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.
Gürsoy et al. (2025) identified a genetic cause in 29% of children with unexplained intellectual disability through Genomize-SEQ targeted panel analysis — including three novel variants, one linked to a brain malformation never before associated with that gene.
Through Genomize-SEQ variant analysis, Bozkaya-Yilmaz et al. (2025) showed that CACNA1A mutations in 31 children can cause a wide range of neurological symptoms — from epilepsy and developmental delay to movement problems — even within the same family.
