Assoc. Prof. ÖZLEM AKGÜN DOĞAN

Metrics

Publication

Citation (WoS)

H-Index (WoS)

Citation (Scopus)

H-Index (Scopus)

Project

Open Access

UN Sustainable Development Goals

Dissertations

2022

Expertise 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

Associate Professor

Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences

2021 - 2022

Assistant Professor

Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences

Managerial Experience

2023 - Continues

Fakülte Yönetim Kurulu Üyesi

Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences

2022 - Continues

Program Coordinator

Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences

2022 - Continues

ACURARE Vice President

Acibadem Mehmet Ali Aydinlar University, School Of Medicine

2022 - 2023

Toplumsal Katkı Komisyonu Üyeliği

Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences

Courses

Undergraduate

Pediatric Genetics

Undergraduate

From Genotype to Phenotype

Undergraduate

Mendelian Inheritance

Undergraduate

Translational Medicine

Undergraduate

Developmental Genetics

Undergraduate

Non Mendelian Inheritance

Undergraduate

Introduction to Pediatrics

Undergraduate

Clinical Cytogenetics

Postgraduate

Mendelian Inheritance Patterns

Postgraduate

Applications of genetic testing from clinic point of view

Postgraduate

Developmental Genetics

Published journal articles indexed by SCI, SSCI, and AHCI

2024

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant

AKGÜN DOĞAN Ö., Diaz-Gonzalez F., de Lima Jorge A. A., Onenli-Mungan N., Menezes Andrade N. L., de Polli Cellin L., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.32, no.10, pp.1250-1256, 2024 (SCI-Expanded)

2024

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

Akinci G., Alyaarubi S., Patni N., Alhashmi N., Al-Shidhani A., Prodam F., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.194, no.6, 2024 (SCI-Expanded)

2024

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Riedhammer K. M., Nguyen T. T., Koşukcu C., Calzada-Wack J., Li Y., Assia Batzir N., et al.

Kidney International , vol.105, no.4, pp.844-864, 2024 (SCI-Expanded)

2024

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants.

Atmaca F. G., Akgün Doğan Ö., Kutlubay B., Kırmızıbekmez H.

Journal of clinical research in pediatric endocrinology , 2024 (SCI-Expanded)

2024

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Akgün Doğan Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.

FRONTIERS IN GENETICS , vol.15, 2024 (SCI-Expanded)

2024

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Yilmaz K., SAYGILI S. K., CANPOLAT N., AKGÜN DOĞAN Ö., YÜRÜK YILDIRIM Z. N., Cicek-Oksuz R. Y., et al.

FRONTIERS IN PEDIATRICS , vol.12, 2024 (SCI-Expanded)

2023

A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)

SAYGILI S. K., Kosukcu C., BAŞTUĞ T., AKGÜN DOĞAN Ö., Yilmaz E. K., Kalyoncu A. U., et al.

CLINICAL GENETICS , vol.104, no.6, pp.679-685, 2023 (SCI-Expanded)

2023

DNAJC21-related thrombocytopenia in a young adult female

ASLAN D., AKGÜN DOĞAN Ö., Ay B., ÇAMURDAN M. O., Mancilar H., ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS , vol.193, no.2, pp.193-197, 2023 (SCI-Expanded)

2023

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Parra A., Rabin R., Pappas J., Pascual P., Cazalla M., Arias P., et al.

GENES , vol.14, no.6, 2023 (SCI-Expanded)

2023

Clinical 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

Diagnostic 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

Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results

Hatirnaz Ng Ö., Sahin I., Erbilgin Y., Ozdemir Ö., Yucesan E., Erturk N., et al.

FRONTIERS IN PUBLIC HEALTH , vol.10, 2023 (SCI-Expanded)

2022

Concurrent 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

Familial 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

COVID-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

Consistency 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

Determining 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

Mutational 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

Kohlschutter-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

Comparison 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

Does 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

The 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

Genetic 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

H 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

Peters 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

ADA2 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

A 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

Ophthalmo-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

Hyperphosphatasia 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

A 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

Further 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

Further 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

Prenatal 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

Anauxetic 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

Coexistence 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

A 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

Evaluation 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

Clinical 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

Clinical 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

Evaluation 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

Investigation 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

Psychometric 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

The 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

Responding 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

The 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

Varicella-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

Monogenic 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

2024

Yoğun Bakımdaki Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı-İlk Türkiye Deneyimi

Güner Yılmaz B., Akgün Doğan Ö., Özdemir Ö., Bilgüvar K., Hatırnaz Ng Ö., Özköse G. Ş., et al.

