Scientific work

Doç. Dr. Büşranur Çavdarlı

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

Back to profile

  1. Association study of optineurin gene polymorphisms T34T and M98K with normal tension glaucoma in a Turkish cohort

    Scientific Reports, 2026

    DOI 10.1038/s41598-026-43217-0 PMID 41796220 Open-access full textSource: OpenAlex

  2. Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases

    Clinical genetics, 2026

    DOI 10.1111/cge.70193 PMID 42261585 Open-access full textSource: Europe PMC

  3. Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion

    American journal of medical genetics. Part A, 2026

    DOI 10.1002/ajmg.a.70087 PMID 41703727 Source: Europe PMC

  4. Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications

    European journal of pediatrics, 2026

    DOI 10.1007/s00431-026-07511-3 PMID 42862371 Source: Europe PMC

  5. MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye

    Pediatric pulmonology, 2026

    DOI 10.1002/ppul.71556 PMID 41795673 Source: Europe PMC

  6. 2.06P Clinical and genetic profile of children with LAMA2-related dystrophies in Turkey

    Neuromuscular Disorders, 2026

    DOI 10.1016/j.nmd.2026.106723 Source: OpenAlex

  7. When cystic fibrosis is not the answer: reclassification and follow-up of children with an unresolved diagnosis after extended CFTR gene analysis

    European Journal of Pediatrics, 2026

    DOI 10.1007/s00431-026-07542-w PMID 42931970 Source: OpenAlex

  8. Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta

    Journal of clinical research in pediatric endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2024.2024-8-14 PMID 39713907 1 citation (Europe PMC) Open-access full textSource: Europe PMC

  9. A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study

    Medicina, 2025

    DOI 10.3390/medicina61071164 PMID 40731793 Open-access full textSource: OpenAlex

  10. Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy

    American journal of medical genetics. Part A, 2025

    DOI 10.1002/ajmg.a.64134 PMID 40448381 1 citation (Europe PMC) Source: Europe PMC

  11. Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants

    European journal of medical genetics, 2025

    DOI 10.1016/j.ejmg.2025.105052 PMID 41061959 1 citation (Europe PMC) Open-access full textSource: Europe PMC

  12. Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature

    American journal of medical genetics. Part A, 2025

    DOI 10.1002/ajmg.a.63909 PMID 39404469 Source: Europe PMC

  13. SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

    JCI Insight, 2025

    DOI 10.1172/jci.insight.173484 PMID 40131364 6 citations (OpenAlex) Open-access full textSource: OpenAlex

  14. Clinical and genetic profile of patients with leber's congenital amaurosis

    Acta Ophthalmologica, 2025

    DOI 10.1111/aos.16928 Source: OpenAlex

  15. Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls

    Acta diabetologica, 2024

    DOI 10.1007/s00592-024-02273-6 PMID 38565685 1 citation (Europe PMC) Open-access full textSource: Europe PMC

  16. A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation

    The Turkish journal of pediatrics, 2024

    DOI 10.24953/turkjpediatr.2024.4702 PMID 39387423 Open-access full textSource: Europe PMC

  17. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature

    Journal of pediatric endocrinology & metabolism : JPEM, 2024

    DOI 10.1515/jpem-2023-0411 PMID 38253347 4 citations (Europe PMC) Source: Europe PMC

  18. The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience

    The Turkish journal of pediatrics, 2024

    DOI 10.24953/turkjpediatr.2024.4699 PMID 39807739 Open-access full textSource: Europe PMC

  19. Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

    Annals of Clinical and Translational Neurology, 2024

    DOI 10.1002/acn3.52129 PMID 39030736 9 citations (OpenAlex) Open-access full textSource: OpenAlex

  20. Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants

    Gazi Medical Journal, 2024

    DOI 10.12996/gmj.2023.3795 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  21. Neurogenic Bladder: A Rare Autonomic Sign in a Patient With Preserved Speech Variant (Zappella Variant) Rett Syndrome

    Turkish Journal of Pediatric Disease, 2024

    DOI 10.12956/tchd.1408162 Open-access full textSource: OpenAlex

  22. 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 Science University of Ankara Series C Biology Geological Engineering and Geophysical Engineering, 2024

    DOI 10.53447/communc.1407463 Open-access full textSource: OpenAlex

  23. Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations

    Endocrinology research and practice., 2023

    DOI 10.5152/erp.2023.220405 Open-access full textSource: OpenAlex

  24. Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort

    The Tohoku Journal of Experimental Medicine, 2023

    DOI 10.1620/tjem.2023.j071 PMID 37635061 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  25. High diagnostic yield with algorithmic molecular approach on hereditary neuropathies

    Revista da Associacao Medica Brasileira (1992), 2023

    DOI 10.1590/1806-9282.20220929 PMID 36790232 3 citations (Europe PMC) Open-access full textSource: Europe PMC

