Medical Genetics

Doç. Dr. Büşranur Çavdarlı

Doctor and researcher Ankara Bilkent Şehir Hastanesi Ankara
Abnormalities, MultipleMicrocephalyDevelopmental DisabilitiesEpilepsyIntellectual DisabilityHeart Defects, CongenitalCystic FibrosisProteinuriaCOVID-19CholestasisExfoliation Syndrome
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Abnormalities, Multiple 5 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Microcephaly 5 publications
  • Developmental Disabilities 4 publications
  • Epilepsy 3 publications
  • Intellectual Disability 3 publications
  • Heart Defects, Congenital 2 publications
  • Cystic Fibrosis 2 publications
  • Proteinuria 2 publications
  • COVID-19 2 publications
  • Cholestasis 2 publications
  • Exfoliation Syndrome 2 publications

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Where does this information come from?

The source is stated next to each piece of information. If you see something wrong, you can suggest a correction.

  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • InstitutionAnkara Bilkent Şehir Hastanesisaglik.gov.trFrom source
  • Area of workAbnormalities, MultipleExtracted from 5 publications · Model version —From source
  • Publications92 publicationsOpenAlex, Europe PMCFrom source
  • ORCID0000-0002-0953-6210ORCIDFrom source
  • Last synchronised7 November 2026 00:02https://ankarasehir.saglik.gov.tr/TR-435798/tibbi-genetik-klinigi-doktorlarimiz.html#busranur-cavdarlisaglik.gov.tr

Scientific work

Publications on Abnormalities, Multiple

92 publications

  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

View all 92 publications