Ulusal Neonatoloji Kongresi, Antalya, Turkey, 24 - 28 April 2024

2023

First Report of Heterozygous Intragenic Deletion in NPR2 Presenting with Familial Short Stature

Akgün Doğan Ö., Alanay Y.

19th Manchester Dysmorphology Conference 2023, Manchester, England, 16 - 18 November 2023, pp.10-12

2023

Camptodactyly, Tall Stature, And Hearing Loss Syndrome with a Novel Homozygous FGFR3 Variant

Akgün Doğan Ö., Abalı S., Alanay Y.

19th Manchester Dysmorphology Conference 2023, Manchester, England, 16 - 18 November 2023, pp.13-14

2023

Türkiye’De Yoğun Bakımdaki Kritik Pediatrik Hastalarda Hızlı Tüm Genom Dizileme: Bir Ön Çalışma

Akgün Doğan Ö., Alanay Y., Özdemir Ö., Hatırnaz Ng Ö., Beken S.

6. Çocuk Genetik Ulusal Kongresi, İzmir, Turkey, 9 - 12 November 2023, pp.87-88

2023

Obstacles and Expectations of Rare Disease Patients and Their Families in Türkiye: ISTisNA Project Survey Results

Hatırnaz Ng Ö., Özdemir Ö., Alanay Y., Akgün Doğan Ö.

12th International Conference on Rare and Undiagnosed Diseases, Tbilisi, Georgia, 22 - 23 October 2023, pp.1

2022

Biallelic copy number variations in both upstream & downstream enhancers of SHOX gene causes mesomelia and clubfoot without short stature

Yilmaz B. G., ABALI S., Akberzade A., Ay B., Tumer S., AKGÜN DOĞAN Ö., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.127

2022

From patient to function: modeling CRIM1 in xenopus tropicalis

AKGÜN DOĞAN Ö., Viviano S., HATIRNAZ NG Ö., Agaoglu N. B., Ji W., Jeffries L., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.656-657

2022

From patient to function: modeling CRIM1 in xenopus tropicalis

Akgün Doğan Ö.

UDNI Conference, Vienna, Austria, 7 - 08 November 2022

2022

Severely 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

2021

VERİ ANALİZİ VE YORUMLAMA

AKGÜN DOĞAN Ö.

5.Ulusal Çocuk Genetik Kongresi, Turkey, 07 October 2021

2019

Gilbert 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

Stuve-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

A 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

Vascular 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

GENETIC 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

Ophthalmo-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

Absence 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

RSPRY1-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

Homozygous 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

Books & Book Chapters

2021

Marfan Sendromu

AKGÜN DOĞAN Ö.

in: Çocuk Genetik Hastalıkları, Mıhçı Ercan, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.79-85, 2021

2021

Akondroplazi

AKGÜN DOĞAN Ö., ALANAY Y.

in: Çocuk Genetik Hastalıkları, Mıhçı, Ercan, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.66-71, 2021

2019

Genetik 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

Nörokütanöz Hastalıklar

AKGÜN DOĞAN Ö., BODUROĞLU O. K.

in: Yurdakök Pediatri, Yurdakök, Murat, Editor, Güneş Tıp Kitabevleri, Ankara, pp.2098-2112, 2017

Supported Projects

2024 - 2026

Combining Multidisciplinary Re-phenotyping with Re-analysis of WES/WGS Data in Patients with Undiagnosed Skeletal Dysplasias

TÜBİTAK International Bilateral Joint Cooperation Program Project

(Project Abstract)

Akgün Doğan Ö., Alanay Y. (Executive), Abalı S., Özdemir Ö.

2022 - 2025

Deep-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

Kalıtsal nadir böbrek hastalıklarında yeni genlerin araştırılması

Project Supported by Higher Education Institutions

Akgün Doğan Ö., Ağbaş A.(Executive), Saygılı S. K., Canpolat N., Özaltın F.

2021 - 2025

Akondroplazisi olan pediatrik hastalar için çok merkezli, çok uluslu klinik değerlendirme

Other International Funding Programs

Akgün Doğan Ö., Abalı S., Alanay Y.

2022 - 2024

İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA

Development Agency

Akgün Doğan Ö., Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.

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

“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

Investigation 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.

Activities in Scientific Journals

2023 - Continues

EUROPEAN JOURNAL OF MEDICAL GENETICS

Assistant Editor/Section Editor

Memberships / Tasks in Scientific Organizations

2022 - Continues

European Board of Clinical Genetics

Member

2022 - Continues

Undiagnosed Disease Network International

Country Representative

2019 - Continues

European Society of Human Genetics

Member

2019 - Continues

Milli Pediatri Derneği

Member

2012 - Continues

Çocuk Genetik Hastalıkları Derneği

Member

Scientific Consultations

2024 - Continues

Scientific Consultancy

Trispera İlaç

Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences, Turkey

Tasks In Event Organizations

Kasım 2023

6. Çocuk Genetik Ulusal Kongresi

Scientific Congress

Akgün Doğan Ö.

