Medical Genetics

Dr. Öğr. Üyesi Pelin Ercoşkun

Doctor and researcher Medipol Mega Üniversite Hastanesi İstanbul
Neurodevelopmental DisordersNervous System MalformationsIntellectual Disability
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Neurodevelopmental Disorders 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Nervous System Malformations 2 publications
  • Intellectual Disability 2 publications

CV

Education and experience

From source

Experience

  • 2024 - 2026Başakşehir Çam ve Sakura Şehir HastanesiUzm.Dr.

Education

  • 2023İstanbul Üniversitesi Cerrahpaşa, Tıbbi Genetikmedipol.com.tr
  • 2015Hacettepe Üniversitesi, Tıp Fakültesimedipol.com.tr

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Where does this information come from?

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  • SpecialtyMedical Geneticsmedipol.com.trFrom source
  • InstitutionMedipol Mega Üniversite Hastanesimedipol.com.trFrom source
  • Area of workNeurodevelopmental DisordersExtracted from 2 publications · Model version —From source
  • Publications17 publicationsOpenAlexFrom source
  • Languagesİngilizcemedipol.com.trFrom source
  • Last synchronised4 November 2026 20:17https://medipol.com.tr/doktorlarimiz/doktor-ogretim-uyesi-pelin-ercoskunmedipol.com.tr

Scientific work

Publications on Neurodevelopmental Disorders

17 publications

  1. Genomik imprinting bozukluklarda klinik bulgular ve genetik tanı

    Ege Tıp Dergisi, 2026

    DOI 10.19161/etd.1637605 Source: OpenAlex

  2. Beyond NLRP3: expanding the spectrum of NLR-associated autoinflammatory diseases

    Rheumatology, 2026

    DOI 10.1093/rheumatology/keag518 PMID 42755046 Open-access full textSource: OpenAlex

  3. Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still’s disease using next-generation sequencing

    Immunologic Research, 2026

    DOI 10.1007/s12026-026-09853-4 PMID 42821198 Source: OpenAlex

  4. Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series

    Genes, 2026

    DOI 10.3390/genes17101284 PMID 42938400 Open-access full textSource: OpenAlex

  5. HMGA2 associated ceRNA-HOTAIR pathway in breast cancer patients from clinicopathological perspective

    TURKISH JOURNAL OF MEDICAL SCIENCES, 2025

    DOI 10.55730/1300-0144.6027 PMID 40686703 Open-access full textSource: OpenAlex

  6. Delineating the Adult Phenotype of PGM2L1 ‐Related Neurodevelopmental Disorder

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64293 PMID 41178743 Source: OpenAlex

  7. Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study

    Basic and Clinical Neuroscience Journal, 2024

    DOI 10.32598/bcn.2024.5231.1 Source: OpenAlex

  8. Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease

    Clinical Genetics, 2024

    DOI 10.1111/cge.14687 PMID 39731278 1 citation (Europe PMC) Source: OpenAlex

  9. The right to terminate pregnancy (abortion): reflections from Turkey

    Journal of Law and the Biosciences, 2023

    DOI 10.1093/jlb/lsad023 PMID 37671116 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  10. A Novel nonsense variant in the CDH2 gene associated with ACOGS : A case report

    American Journal of Medical Genetics Part A, 2022

    DOI 10.1002/ajmg.a.62861 PMID 35708058 3 citations (Europe PMC) Source: OpenAlex

View all 17 publications