Tekin Orgun et al. (2025) used Genomize-SEQ to identify a rare ATP1A2 gene mutation in an infant with life-threatening, treatment-resistant seizures, showing that memantine — a drug that blocks overactivated brain receptors — stopped the seizures entirely when all standard therapies had failed.
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Through Genomize-SEQ exome analysis, Sharif et al. (2025) found genetic mutations in 42% of men with unexplained infertility, revealing that sperm cell division gene mutations reliably predict failed surgical sperm retrieval — sparing patients from unnecessary procedures.
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Yavas et al. (2025) used Genomize-SEQ to analyze whole-exome sequencing data from 50 Turkish patients with inherited eye diseases, identifying the genetic cause in 58% of cases — including six previously unknown variants — and pinpointing a likely common founder mutation in the ABCA4 gene within the Turkish population.
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Erbilgin et al. (2026) used Genomize-SEQ to analyze targeted sequencing data from pediatric leukemia patients, finding that a key gene deletion (IKZF1) became more frequent at relapse — pointing to its role in treatment resistance rather than early disease prediction.
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Yılmaz Uzman et al. (2025) used Genomize-SEQ to analyze targeted gene panel data from 149 children with suspected RASopathies, identifying disease-causing variants in over a quarter of patients and uncovering three new genetic variants — including rare clinical features never before described in these conditions.
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Tezen et al. (2024) used Genomize-SEQ to analyze whole exome sequencing data from a multi-generational family, discovering that two rare nerve disorders, a neuromuscular junction defect and a hereditary neuropathy, were caused by separate gene mutations co-existing in the same family due to a history of consanguineous marriages.
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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.
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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.
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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.
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Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez et al.
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