Research Areas
Health Sciences
Academic Titles / Tasks
2021 - Continues
2021 - ContinuesAssistant Professor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
Managerial Experience
2022 - Continues
2022 - ContinuesACURARE Vice President
Acibadem Mehmet Ali Aydinlar University, School Of Medicine
Published journal articles indexed by SCI, SSCI, and AHCI
2022
2022Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene
Kirmizibekmez H., Demirkol Y. K., Dogan Ö., Seymen G., Balci E. I., Atla P., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.35, no.5, pp.657-662, 2022 (SCI-Expanded)
2022
2022Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
AKGÜN DOĞAN Ö., Agaoglu N. B., K. Demirkol Y., Doganay L., Ergul Y., Karacan M.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, vol.33, no.2, pp.262-273, 2022 (SCI-Expanded)
2022
2022Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer
Agaoglu N. B., Unal B., Dogan Ö., Zolfagharian P., Sharifli P., Karakurt A., et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, vol.22, no.2, pp.239-246, 2022 (SCI-Expanded)
2021
2021Kohlschutter-Tonz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Akgun-Dogan Ö., Simsek-Kiper P. O., Taskiran E., Schossig A., ÜTİNE G. E., Zschocke J., et al.
JOURNAL OF CHILD NEUROLOGY, vol.36, no.10, pp.816-822, 2021 (SCI-Expanded)
2021
2021Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases
Sozeri B., Demir F., SÖNMEZ H. E., Karadag S. G., Demirkol Y. K., AKGÜN DOĞAN Ö., et al.
CLINICAL RHEUMATOLOGY, vol.40, no.6, pp.2327-2337, 2021 (SCI-Expanded)
2021
2021Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oro-nasopharyngeal swabs
Dogan Ö., Kose B., Agaoglu N. B., Yildiz J., Alkurt G., Demirkol Y. K., et al.
JOURNAL OF VIROLOGICAL METHODS, vol.290, 2021 (SCI-Expanded)
2021
2021The same mutation in a family with adenosine deaminase 2 deficiency
Sozeri B., Ercan G., Dogan Ö., Yildiz J., Demir F., Doganay L.
RHEUMATOLOGY INTERNATIONAL, vol.41, no.1, pp.227-233, 2021 (SCI-Expanded)
2020
2020Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases
Demir F., AKGÜN DOĞAN Ö., Demirkol Y. K., Tekkus K. E., Canbek S., Karadag S. G., et al.
CLINICAL RHEUMATOLOGY, vol.39, no.12, pp.3733-3745, 2020 (SCI-Expanded)
2020
2020H syndrome with a novel homozygousSLC29A3mutation in two sisters
Demir D., Karabay E. A., Sozeri B., Gursoy F., Dogan Ö., Topaktas E., et al.
PEDIATRIC DERMATOLOGY, vol.37, no.6, pp.1135-1138, 2020 (SCI-Expanded)
2020
2020Peters Plus syndrome: a recognizable clinical entity
Demir G. U., GÜLERAY LAFCI N., AKGÜN DOĞAN Ö., Kiper P. O. S., ÜTİNE G. E.
TURKISH JOURNAL OF PEDIATRICS, vol.62, no.1, pp.136-140, 2020 (SCI-Expanded)
2019
2019ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes
Akgun-Dogan Ö., Simsek-Kiper P. O., TAŞKIRAN Z. E., Lissewski C., Brinkmann J., Schanze D., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.179, no.12, pp.2474-2480, 2019 (SCI-Expanded)
2019
2019A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation
GÜNDÜZ T., Demirkol Y., AKGÜN DOĞAN Ö., Demir S., Akcakaya N. H.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, vol.28, no.11, 2019 (SCI-Expanded)
2019
2019Ophthalmo-acromelic syndrome in an infant
Urel-Demir G., TAŞKIRAN Z. E., Akgun-Dogan Ö., Simek-Kiper P. O., ÜTİNE G. E.
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.7, 2019 (SCI-Expanded)
2019
2019Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum
Dogan Ö., Demir G. U., KOŞUKCU C., TAŞKIRAN Z. E., Simsek-Kiper P. O., ÜTİNE G. E., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.6, 2019 (SCI-Expanded)
2019
2019A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.
ŞİMŞEK KİPER P. Ö., KOŞUKCU C., Akgun-Dogan Ö., GÖÇMEN R., ÜTİNE G. E., SOYER T., et al.
European journal of medical genetics, vol.62, no.1, pp.21-26, 2019 (SCI-Expanded)
2018
2018Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification
Urel-Demir G., Simsek-Kiper P. O., Akgun-Dogan Ö., GÖÇMEN R., Wang Z., Matsumoto N., et al.
JOURNAL OF HUMAN GENETICS, vol.63, no.9, pp.1003-1007, 2018 (SCI-Expanded)
2018
2018Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
Simsek-Kiper P. O., Taskiran E. Z., KOŞUKCU C., Urel-Demir G., Akgun-Dogan Ö., YILMAZ G., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.176, no.9, pp.2009-2016, 2018 (SCI-Expanded)
2018
2018Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center
Dogan Ö., Demir G. U., Arslan U., Simsek-Kiper P. O., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.
AMERICAN JOURNAL OF PERINATOLOGY, vol.35, no.5, pp.427-433, 2018 (SCI-Expanded)
2018
2018Anauxetic dysplasia: A rare clinical entity
Akgun-Dogan Ö., Simsek-Kiper P. O., ÜTİNE G. E., BODUROĞLU O. K.