Turkey

Mobility Activity

2021 - 2022

Post Doc

Yale University, United States Of America

Congress and Symposium Activities

08 December 2023 - 09 December 2023

3. Cerrahpaşa Pediatri Günleri

Invited Speaker

İstanbul-Turkey

24 November 2023 - 26 November 2023

12th Undiagnosed Diseases Network International Conference

Invited Speaker

Tbilisi-Georgia

23 November 2023 - 23 November 2023

Prof. Selçuk Apak İstanbul Çocuk Nöroloji Toplantıları

Attendee

İstanbul-Turkey

16 November 2023 - 18 November 2023

19th Manchester Dysmorphology Conference 2023

Attendee

Manchester-England

09 November 2023 - 12 November 2023

6. Ulusal Çocuk Genetik Kongresi

Invited Speaker

İzmir-Turkey

09 November 2023 - 12 November 2023

6. Çocuk Genetik Hastalıkları Kongresi

Session Moderator

İzmir-Turkey

20 October 2023 - 21 October 2023

II.Genetik ve İmmünoloji Kampı

Invited Speaker

İstanbul-Turkey

17 June 2023 - 19 June 2023

Undiagnosed Hackathon

Working Group

Stockholm-Sweden

09 March 2023 - 11 March 2023

5. Ege Endokrin Hastalıklar ve Genetik Sempozyumu

Session Moderator

İzmir-Turkey

07 November 2022 - 08 November 2022

11th Undiagnosed Disease Network International Conference

Attendee

Vienna-Austria

18 June 2022 - 19 June 2022

Cerrahpaşa Genetik ve İmmünoloji Kampı

Invited Speaker

İstanbul-Turkey

11 June 2022 - 14 June 2022

European Society of Human Genetics Conference

Attendee

Vienna-Austria

01 June 2022 - 05 June 2022

Çukurova Pediatri Kongresi

Invited Speaker

Adana-Turkey

07 October 2021 - 09 October 2021

5. Ulusal Çocuk Genetik Kongresi

Invited Speaker

İzmir-Turkey

Invited Talks

March 2024

Use Cases from ACURAREACIBADEM University: Unsolved cases

Workshop

EJP RD Training on "Strategies to foster solutions of undiagnosed RD cases-Italy

December 2023

3. Cerrahpaşa Pediatri Günleri/Genetik testleri isterken nelere dikkat edelim? Nasıl yorumlayalım?

Conference

İstanbul Üniversitesi-Cerrahpaşa-Turkey

November 2023

Current Clinical Genetic Approaches for Rare and Undignosed Diseases/12th Undiagnosed Diseases Network International Conference

Conference

Undiagnosed Diseases Network International -Georgia

November 2023

Zihinsel Yetersizlikte RNA ve Epigenetik/ 6. Çocuk Genetik Ulusal Kongresi

Conference

Çocuk Genetik Hastalıkları Derneği-Turkey

November 2023

NGS Veri Analizi/6. Çocuk Genetik Ulusal Kongresi

Conference

Çocuk Genetik Hastalıkları Derneği-Turkey

November 2023

II.Genetik ve İmmünoloji Kampı

Seminar

Romatoloji Derneği-Turkey

November 2023

İSTİSNA Nadir ve Tanısız Hastalıkların Çözümünde Kullanılacak Stratejiler, Genomik Yaklaşımlar ve Veri Analizi Eğitim

Workshop

İstanbul Üniversitesi-Cerrahpaşa-Turkey

June 2022

Pediatride Genetik Testlerin Kullanımı

Conference

Çukurova Üniversitesi-Turkey

June 2022

Genetik Testlerin Yorumlanması

Workshop

Cerrahpaşa Romatoloji Derneği-Turkey

October 2021

Veri Analizi ve Yorumlama

Conference

-Turkey

Scholarships

2021 - 2022

Visiting Scholar

Fulbright Program

Citations

Total Citations (WOS): 139

h-index (WOS): 7

Jury Memberships

April-2023

April 2023

PhD Thesis Monitoring Committee Member

PhD Thesis Monitoring Committee Member - Acıbadem Mehmet Ali Aydınlar Üniversitesi

Scientific Research / Working Group Memberships

2022 - Continues

Udnı Functional Study Group

https://www.udninternational.org/schede-14-members

Baylor College of Medicine, United States Of America

2022 - Continues