  26. Neuromuscular disease genetics in under-represented populations: increasing data diversity

    Brain : a journal of neurology, 2023

    DOI 10.1093/brain/awad254 PMID 37516995 25 citations (Europe PMC) Open-access full textSource: Europe PMC

  27. P293 Clinical and genetic spectrum of sarcoglycanopathies in a cohort of Turkish patients with a possible founder variation

    Neuromuscular Disorders, 2023

    DOI 10.1016/j.nmd.2023.07.203 1 citation (OpenAlex) Source: OpenAlex

  28. Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report

    Molecular syndromology, 2023

    DOI 10.1159/000527538 PMID 37064335 7 citations (Europe PMC) Open-access full textSource: Europe PMC

  29. Neurofibromatosis Type 1 and Type2 (NF1 and NF2): Molecular Genetic Profiles of the Patients

    Acta Oncologica Turcica, 2023

    DOI 10.5505/aot.2023.10692 Open-access full textSource: OpenAlex

  30. Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

    Molecular Syndromology, 2023

    DOI 10.1159/000531668 PMID 38058758 Open-access full textSource: OpenAlex

  31. B Hücreli Lenfomalarda Sitogenetik Analizlerin Terapotik ve Prognostik Sürece Katkısı: 2 Vaka Sunumu

    AYBU AVESIS, 2023

    Source: OpenAlex

  32. Predictive Factors for Molecular Response in Chronic Myeloid Leukemia: Reduction Ratio and Halving Time of BCR::ABL1 IS Transcript Levels

    The Turkish Journal of Hematology, 2022

    DOI 10.4274/tjh.galenos.2022.2022-0024 PMID 35620443 2 citations (Europe PMC) Open-access full textSource: ORCID

  33. High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

    Annals of Human Genetics, 2022

    DOI 10.1111/ahg.12492 PMID 36575883 13 citations (OpenAlex) Source: OpenAlex

  34. Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition

    The Tohoku Journal of Experimental Medicine, 2022

    DOI 10.1620/tjem.2022.j087 PMID 36288950 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  35. Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome

    The Turkish journal of pediatrics, 2022

    DOI 10.24953/turkjped.2020.3992 PMID 36305450 10 citations (Europe PMC) Open-access full textSource: Europe PMC

  36. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum

    Annals of human genetics, 2022

    DOI 10.1111/ahg.12456 PMID 34961929 2 citations (Europe PMC) Source: Europe PMC

  37. 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

    DOI 10.1111/ajco.13520 PMID 33629534 7 citations (Europe PMC) Source: Europe PMC

  38. Genetik ve Dismorfoloji- "Balcı Sendromu"

    AYBU AVESIS, 2022

    Source: OpenAlex

  39. 17q12 duplikasyonu (HNF1B genini içeren): Olgu sunumu

    AYBU AVESIS, 2022

    Source: OpenAlex

  40. Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A singlecenter cohort study

    The Anatolian Journal of Cardiology, 2021

    DOI 10.5152/anatoljcardiol.2021.502 PMID 35190362 9 citations (OpenAlex) Open-access full textSource: OpenAlex

  41. Anjiyotensin Dönüştürücü Enzim (ACE1/ACE2) GenPolimorfizmi COVID-19 Pnömonisinin Ciddiyeti ÜzerineEtkili midir?

    AYBU AVESIS, 2021

    Source: OpenAlex

  42. Kalıtsal Retinopatiler ve Tanısal Yaklaşım

    2021

    Source: OpenAlex

  43. Oküler Genetik - 2021

    AYBU AVESIS, 2021

    Source: OpenAlex

  44. Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency

    The Turkish journal of pediatrics, 2021

    DOI 10.24953/turkjped.2021.06.016 PMID 35023658 8 citations (Europe PMC) Open-access full textSource: Europe PMC

  45. Severe isolated sulfide oxidase deficiency with a novel mutation

    The Turkish journal of pediatrics, 2021

    DOI 10.24953/turkjped.2021.04.021 PMID 34449156 1 citation (Europe PMC) Open-access full textSource: Europe PMC

  46. Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants

    Journal of pediatric endocrinology & metabolism : JPEM, 2021

    DOI 10.1515/jpem-2021-0055 PMID 34162036 1 citation (Europe PMC) Source: Europe PMC

  47. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

    Genetics in medicine : official journal of the American College of Medical Genetics, 2021

    DOI 10.1038/s41436-021-01260-4 PMID 34244665 24 citations (Europe PMC) Open-access full textSource: Europe PMC

  48. Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience

    Turkish Journal of Pediatric Disease, 2021

    DOI 10.12956/tchd.913588 5 citations (OpenAlex) Open-access full textSource: OpenAlex

  49. Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation

    Neurology Asia, 2021

    DOI 10.54029/2021jmr 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  50. Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients

    Annals of Medical Research, 2021

    DOI 10.5455/annalsmedres.2020.04.415 Open-access full textSource: OpenAlex