Makaleler

• Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature (Epilepsia Open. 2026)
• MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy (The American Journal of Human Genetics, 2026)
• Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency (The American Journal of Human Genetics, 2025)
• Reanalysis of whole-exome sequencing data of an infant with suspected diagnosis of Jeune syndrome revealed a likely pathogenic variant in GRK2: A newly associated gene for Jeune syndrome phenotype (Molecular Syndromology, 2024)
• Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants (Gazi Medical Journal, 2024)
• Comparison of Sanger sequencing and next generation sequencing methods for investigation of JAK2 Exon 12 mutations in follow-up of patients with chronic myeloproliferative disease and JAK2 V617F non-mutation (Communications Faculty of Sciences University of Ankara Series C Biology, 2024)
• A patient with Parkinson’s disease carrying a rare variant in the kinase domain of LRRK2 (Annals of Movement Disorders, 2023)
• A rare contiguous gene deletion leading to trichothiodystrophy type 4 and glutaric aciduria type 3 (Molecular Syndromology, 2023)
• Impact of inflammation-related genes on covid-19: prospective study at turkish cohort (The Tohoku Journal of Experimental Medicine, 2023)
• A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene (Annals of Movement Disorders, 2023)
• The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum (Annals of Human Genetics, 2022)
• Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer (Asia‐Pacific Journal of Clinical Oncology, 2022)
• Evaluation of Oxidant/Antioxidant System, IL-6 and IL-10 Parameters and SOD-Enzyme Activity in Pregnancy with Down Syndrome in Amnion Fluid Analysis (Gazi Medical Journal, 2022)
• High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population (The American Journal of Human Genetics, 2021)
• Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family (Journal of Pediatric Endocrinology and Metabolism, 2021)
• Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation (Neurology Asia, 2021)