Scientific work

Prof. Dr. Taha Reşid Özdemir

82 publications. The source of the information is stated next to each publication.

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  1. Clinical and Genetic Heterogeneity of Congenital Myasthenic Syndromes: Insights From a Large Cohort

    Neurology and Clinical Neuroscience, 2026

    DOI 10.1111/ncn3.70057 Open-access full textSource: ORCID

  2. Symptom-based classification of 16p11.2 copy number variations underlying the multidimensional autism spectrum disorder phenotype using machine learning methods

    Research in Autism, 2026

    DOI 10.1016/j.reia.2026.202865 Open-access full textSource: OpenAlex

  3. Is Unidentified Cytopenia Truly Unidentified? Or Are We Overlooking Clonality?

    Medicina, 2026

    DOI 10.3390/medicina62050868 PMID 42195121 Open-access full textSource: OpenAlex

  4. MCPH1 and DNA Damage Response Pathway Genes as Candidate Susceptibility Loci in Hereditary Breast Cancer

    Diagnostics, 2026

    DOI 10.3390/diagnostics16182967 PMID 42793752 Open-access full textSource: ORCID

  5. Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience

    Annals of Human Genetics, 2026

    DOI 10.1111/ahg.70028 PMID 41084934 Source: ORCID

  6. Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population

    Familial Cancer, 2026

    DOI 10.1007/s10689-026-00577-w PMID 42258060 1 citation (Europe PMC) Source: ORCID

  7. Prevalence and impact of germline mutations in pancreatic ductal adenocarcinoma

    Tumori Journal, 2026

    DOI 10.1177/03008916251410475 PMID 41568754 Source: ORCID

  8. Dental Anomalies in a Pediatric Patient with 16p13.11 Recurrent Microdeletion Syndrome: A Case Report

    Journal of Dr Behcet Uz Children s Hospital, 2026

    DOI 10.4274/jbuch.galenos.2025.88234 Open-access full textSource: OpenAlex

  9. SCN1A DIŞINDAKİ SODYUM KANALOPATİLERİ: ÇOK MERKEZLİ ÇALIŞMA

    Kocaeli Üniversitesi - AVESİS, 2025

    Open-access full textSource: OpenAlex

  10. FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI

    Journal of Clinical Research in Pediatric Endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2025.2025-8-4 PMID 41243835 Open-access full textSource: OpenAlex

  11. Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

    Annals of Indian Academy of Neurology, 2025

    DOI 10.4103/aian.aian_1068_24 PMID 40445718 Open-access full textSource: OpenAlex

  12. Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort

    Genes, 2025

    DOI 10.3390/genes17010023 PMID 41595443 Open-access full textSource: ORCID

  13. Germline ATM Variation in a Young Patient Diagnosed with Breast Cancer Presenting with Vaginal Neuroendocrine Carcinoma

    Journal of Oncological Sciences, 2025

    DOI 10.37047/jos.galenos.2024.2024.105033 Open-access full textSource: OpenAlex

  14. Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes

    Archives of Gynecology and Obstetrics, 2024

    DOI 10.1007/s00404-024-07443-z PMID 38441603 3 citations (Europe PMC) Source: ORCID

  15. EP18.39: Novel pathogenic variant in thyroid hormone receptor interactor 11 gene associated with skeletal dysplasia

    Ultrasound in Obstetrics and Gynecology, 2024

    DOI 10.1002/uog.28774 PMID 39249056 Open-access full textSource: OpenAlex

  16. JAKCalc: A machine-learning approach to rationalized JAK2 testing in patients with elevated hemoglobin levels

    Medicine, 2024

    DOI 10.1097/md.0000000000037751 PMID 38579024 4 citations (Europe PMC) Open-access full textSource: ORCID

  17. Prognostic and predictive role of liquid biopsy in lung cancer patients

    Frontiers in Oncology, 2024

    DOI 10.3389/fonc.2023.1275525 PMID 38304031 3 citations (Europe PMC) Open-access full textSource: ORCID

  18. The Histopathological Findings of High-grade Serous Ovarian Carcinomas in Patients with BRCA Germline Mutations, Single Center Experience

    The Anatolian Journal of General Medical Research, 2024

    DOI 10.4274/anatoljmed.2023.92609 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  19. 1195 Non-gestational uterine choriocarcinoma in postmenopausal women

    International Journal of Gynecological Cancer, 2024

    DOI 10.1136/ijgc-2024-esgo.1023 Open-access full textSource: OpenAlex

  20. Genetic Overview of Esophageal Cancer

    Springer eBooks, 2024

    DOI 10.1007/978-3-031-47024-0_6 Source: OpenAlex

  21. The Case Report of Hemoglobin Hamadan: HBB:c.169G>C (B 56 (D7) Gly-Arg) in İstanbul

    Turkiye Klinikleri Journal of Case Reports, 2023

    DOI 10.5336/caserep.2022-94777 Open-access full textSource: OpenAlex

  22. Experiences in the molecular genetic and histopathological evaluation of calpainopathies

    Neurogenetics, 2022

    DOI 10.1007/s10048-022-00687-4 PMID 35157181 5 citations (Europe PMC) Source: ORCID

