Biography

Date of Birth : 1989

University      Kirikkale University Faculty of Medicine

High school   : TED Kdz Eregli College

Professional Experience:

2019-2021 : Medical Genetic Specialist, Kocaeli University Faculty of Medicine

2013-2018 : Research associate  Erciyes University Faculty of Medicine

Profession:

Dysmorphology, Cytogenetics, Molecular-Cytogenetics, Molecular Genetics, Genetic Counseling

Publications:

  1. Change in gene expression levels of GABA, glutamate and neurosteroid pathways due to acoustic trauma in the cochlea
  2. The molecular basis and genotype–phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population
  3. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes
  4. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
  5. Retrospective evaluation of results of 3617 invasive prenatal diagnosis cases applied between 1997-2015 years
  6. Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding
  7. Atypical case of Angelman syndrome in infant with 45,X,der(15)t(y;15)(q12;q10) karyotype.
  8. Statistical Analysis of Families with Recurrent Pregnancy Loss and Infertility Applied Between 2010-2013 and Frequency of Chromosome Variants
  9. Gene variants of Congenital Adrenal Hyperplasia in Anatolian population
  10. FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis
  11. Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
  12. NF1 gene variant allele frequencies comparison of Turkish population with databases
  13. General Review Of Statistical Data In Fmf Disease And Genotype-Phenotype Correlation
Papers:
  1. A case of SRY positive 46, XX male with speaking disorder
  2. A case of XYY male patient with micropenis
  3. A novel nonsense mutation in GALNS gene in family with MPS4A diagnosed child
  4. Two novel missense variants of FGFR2 gene in two patients with Pfeiffer Syndrome Type 3
  5. Retrospective results of 18 years prenatal diagnosis cases and its evaluation
  6. Frequency of chromosome variants in families with recurrent pregnancy loss and statistical analysis of infertility
  7. The correlation of genotype–phenotype of FMF disease and its review of statistical data
  8. Novel FBN1 gene frameshift mutation in patient with type 1 Chiari malformation
  9. FGFR2 Gene Mutations Detected in Subjects with Syndromic or Isolated Craniosynostosis

Books & Book Chapters:

  1. An Overview of Medical Genetics and Genetics in Congenital Chest Wall Deformities
  2. Neuromuscular Diseases and Genetics