Tahir ATİK

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı

Research areas: Health Sciences, Medicine, Internal Medicine Sciences, Child Health and Diseases, Medical Genetics, Pediatric Genetics and Teratology, Natural Sciences, Internal Diseases, Life Sciences, Endocrinology and Metabolic Diseases

Publications

• Targeted Analysis of Spliceosomal snRNA Genes in Unexplained Neurodevelopmental Disorders Identifies ReNU Syndrome and RNU4atac-opathy (2026)
• Analysis of fetal DNA in biological samples derived from maternal exhaled breath (2026)
• Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking (2026)
• CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis (2026)
• Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies (2026)
• Electroclinical predictors for drug-resistant epilepsy and outcome in tuberous sclerosis complex: a single center pediatric cohort (2026)
• Expanding the Neurodevelopmental Spectrum of Xia–Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort (2026)
• Intravenous diazepam application in a departmental convulsive status epilepticus protocol with CYP2C19 polymorphisms: a pediatric prospective cohort study (2026)
• The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications (2026)
• Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing ( NGS ) and Copy Number Variation ( CNV ) Analysis (2026)
• Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project (2026)
• Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients (2026)
• Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report (2025)
• Transition from assigned sex at birth to individual gender identity in cases of differences of sex development (2025)
• Detection of copy number variations by chromosomal microarray analysis in disorders of sex development of unexplained molecular etiology and association with clinical findings (2025)
• Molecular insights into genodermatoses: Genetic findings from 43 patients (2025)
• Genetic Risk of Axonal Neuropathy Following Infection (2025)
• From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement (2025)
• A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome (2025)
• Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder (2025)
• Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series (2025)
• Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience (2025)
• Next generation sequencing in children with isolated congenital cataract (2025)
• Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders (2025)
• Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals (2025)
• Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients (2025)
• Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience (2025)
• Dentofacial Findings and Management of two Pediatric Patients With Bainbridge‐Ropers Syndrome: A Case Report (2025)
• Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals (2025)
• Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series (2025)
• Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population (2025)
• Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder (2025)
• GNE Mutation-related Congenital Thrombocytopenia in 2 Siblings: Case Reports and Literature Review (2025)
• A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome (2025)
• Molecular insights into genodermatoses: Genetic findings from 43 patients (2025)
• Carboxypeptidase D deficiency causes hearing loss amenable to treatment (2025)
• Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations (2025)
• A cohort analysis of familial partial lipodystrophy from two Mediterranean countries (2024)
• “Predicting diabetic kidney disease in youth with type 1 diabetes: Insights from genetic risk assessment” (2024)
• Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation (2024)
• Clinical and Molecular Spectrum Along With Genotype-Phenotype Correlation of 25 Patients Diagnosed With 3M Syndrome: A Study from Turkey (2024)
• Genetic Risk of Axonal Neuropathy Following Infection (2024)
• Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis (2024)
• The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era (2024)
• Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta (2024)
• O-09 A rare cause of acute pancreatitis: Werner Syndrome (2024)
• Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2 (2024)
• Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith– McCort dysplasia type 2 (2024)
• Scientific Business Abstracts (2024)
• Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
• From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement (2024)
• The Correlation between Force/Power Related Gene Polymorphisms and Explosive Power in Elite Turkish Female Volleyball Players (2024)
• The Impact of Genetic Variants of Angiotensin-converting enzymes (ACE1, ACE2) On the Severity of COVID-19 Disease (2024)
• Association between the ARMS2 rs10490924 risk genotype and dry-age related macular degeneration patients with and without reticular pseudodrusen in a Turkish population: findings from a study conducted at a tertiary clinic (2024)
• Clinical and molecular spectrum along with genotype–phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey (2024)
• Clinical features of generalized lipodystrophy in Turkey: A cohort analysis (2023)
• Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy (2023)
• Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene (2023)
• Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child (2023)
• Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene (2023)
• A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis (2023)
• Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss (2023)
• Roberts syndrome with bilateral corneal opacity: A case report (2022)
• Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder (2022)
• LSM1 is the new candidate gene for neurodevelopmental disorder (2022)
• C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia (2022)
• Effect of CTLA-4 and TNF-α Gene Polymorphisms on Inhibitor Development in a Turkish Cohort of Severe Hemophilia A Cases with Intron 22 Inversion Mutation: An Analytical Study (2022)
• ULUSAL HEMOFİLİ TANI VE TEDAVİ KILAVUZU-2021 (2021)
• MOLEKÜLER TANIDA ZORLUK YAŞANAN CİNSİYET GELİŞİM BOZUKLUĞU OLGUSU: NR5A1 GENİNDE YENİ VARYANT (2021)
• Hemofili Tanı ve Tedavi Kılavuzu (2021)
• A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
• A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
• The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis (2021)
• Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project (2021)
• Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations (2021)
• The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum (2021)
• A case of gender developmental disorder with difficulty in molecular diagnosis: new variant in NR5A1 gene (2021)
• Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations (2021)
• A Novel Molecular Indicator for Inhibitor Development in Haemophilia A (2021)
• The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis (2021)
• Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project (2021)
• Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations (2021)
• Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants (2021)
• Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations (2021)
• Aromatase deficiency in two siblings with 46, XX karyotype raised as different genders: A novel mutation (p.R115X) in CYP19A1 gene (2020)
• Nonsendromik İşitme Kayıplı Olgularda GJB2 Mutasyon Dağılımı (2020)
• SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey (2020)
• Clinical and molecular aspects of PTEN mutations in 10 pediatric patients (2020)
• Meme ve jinekolojik kanser tanılı hastalarda travma sonrası büyüme gelişimi ile Serotonin transporter gen promotor bölge polimorfizmi ve psikososyal faktörler arasındaki ilişkinin değerlendirilmesi (2020)
• A nonsense mutation in the first exon of CHD8 causes a multi-organ disease phenotype: Is it a novel syndrome or a detection of an additional gene resulting in CHARGE syndrome (2020)
• OTOZOMAL RESESİF DİSTROFİK EPİDERMOLİZİS BÜLLOZA: COL7A1 GENİNDE DELESYON SAPTANAN NADİR BİR OLGU (2020)
• TYR GENİNDE DELESYON SAPTANAN OKÜLOKÜTANÖZ ALBİNİZMLİ BİR OLGU (2020)
• NF1 TÜM GEN DELESYONU SAPTANAN DİSMORFİK BİR NÖROFİBROMATOZİS OLGUSU (2020)
• S3-HEMOFİLİ A VE B TANILI HASTALARIN ANNE, TEYZE VE KIZ KARDEŞLERİNDEHEMOFİLİ TAŞIYICILIĞININ ARAŞTIRILMASI VE TAŞIYICI BİREYLERDE XİNAKTİVASYON ÇALIŞMASI (2020)
• Hemofili B Moleküler Analizinde Türkiye Deneyimi: F9 Gen Mutasyon Spektrumu ve Genotip-Fenotip İlişkisi (2020)
• VON WİLLEBRAND HASTALIĞI’NDA VWF GENİ MUTASYON SPEKTRUMU. (2020)
• VON WİLLEBRAND HASTALIĞI’NDA VWF GENİ MUTASYON SPEKTRUMU (2020)
• Factor 8 Gene Mutation Spectrum of 270 Patients with Haemophilia A: Identification of 36 Novel Mutations (2020)
• Type 2B Von Willebrand Disease Mimicking Autoimmune Thrombocytopenia in the Neonatal Period (2020)
• A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2020)

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