Dissertations
2022
2022Expertise In Medicine
Ocak 2004-aralık 2010 tarihleri arasında enfeksiyon servisinde yatan suçiçeği olgularının retrospektif değerlendirilmesi
Diğer (Kurumlar,hastaneler Vb.)
Research Areas
Health Sciences
Academic Titles / Tasks
2023 - Continues
2023 - ContinuesAssociate Professor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2021 - 2022
2021 - 2022Assistant Professor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
Managerial Experience
2022 - Continues
2022 - ContinuesToplumsal Katkı Komisyonu Üyeliği
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2022 - Continues
2022 - ContinuesStaj Başkanı
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2022 - Continues
2022 - ContinuesACURARE Vice President
Acibadem Mehmet Ali Aydinlar University, School Of Medicine
Courses
Published journal articles indexed by SCI, SSCI, and AHCI
2023
2023Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I., Tuysuz B., Ozbek M. N., Tanrikulu S., Celik Guler M., Karhan A. N., et al.
Diabetes, obesity & metabolism
, 2023 (SCI-Expanded)
2023
2023Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus.
Güran Ö., Güven S., Kırmızıbekmez H., Akgün Doğan Ö., Karadeniz Bilgin L.
Journal of clinical research in pediatric endocrinology
, 2023 (SCI-Expanded)
2023
2023Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results
Hatirnaz Ng Ö., Sahin I., Erbilgin Y., Ozdemir O., Yucesan E., Erturk N., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.10, 2023 (SCI-Expanded)
2022
2022Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family
Agaoglu N. B., HATIRNAZ NG Ö., Unal B., AKGÜN DOĞAN Ö., Amanvermez U., Yildiz J., et al.
CANCER GENETICS
, vol.268-269, pp.128-136, 2022 (SCI-Expanded)
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
2022Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels
Agaoglu N. B., Unal B., AKGÜN DOĞAN Ö., Kanev M. O., Zolfagharian P., Sag S. O., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.30, no.3, pp.378-383, 2022 (SCI-Expanded)
2022
2022COVID-19 PCR test performance on samples stored at ambient temperature
Agaoglu N. B., Yildiz J., AKGÜN DOĞAN Ö., Kose B., Alkurt G., Demirkol Y. K., et al.
JOURNAL OF VIROLOGICAL METHODS
, vol.301, 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)
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)
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 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
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
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
2022
2022A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility
Atis G., Sari A. S., Soylu E., AKGÜN DOĞAN Ö.
SKIN APPENDAGE DISORDERS
, vol.8, no.6, pp.511-514, 2022 (ESCI)
2022
2022Evaluation and Long-term Monitoring of Patients with MODY, and Description of Novel Mutations
SAĞSAK E., ÖNDER A., KENDİRCİ H. N. P., Yildiz M., DOĞAN Ö. A.
JAREM
, vol.12, no.2, pp.99-107, 2022 (Peer-Reviewed Journal)
2022
2022Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders
DOĞAN Ö. A., AĞAOĞLU N. B., ALANAY Y.
Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi
, vol.11, no.1, pp.82-89, 2022 (Peer-Reviewed Journal)
2022
2022Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants
Doğan Ö., Ağaoğlu N. B.
Gulhane Medical Journal
, vol.64, no.2, pp.144-151, 2022 (Scopus)
2022
2022Evaluation of Clinical and Molecular Findings in a Group of Turkish Individuals with Marfan Syndrome
AĞAOĞLU N. B., AKGÜN DOĞAN Ö.
İstanbul Kanuni Sultan Süleyman Tıp Dergisi
, vol.14, no.1, pp.8-17, 2022 (Peer-Reviewed Journal)
2021
2021Investigation of association between ABO blood groups and COVID-19 clinical severity
İRVEM A., Sarmış A., AKGÜN DOĞAN Ö., YILDIZ J., HABİP Z., AĞAOĞLU N. B., et al.
Medical Science and Discovery , vol.8, no.12, pp.671-674, 2021 (Peer-Reviewed Journal)
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 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)
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 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)
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
2022
2022Severely Affected Newborn Female With De Novo Likely Pathogenic Variant In BCAP31
Güner Yılmaz B., Aktas S., Kazancı E., Zeybel G., Özköse G. Ş., Akgün Doğan Ö., et al.
Undiagnosed diseases network international (UDNI), Vienna, Austria, 7 - 08 November 2022
2022
2022From patient to function: modeling CRIM1 in xenopus tropicalis
Akgün Doğan Ö.
European Society of human Genetics Conference, Vienna, Austria, 11 - 14 June 2022, pp.14
2021
2021VERİ ANALİZİ VE YORUMLAMA
AKGÜN DOĞAN Ö.
