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.
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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.
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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.
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Özge Güngör, Aslı Ece Solmaz, Emin Karaca, Taner Akalın, Elif Bolat et al.
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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.
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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.
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“This strategic partnership aligns with both companies’ missions to streamline genomic analysis by delivering cutting-edge solutions that accelerate discoveries and clinical decision-making. By leveraging Genomenon’s powerful datasets, Genomize users will gain access to deeper variant interpretation capabilities, driving innovation in personalized medicine.” Integration of Mastermind and Cancer Knowledgebase (CKB) Data To Drive Unprecedented Efficiency in…
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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.
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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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