Medical Genetics

Doç. Dr. Ahmet Yeşilyurt

Doctor and researcher Acıbadem Maslak HastanesiAcıbadem Atakent Hastanesi İstanbul
Intellectual DisabilityNeurodevelopmental DisordersMicrocephalyAbnormalities, MultipleFamilial Mediterranean FeverDevelopmental DisabilitiesCerebellar Ataxia
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Intellectual Disability 6 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Neurodevelopmental Disorders 3 publications
  • Microcephaly 3 publications
  • Abnormalities, Multiple 3 publications
  • Familial Mediterranean Fever 3 publications
  • Developmental Disabilities 2 publications
  • Cerebellar Ataxia 2 publications

Person ↔ Disease

Which topics does this doctor work on?

From source

Medical areas of interest stated by the doctor on the institution profile. Source: acibadem.com.tr.

  • Wellness
  • Doğuştan Metabolik Bozukluklar
  • Doğumsal Kalp Hastalıkları
  • Fetal DNA Testi
  • DNA Testi
  • Aritmiler
  • Erkeklerde Meme Kanseri
  • Kas ve Sinir Hastalıkları (Miyopati vb.)

CV

Education and experience

From source

Experience

  • 2019Acıbadem Sağlık Grubuacibadem.com.tr
  • 2019Acıbadem Maslak Hastanesi Tıbbi Genetik Polikliniği / Tıbbi Genetik Uzmanıacibadem.com.tr
  • 2019Acıbadem Labgen Genetik Değerlendirme Merkezi / Direktöracibadem.com.tr
  • 2019Acıbadem Labmed Ankara Doku Tipleme Laboratuvarı / Supervisoracibadem.com.tr
  • 2018 - 2019Yeni Yüzyıl Üniversitesi, Gaziosmanpasa Hastanesi, Genetik Tanı Merkezi / Tıbbi Genetik Uzmanı / İstanbulacibadem.com.tr
  • 2013 - 2017Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi / Doçent Doktor / Genetik Tanı Merkezi Sorumlusu / Doku Tipleme Laboratuarı Sorumlusu / Ankaraacibadem.com.tr
  • 2013Reprogenetics, Livingston, NJ, USA / Visiting Scholaracibadem.com.tr
  • 2012 - 2013Dr. Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi, Genetik Tanı Merkezi / Sorumlu Hekim / Doçent Doktor / Ankaraacibadem.com.tr
  • 2008Charite University, Institute of Transfusion Medicine Berlin,GERMANY / Visiting Scholaracibadem.com.tr
  • 2007 - 2012Dr. Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi, Genetik Merkezi / Sorumlu Hekim / Uzman Doktor / Ankaraacibadem.com.tr
  • 2003 - 2007Atatürk Üniversitesi Tıp Fakültesi / Dr.Ar.Gör. / Erzurumacibadem.com.tr
  • 1998 - 2003M.E.B. Sağlık Eğitim Merkezi / Pratisyen Hekim / Erzurumacibadem.com.tr

Education

  • 2007Atatürk Üniversitesi Tıp Fakültesi, Tıbbi Genetik, Uzmanlıkacibadem.com.tr
  • 1998Atatürk Üniversitesi Tıp Fakültesi, Üniversiteacibadem.com.tr

Trust

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 Geneticsacibadem.com.trFrom source
  • InstitutionAcıbadem Maslak Hastanesi, Acıbadem Atakent Hastanesiacibadem.com.trFrom source
  • Area of workIntellectual DisabilityExtracted from 6 publications · Model version —From source
  • Publications65 publicationsOpenAlexFrom source
  • Last synchronised4 November 2026 20:58https://www.acibadem.com.tr/doktor/ahmet-yesilyurt/acibadem.com.tr

Scientific work

Publications on Intellectual Disability

65 publications

  1. Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature

    International Journal of Developmental Neuroscience, 2026

    DOI 10.1002/jdn.70174 PMID 42587386 Open-access full textSource: OpenAlex

  2. Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

    The American Journal of Human Genetics, 2026

    DOI 10.1016/j.ajhg.2025.12.011 PMID 41544630 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  3. De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder

    Molecular Psychiatry, 2026

    DOI 10.1038/s41380-026-03877-w PMID 41415500 Source: OpenAlex

  4. Biallelic variants in CFAP20DC cause primary ciliary dyskinesia due to abnormal ciliary clearance

    American Journal of Respiratory and Critical Care Medicine, 2026

    DOI 10.1093/ajrccm/aamag524 PMID 42853647 Source: OpenAlex

  5. MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

    The American Journal of Human Genetics, 2026

    DOI 10.1016/j.ajhg.2025.12.015 PMID 41570816 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  6. De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities

    American Journal of Medical Genetics Part A, 2026

    DOI 10.1002/ajmg.a.70097 PMID 41804662 Source: OpenAlex

  7. Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence‐Farazi Cerebellar Ataxia Syndrome

    American Journal of Medical Genetics Part A, 2026

    DOI 10.1002/ajmg.a.70125 PMID 41821366 Source: OpenAlex

  8. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

    Frontiers in Pediatrics, 2025

    DOI 10.3389/fped.2025.1471965 PMID 40083435 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  9. Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    The American Journal of Human Genetics, 2025

    DOI 10.1016/j.ajhg.2025.02.005 PMID 39417135 Source: OpenAlex

  10. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

    The American Journal of Human Genetics, 2025

    DOI 10.1016/j.ajhg.2024.12.001 PMID 39753114 5 citations (Europe PMC) Open-access full textSource: OpenAlex

View all 65 publications