Esra IŞIK
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Tıbbi Genetik, Pediatrik Genetik ve Teratoloji, Temel Bilimler, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Nöroloji
Yayınlar
- 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)
- Intravenous diazepam application in a departmental convulsive status epilepticus protocol with CYP2C19 polymorphisms: a pediatric prospective cohort study (2026)
- Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2 -related disorders (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)
- 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)
- Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients (2026)
- Ochoa Syndrome Associated with a Novel HPSE2 Deletion: A Case Report (2026)
- 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)
- Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients (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 Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey (2025)
- Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients (2025)
- From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement (2025)
- Molecular insights into genodermatoses: Genetic findings from 43 patients (2025)
- Genetic Risk of Axonal Neuropathy Following Infection (2025)
- A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome (2025)
- Molecular insights into genodermatoses: Genetic findings from 43 patients (2025)
- Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience (2025)
- Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals (2025)
- Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey (2025)
- Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series (2025)
- Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder (2025)
- Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation (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)
- Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
- Genetic Risk of Axonal Neuropathy Following Infection (2024)
- A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature (2024)
- Scientific Business Abstracts (2024)
- Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
- The Correlation between Force/Power Related Gene Polymorphisms and Explosive Power in Elite Turkish Female Volleyball Players (2024)
- From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement (2024)
- A novel candidate gene for neurodevelopmental disorders: JKAMP (2023)
- The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review (2023)
- ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control? (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)
- Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child (2023)
- 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)
- Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity 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)
- Moleküler genetik tanı testleri (2022)
- Giriş (2021)
- The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis (2021)
- A Novel Molecular Indicator for Inhibitor Development in Haemophilia A (2021)
- Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations (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)
- The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum (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)
- 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)
- TYR GENİNDE DELESYON SAPTANAN OKÜLOKÜTANÖZ ALBİNİZMLİ BİR OLGU (2020)
- NF1 TÜM GEN DELESYONU SAPTANAN DİSMORFİK BİR NÖROFİBROMATOZİS OLGUSU (2020)
- Clinical and molecular aspects of PTEN mutations in 10 pediatric patients (2020)
- OTOZOMAL RESESİF DİSTROFİK EPİDERMOLİZİS BÜLLOZA: COL7A1 GENİNDE DELESYON SAPTANAN NADİR BİR OLGU (2020)
- <i>Factor</i> <i>8</i> Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations (2020)
- Nonsendromik İşitme Kayıplı Olgularda GJB2 Mutasyon Dağılımı (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)
- Turkey Experience in Molecular Analysis of Hemophilia B: F9 Gene Mutation Spectrum and Genotype-Phenotype Correlation (2020)
- Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome (2020)
- Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings (2020)
- The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies (2020)
- VON WİLLEBRAND HASTALIĞI’NDA VWF GENİ MUTASYON SPEKTRUMU (2020)
- A rare cause of syndromic short stature: 3M syndrome in three families. (2020)
- VON WİLLEBRAND HASTALIĞI’NDA VWF GENİ MUTASYON SPEKTRUMU. (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)
- Atipik Teratoid Rabdoid Tümörlü Olgularda Demografik,Klinik, Patolojik Özelliklerin ve HSNF5 (SMARCB1)/INI1Gen Mutasyonlarının Araştırılması (2020)
- Clinical and molecular aspects of PTEN mutations in 10 pediatric patients (2020)
- A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia (2020)
- Persistan Müller Kanal Sendromu: AMH ve AMHR2 Mutasyon Spektrumu (2019)
- PTEN Hamartom Sendromunun Klinik ve Moleküler Özellikleri (2019)
- Investigation of FBN1 gene mutations in clinically diagnosed Marfan's syndrome patients (2019)
- PgmNr 1155: A single center experience ın Turkey in the molecular diagnosis of hemophilia B. (2019)
- Trombosit ve Koagülasyon Sistemi Hastalıkları ve Moleküler Temelleri (2019)
- EGE ÜNİVERSİTESİ TIBBİ GENETİK BÖLÜMÜ’NDE TANISI KONULAN HİPOKONDROPLAZİ OLGULARININ FGRF3 MUTASYON SPEKTRUMU (2019)
- NOONAN SENDROMLU OLGULARDA SOS1 GENİ MUTASYON SPEKTRUMU (2019)
- Primer Mitokondriyal Sitopati Tanılı Hastalarımızn Klinik ve Moleküler GenetiK Özelliklerinin Değerlendirilmesi (2019)
- AVPR2 gen defektine bağlı bir nefrojenik diabetes olgusu: X’e bağlı kalıtımda fenotip değişkenliği (2019)
- Melis Köse, Taha Reşit Özdemir, Esra Işık, Ayça Aykut, Asude Durmaz, Tahir Atik, Robert William Taylor, Garry Brown, Hüseyin Onay, Ferda Özkınay Primer Mitokondriyal Sitopati Tanılı Hastalarımızn Klinik ve Moleküler Genetik Özelliklerinin Değerlendirilmesi, (2019)
- Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases (2019)
- Kombine Hipofizer Yetmezlik Tanili 2 Olgu Ve Lhx4 Geni Ekspresyon Değişkenliği (2019)
- A single center experience in Turkey in the molecular diagnosis of Hemophilia B (2019)
- Tyrosinemia Type III: Outcome in Two Cases (2019)