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.
Ransmayr et al. (2025) identified a novel homozygous LTBR variant via WES using Genomize-SEQ, establishing lymphotoxin beta receptor deficiency as the first inborn error of immunity caused by a stromal cell defect.
Türkdoğan et al. (2025) used Genomize-SEQ to identify the first autosomal recessive FGF14 variant expanding ATX-FGF14/SCA27A beyond its established autosomal dominant spectrum.
Helvacioglu et al. (2025) used Genomize-SEQ to identify a novel ACOX1 deletion in two cousins with PNALD, showing that adrenal insufficiency — previously associated mainly with whole-peroxisome assembly disorders — can also arise from a single broken peroxisomal enzyme.
Tzetis et al. (2025) identified a novel EHMT1 frameshift in a patient with Kleefstra syndrome with Genomize-SEQ, and showed that the affected protein domain predicts phenotypic severity — a finding with direct implications for clinical counseling.
