Assist. Prof. Akif Ayaz
[email protected]He graduated from Cumhuriyet University Faculty of Medicine in 2008 as a medical doctor. In 2009, he started to work as a research assistant doctor at Pamukkale University Faculty of Medicine, Department of Medical Genetics, with the specialization exam in medicine. He became a Medical Genetic Specialist in 2013 and did his compulsory service at Adana Numune Training and Research Hospital. He worked at Kanuni Training and Research Hospital in 2017-2018. He has been working as a doctor lecturer at Istanbul Medipol University Faculty of Medicine, Department of Medical Genetics since 2018. At the same time, he works as a responsible physician at Istanbul Medipol University Genetic Diseases Assessment Center. He has over 20 international/national research articles. In addition to making oral presentations at many scientific congresses, it also organizes training courses.
Selected Publications;
Clinical and Molecular Genetic Findings of Crisponi / Cold-Induced Sweating Syndrome (CS/CISS) Spectrum in Patients from Turkey
Yılmaz Gulec E, Turgut GT, Gezdırıcı A, Karaman V, Ozturk FN, Avcı S, Kalaycı T, Senturk L, Ayaz A, Kayserılı H, Uyguner OZ, Altunoğlu U. Clinical and Molecular Genetic Findings of Crisponi / Cold-Induced Sweating Syndrome (CS/CISS) Spectrum in Patients from Turkey. Clin Genet. 2022 Jun 14. doi: 10.1111/cge.14177. Epub ahead of print. PMID: 35699517.
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
Ayaz A, Gezdirici A, Yilmaz Gulec E, Ozalp O, Koseoglu AH, Dogru Z, Yalcintepe S. Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers. Medeni Med J. 2022 Jun 23;37(2):180-193. doi: 10.4274/MMJ.galenos.2022.70962. PMID: 35735171.
Further Clinical and Genetic Evidence of ASC-1 Complex Dysfunction in Congenital Neuromuscular Disease
Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P. Further Clinical and Genetic Evidence of ASC-1 Complex Dysfunction in Congenital Neuromuscular Disease. Eur J Med Genet. 2022 Jun 8:104537. doi: 10.1016/j.ejmg.2022.104537. Epub ahead of print. PMID: 35690317.
Interacting with AP1 Complex Mutated Synergin Gamma (SYNRG) Reveals a Novel Coatopathy in the Form of Complicated Hereditary Spastic Paraplegia
Ayaz A, Uzunhan TA, Aydin K. Interacting with AP1 Complex Mutated Synergin Gamma (SYNRG) Reveals a Novel Coatopathy in the Form of Complicated Hereditary Spastic Paraplegia. Brain Dev. 2022 Jan 25:S0387-7604(22)00004-3. doi: 10.1016/j.braindev.2022.01.002. Epub ahead of print. PMID: 35090779.
Homozygous Exonic and Intragenic NRXN1 Deletion Presenting as Either West Syndrome or Autism Spectrum Disorder in Two Siblings
Aksu Uzunhan T, Ayaz A. Homozygous Exonic and Intragenic NRXN1 Deletion Presenting as Either West Syndrome or Autism Spectrum Disorder in Two Siblings. Clin Neurol Neurosurg. 2022 Jan 24;214:107141. doi: 10.1016/j.clineuro.2022.107141. Epub ahead of print. PMID: 35101781.
High Prevalence of Multilocus Pathogenic Variation in Neurodevelopmental Disorders in the Turkish Population
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. High Prevalence of Multilocus Pathogenic Variation in Neurodevelopmental Disorders in the Turkish Population. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. PMID: 34582790; PMCID: PMC8546040.
A Pooled RT-PCR Testing Strategy for More Efficient COVID-19 Pandemic Management
Ayaz A, Demir AGO, Ozturk G, Kocak M. A pooled RT-PCR Testing Strategy for More Efficient COVID-19 Pandemic Management. Int J Infect Dis. 2021 Dec 15;116:1-6. doi: 10.1016/j.ijid.2021.12.328. Epub ahead of print. PMID: 34922006; PMCID: PMC8673736.
COVID-19: Pathogenesis, Genetic Polymorphism, Clinical Features and Laboratory Findings
Öztürk R, Taşova Y, Ayaz A. COVID-19: Pathogenesis, Genetic Polymorphism, Clinical Features and Laboratory Findings. Turk J Med Sci. 2020 Apr 21;50(SI-1):638-657. doi: 10.3906/sag-2005-287. PMID: 32512673.