TURKISH JOURNAL OF PEDIATRICS, vol.60, no.1, pp.89-93, 2018 (SCI-Expanded)
2017
2017Coexistence of Trisomy.. and SRY (-) XX Ovotesticular Disorder of Sex Development
Demir G. U., Dogan Ö., Kiper P. O. S., ÜTİNE G. E., BODUROĞLU O. K., Gucer S., et al.
FETAL AND PEDIATRIC PATHOLOGY, vol.36, no.6, pp.445-451, 2017 (SCI-Expanded)
Articles Published in Other Journals
2021
2021Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study
Karakok B., AKDEMİR D., YALÇIN S. S., ÖZUSTA H. Ş., ÜTİNE G. E., AKGÜN DOĞAN Ö., et al.
GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, vol.19, no.3, pp.363-372, 2021 (ESCI)
2020
2020The musculoskeletal system manifestations in children with familial Mediterranean fever
Demir F., Bolac L. G., Merter T., Canbek S., Dogan Ö., Demirkol Y. K., et al.
NORTHERN CLINICS OF ISTANBUL, vol.7, no.5, pp.438-442, 2020 (Peer-Reviewed Journal)
2020
2020Responding to COVID-19 in Istanbul: Perspective from genomic laboratory
Doganay L., Agaoglu N. B., Irvem A., Alkurt G., Yildiz J., Kose B., et al.
NORTHERN CLINICS OF ISTANBUL, vol.7, no.3, pp.311-312, 2020 (ESCI)
2020
2020The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey
Karacan I., Akgun T. K., Agaoglu N. B., Irvem A., Alkurt G., Yildiz J., et al.
NORTHERN CLINICS OF ISTANBUL, vol.7, no.3, pp.203-209, 2020 (ESCI)
2018
2018Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey
Dogan Ö., Topcu S., Tanir N. G.
JOURNAL OF PEDIATRIC RESEARCH, vol.5, no.1, pp.11-16, 2018 (Peer-Reviewed Journal)
2016
2016Monogenic diabetes Monogenik diyabet
Doǧan Ö., Utine G. E., Alikaşifoǧlu A.
Cocuk Sagligi ve Hastaliklari Dergisi, vol.59, no.3, pp.140-151, 2016 (Scopus)
Refereed Congress / Symposium Publications in Proceedings
2019
2019Gilbert Sendromu: Genetik Test Yapılması Gerekli mıdır?
GERENLİ N., KENDİR DEMİRKOL Y., AKGÜN DOĞAN Ö.
63. TÜRKİYE MİLLİ PEDİATRİ KONGRESİ, Gazi Mağosa, Cyprus (Kktc), 30 October 2019
2019
2019Stuve-Wiedemann syndrome: a rare clinical entity
Dogan Ö., Demirkol Y. K., Say M., Akgun T. K., Doganay L.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1300-1301
2019
2019A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita
Demirkol Y. K., Dogan Ö., Say M., Akgun T. K., Doganay L.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1273-1274
2019
2019Vascular ehlers-danlos syndrome
Agaoglu N., Demirkol Y. K., Dogan Ö., Say M., Akgun T. K., Doganay H.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1279
2019
2019GENETIC SCREENING IN PATIENTS WITH UNDIFFERENTIATED PERIODIC FEVER SYNDROME
Demir F., Dogan Ö., Kendirci Y., Tekkus K. E., Canbek S., AKTAY AYAZ N., et al.
Annual European Congress of Rheumatology (EULAR), Madrid, Spain, 12 - 15 June 2019, vol.78, pp.974
2017
2017Ophthalmo-acromelic syndrome in an infant
Demir G. U., TAŞKIRAN Z. E., DOĞAN Ö., Kiper P. O. S., ÜTİNE G. E.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.959
2017
2017Absence of major eye malformations further expands the phenotype of SOX2 deletions
Guleray N., Demir G. U., DOĞAN Ö., Kiper P. O. S., ÜTİNE G. E., ALİKAŞİFOĞLU M.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.500-501
2017
2017RSPRY1-associated skeletal dysplasia: Spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
Simsek-Kiper P. O., TAŞKIRAN Z. E., KOŞUKCU C., Akgun-Dogan Ö., YILMAZ G., ÜTİNE G. E., et al.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.249-250
2017
2017Homozygous novel variant in MUT in a patient with intellectual disability without metabolic derangement
Utine E. G., TAŞKIRAN Z. E., KOŞUKCU C., DOĞAN Ö., Kiper O. P. S., BODUROĞLU O. K., et al.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.932
Memberships / Tasks in Scientific Organizations
2012 - Continues
2012 - ContinuesÇocuk Genetik Hastalıkları Derneği
Member
Mobility Activity
2021 - 2022
2021 - 2022Post Doc
Post Doc
Yale University, United States Of America
Congress and Symposium Activities
11 June 2022 - 14 June 2022
11 June 2022 - 14 June 2022European Society of Human Genetics Conference
Attendee
Vienna-Austria
Invited Talks
June 2022
June 2022Genetik Testlerin Yorumlanması
Workshop
Cerrahpaşa Romatoloji Derneği-Turkey
June 2022
June 2022Pediatride Genetik Testlerin Kullanımı
Conference
Çukurova Üniversitesi-Turkey
Scholarships
2021 - 2022
2021 - 2022