with Genomize-SEQ supporting variant analysis. They identified clinically relevant non-BRCA variants in 16.2% of cases, led by CHEK2, ATM, and TP53.
Yavas et al. (2026) used Genomize-SEQ to annotate and filter whole-exome sequencing data from a 7-year-old girl with unexplained cognitive impairment and microcephaly, identifying a novel homozygous ATP9A variant that structurally destabilizes the protein and underlies her neurodevelopmental disorder.
Kose and Akalin (2026) used Genomize-SEQ to analyze NGS data from 52 pediatric IEI patients in a highly consanguineous Turkish population, establishing a molecular diagnosis in 63% of cases and directly influencing clinical management in 82% of diagnosed patients.
Kayhan et al. (2026) identified pathogenic variants in 24% of 75 Turkish children presenting with ASD through Genomize-SEQ whole-exome analysis. This revealed underlying genetic diagnoses including Rett, Dravet, and Angelman syndrome in patients who had previously tested negative on standard screens.
Genomize-SEQ CNV analysis in Durmaz et al. (2026) detected a TMC6 deletion that prompted optical genome mapping, revealing the first complex TMC6/TMC8 structural rearrangement in hereditary EV and four novel pathogenic variants across five Turkish families.
Tarhan et al. (2026) used Genomize-SEQ to identify two KIF1C variants in 3 siblings with spastic ataxia, determining a splice-site mutation as the cause of hereditary spastic paraplegia, with cerebellar symptoms preceding pyramidal signs.
Through Genomize-SEQ whole-exome variant analysis, Bolat et al. (2026) identified the 13th genetically confirmed Keipert syndrome case with a novel GPC4 missense variant, demonstrating that epilepsy without intellectual disability can accompany the condition.