A Case with Isochromosome 18p and 2q13 Deletion Including the BUB1 Gene
Ayaz A, Topak A, Yalcintepe S, Celik T, Yararbas K, Eser M, Yuregir OO. A Case with Isochromosome 18p and 2q13 Deletion Including the BUB1 Gene. Clin Dysmorphol. 2018 Jul;27(3):101-104. doi: 10.1097/MCD.0000000000000223.
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development
Eser M, Ayaz A. Haploinsufficiency of DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development. Balkan Med J. 2017 Dec 8. doi: 10.4274/balkanmedj.2017.0378.
A Case with Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in the CREBBP Gene
Eser M, Ayaz A, Yeşil G. A Case with Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in the CREBBP gene. Turk J Pediatr. 2017;59(5):601-603. doi: 10.24953/turkjped.2017.05.017. PubMed PMID: 29745126.
A Novel Homozygous HOXB1 Mutation in a Turkish Family with Hereditary Congenital Facial Paresis
Sahin Y, Güngör O, Ayaz A, Güngör G, Sahin B, Yaykasli K, Ceylaner S. A Novel Homozygous HOXB1 Mutation in a Turkish Family with Hereditary Congenital Facial Paresis. Brain Dev. 2016 Sep 15. pii: S0387-7604(16)30133-4. doi: 10.1016/j.braindev.2016.09.002.
Familial Mutation in Caffey Disease with Reduced Penetrance: A Case Report
Özdemir ÖMA, Tancer-Elçi H, Polat A, Güçtürk İ, Tepeli E, Zeybek S, Ayaz A.Familial Mutation in Caffey disease with Reduced Penetrance: A Case Report. Turk J Pediatr. 2016;58(6):650-653. doi: 10.24953/turkjped.2016.06.011.
Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey
Eser M, Ayaz A, Yeşil G. A Case with Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in the CREBBP Gene. Turk J Pediatr. 2017;59(5):601-603. doi: 10.24953/turkjped.2017.05.017. PubMed PMID: 29745126.
The TWIST2 Mutation Causes Setleis Syndrome: a Rare Clinical Case Report
Ayaz, Akif; Yalcintepe Sinem; Ozalp Yuregir Ozge; Sahin Yavuz; Ozer Ahmet; Eser Metin; Celik Umit. The TWIST2 Mutation Causes Setleis Syndrome: a Rare Clinical Case Report. Clinical Dysmorphology: December 23, 2016.doi: 10.1097/MCD.0000000000000156.
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region
Bozdoğan ST, Kuran G, Yüregir ÖÖ, Aslan H, Haytoğlu S, Ayaz A, Arıkan OK. The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region. J Int Adv Otol. 2015 Aug;11(2):118-21.
HLA - Matched Related Donor Hematopoietic Stem Cell Transplantation in a Patient with Polynucleotide Kinase 3-Phosphatase Mutation Developed Acute Myeloid Leukemia
Bayram N, Yaman Y, Elli M, Ozdilli K, Nepesov S, Dogan MS, Ayaz A, Anak S. HLA - Matched Related Donor Hematopoietic Stem Cell Transplantation in a Patient with Polynucleotide Kinase 3-Phosphatase Mutation Developed Acute Myeloid Leukemia. Pediatr Transplant. 2022 Jun;26(4):e14255. doi: 10.1111/petr.14255. Epub 2022 Feb 21. PMID: 35187769.
Sample tabChronic Neutropenia in Childhood: Laboratory and Clinical Features
Nepesov S, Yaman Y, Elli M, Bayram N, Ozdilli K, Ayaz A, Anak S. Chronic Neutropenia in Childhood: Laboratory and Clinical Features. Indian J Pediatr. 2022 Mar 10. doi: 10.1007/s12098-022-04104-4. Epub ahead of print. PMID: 35267133
How to Manage Low Estriol Levels in Pregnancies, One Center Experience
Yilmaz Gulec E, Gezdirici A, Ayaz A, Ozturk FN, Polat I. How to Manage Low Estriol Levels in Pregnancies, One Center Experience. Medeni Med J. 2022;37(1):62-70. doi:10.4274/MMJ.galenos.2022.22747
NTNG2 Mutation: A Candidate Gene for a New Brain-Skin Disorder with Early Neuropsychiatric Manifestation? An Analysis Based on 3000 Patients
Ayaz A, Yuluğ B. NTNG2 Mutation: A Candidate Gene for a New Brain-Skin Disorder with Early Neuropsychiatric Manifestation? An Analysis Based on 3000 Patients. Acta Medica Alanya. 2022; 6(1): 93-99.