5.Ulusal Çocuk Genetik Kongresi, Turkey, 07 October 2021
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
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
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
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
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
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
Books & Book Chapters
2021
2021Marfan Sendromu
AKGÜN DOĞAN Ö.
in: Çocuk Genetik Hastalıkları, Mıhçı Ercan, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.79-85, 2021
2021
2021Akondroplazi
AKGÜN DOĞAN Ö., ALANAY Y.
in: Çocuk Genetik Hastalıkları, Mıhçı, Ercan, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.66-71, 2021
2019
2019Genetik Danışma
AKGÜN DOĞAN Ö., ALANAY Y.
in: Cerebral Palsy ve Genetik, Özbek Uğur, Akçakaya Nihan Hande, Editor, Boyut Yayınevi, İstanbul, pp.57-65, 2019
2017
2017Nörokütanöz Hastalıklar
AKGÜN DOĞAN Ö., BODUROĞLU O. K.
in: Yurdakök Pediatri, Yurdakök, Murat, Editor, Güneş Tıp Kitabevleri, Ankara, pp.2098-2112, 2017
Supported Projects
2022 - 2025
2022 - 2025Deep-CP: Development of a Deep Learning Variant Pathogenicity Prediction Tool using AlphaFold for Cerebral Palsy
TUBITAK Project
BAYRAM AKÇAPINAR G. (Executive), DOĞAN T., Bilgüvar K., HATIRNAZ NG Ö., ÖZBEK U., AKGÜN DOĞAN Ö.
2021 - 2025
2021 - 2025Akondroplazisi olan pediatrik hastalar için çok merkezli, çok uluslu klinik değerlendirme
Other International Funding Programs
Akgün Doğan Ö., Abalı S., Alanay Y.
2022 - 2024
2022 - 2024İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA
Development Agency
Akgün Doğan Ö., Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.
2022 - 2024
2022 - 2024
Yenidoğan ve Çocuk Yoğun Bakım Ünitesinde (YYBÜ/ÇYBÜ) Hızla Kötüleşen Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı
Project Supported by Higher Education Institutions
(Project Abstract)
Alanay Y., Özbek U., Hatırnaz Ng Ö., Akgün Doğan Ö., Özdemir Ö., Çıtak A., et al.
2022 - 2023
2022 - 2023“Herediter Spastik Paraparezili Bir Ailede Klinik İnceleme ve ERLIN1 Geninin Hastalık Patofizyolojisindeki Yerinin Aydınlatılması”
Project Supported by Higher Education Institutions
Akgün Doğan Ö., Alanay Y., Hatırnaz Ng Ö., Açıkel Elmas M.
2021 - 2022
2021 - 2022Investigation of the Functions of Candidate Genes Determined by WholeExome Sequence Analysis in a Group of Congenital Malformations Using CRISPR /Cas9 Gene Regulation Technology in Xenopus Frog Model
Other International Funding Programs
Akgün Doğan Ö.
Memberships / Tasks in Scientific Organizations
2022 - Continues
2022 - ContinuesEuropean Board of Clinical Genetics
Member
2022 - Continues
2022 - Continues
Undiagnosed Disease Network International
Country Representative
2019 - Continues
2019 - Continues
European Society of Human Genetics
Member
2019 - Continues
2019 - Continues
Milli Pediatri Derneği
Member
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
09 March 2023 - 11 March 2023
09 March 2023 - 11 March 20235. Ege Endokrin Hastalıklar ve Genetik Sempozyumu
Session Moderator
İzmir-Turkey
07 November 2022 - 08 November 2022
07 November 2022 - 08 November 2022
11th Undiagnosed Disease Network International Conference
Attendee
Vienna-Austria
18 June 2022 - 19 June 2022
18 June 2022 - 19 June 2022Cerrahpaşa Genetik ve İmmünoloji Kampı
Invited Speaker
İstanbul-Turkey
11 June 2022 - 14 June 2022
11 June 2022 - 14 June 2022European Society of Human Genetics Conference
Attendee
Vienna-Austria
01 June 2022 - 05 June 2022
01 June 2022 - 05 June 2022Çukurova Pediatri Kongresi
Invited Speaker
Adana-Turkey
07 October 2021 - 09 October 2021
07 October 2021 - 09 October 20215. Ulusal Çocuk Genetik Kongresi
Invited Speaker
İzmir-Turkey
Invited Talks
June 2022
June 2022Genetik Testlerin Yorumlanması
Workshop
Cerrahpaşa Romatoloji Derneği-Turkey
June 2022
June 2022Pediatride Genetik Testlerin Kullanımı
Conference
Çukurova Üniversitesi-Turkey
October 2021
October 2021Veri Analizi ve Yorumlama
Conference
-Turkey
Scholarships
2021 - 2022
2021 - 2022Visiting Scholar
Fulbright Program
Citations
Total Citations (WOS): 94
h-index (WOS): 6
Scientific Research / Working Group Memberships
2022 - Continues
2022 - Continues
Udnı Functional Study Group
https://www.udninternational.org/schede-14-members
Baylor College of Medicine, United States Of America
2022 - Continues
2022 - Continues