Mammadova et al. (2026) used Genomize-SEQ trio whole-exome analysis to identify a novel de novo ZMYM2 frameshift variant causing NECRC syndrome without the usual renal or cardiac anomalies, expanding the disorder's spectrum to include predominant ADHD and motor stereotypies.
Peker et al. (2026) used Genomize-SEQ trio exome analysis to detect a novel intronic AMPD2 variant in a Turkish toddler, enabling a confirmed diagnosis of pontocerebellar hypoplasia type 9 after follow-up functional studies proved the variant disrupts splicing.
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.