  23. Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey

    Turkish Archives of Pediatrics, 2022

    DOI 10.5152/turkarchpediatr.2022.21291 PMID 35781232 3 citations (Europe PMC) Open-access full textSource: ORCID

  24. Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

    Neurological Sciences, 2021

    DOI 10.1007/s10072-021-05067-8 PMID 33486620 16 citations (Europe PMC) Source: ORCID

  25. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

    Journal of Pediatric Endocrinology and Metabolism, 2021

    DOI 10.1515/jpem-2020-0410 PMID 33629572 15 citations (Europe PMC) Source: ORCID

  26. The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis

    The clinical respiratory journal, 2021

    DOI 10.1111/crj.13284 PMID 32981210 Source: Europe PMC

  27. A rare homozygous microdeletion syndrome: hypotonia-cystinuria syndrome

    Molecular Genetics and Metabolism, 2021

    DOI 10.1016/s1096-7192(21)00268-7 Source: ORCID

  28. Kanser Tanı ve Takibinde Kullanılan Moleküler Yöntemler: Yeni Nesil Dizileme ve Likit Biyopsi

    2021

    Source: OpenAlex

  29. Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

    Journal of Dr Behcet Uz Children s Hospital, 2020

    DOI 10.5222/buchd.2020.43155 Open-access full textSource: OpenAlex

  30. SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

    Molecular Genetics and Metabolism Reports, 2020

    DOI 10.1016/j.ymgmr.2020.100657 PMID 33134083 17 citations (Europe PMC) Open-access full textSource: ORCID

  31. Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

    Journal of Dr Behcet Uz Children s Hospital, 2020

    DOI 10.5222/buchd.2020.09471 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  32. Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient

    Clinical Neuropharmacology, 2020

    DOI 10.1097/wnf.0000000000000392 PMID 32501858 4 citations (OpenAlex) Source: OpenAlex

  33. Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction?

    Journal of Perinatal Medicine, 2020

    DOI 10.1515/jpm-2020-0010 PMID 32242833 7 citations (Europe PMC) Source: ORCID

  34. A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation

    The Journal of Pediatric Research, 2020

    DOI 10.4274/jpr.galenos.2019.36034 1 citation (OpenAlex) Open-access full textSource: ORCID

  35. Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

    Urology Research and Practice, 2020

    DOI 10.5152/tud.2019.19156 PMID 32125967 4 citations (Europe PMC) Open-access full textSource: ORCID

  36. Genetic Evaluation of Turkish patients with Colorectal Carcinoma in Terms of Lynch Syndrome by Targeted Next Generation Sequencing

    Journal of Basic and Clinical Health Sciences, 2020

    DOI 10.30621/jbachs.2020.897 2 citations (OpenAlex) Open-access full textSource: ORCID

  37. Homozygous hypomorphic SOX9 mutation in two 46, XY sisters without skeletal malformations

    European Journal of Human Genetics, 2020

    Source: ORCID

  38. The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

    Journal of Pediatric Genetics, 2020

    DOI 10.1055/s-0039-1698420 PMID 31976138 3 citations (Europe PMC) Open-access full textSource: ORCID

  39. The Frequency and Management of TP53 Mutation Carriers in Turkish Patients with BRCA-Negative Breast Cancer Under 50 Years of Age

    Turk Onkoloji Dergisi, 2020

    DOI 10.5505/tjo.2020.2107 Open-access full textSource: ORCID

  40. PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source: OpenAlex

  41. New Insight of Tumor Microenvironment in Non-Small Cell Lung Cancer

    Journal of Basic and Clinical Health Sciences, 2019

    DOI 10.30621/jbachs.2019.625 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  42. The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome

    Turkish Journal of Pediatrics, 2019

    DOI 10.24953/turkjped.2019.04.017 PMID 31990478 1 citation (Europe PMC) Open-access full textSource: ORCID

  43. A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene

    International Journal of Neuroscience, 2019

    DOI 10.1080/00207454.2019.1653293 PMID 31385551 6 citations (Europe PMC) Source: ORCID

  44. Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

    Annals of Human Genetics, 2019

    DOI 10.1111/ahg.12319 PMID 31066050 32 citations (OpenAlex) Source: OpenAlex

  45. Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

    Molecular Genetics & Genomic Medicine, 2019

    DOI 10.1002/mgg3.678 PMID 31070015 9 citations (Europe PMC) Open-access full textSource: ORCID

  46. The Role of Interleukin-1 Beta C-511T as a Modifier Polymorphism in Cryopyrin-associated Periodic Syndromes

    The Journal of Pediatric Research, 2019

    DOI 10.4274/jpr.galenos.2019.93446 Open-access full textSource: ORCID

  47. A case of X-linked adrenoleukodystrophy presenting with primary adrenal insufficiency and normal VLCFA

    Hormone Research in Paediatrics, 2019

    Source: ORCID

  48. A case with a homozygous novel mutation in AGPS with non-rhizomelic body structure

    European Journal of Human Genetics, 2019

    Source: ORCID

  49. A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance

    Hormones, 2019

    DOI 10.1007/s42000-019-00094-9 PMID 30747412 13 citations (Europe PMC) Source: ORCID

  50. A rare cause of primer adrenal insufficiency: NROB1 (DAX1) mutation

    Hormone Research in Paediatrics, 2019

    Source: ORCID