Assoc. Prof. ÖZLEM AKGÜN DOĞAN

Metrics

Publication

124

Publication (WoS)

Publication (Scopus)

Citation (WoS)

H-Index (WoS)

Citation (Scopus)

H-Index (Scopus)

Project

Thesis Advisory

Open Access

UN Sustainable Development Goals

Education

2015 - 2024

Doctorate

Hacettepe University, Sağlık Bilimleri Enstitüsü, Turkey

2014 - 2017

Expertise In Medicine

Hacettepe University, Tıp Fakültesi (Türkçe), Turkey

2007 - 2011

Expertise In Medicine

Diğer (Kurumlar,hastaneler Vb.), Turkey

2000 - 2006

Undergraduate

Hacettepe University, Tıp Fakültesi (Türkçe), Turkey

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

Research Areas Based on Academic Activities

Avesis Research Areas

WoS Research Areas

Scopus Research Areas

Academic Positions

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

2025 - Present

Ethics Committee Member

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

2025 - Present

Postgraduate Education Responsible

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

2024 - Present

Deputy Postgraduate Education Coordinator

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

2023 - Continues

Member of the Faculty Board

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

Doctorate

Translational Medicine

Postgraduate

Developmental Genetics 1

Mendelian Inheritance Patterns

Developmental Genetics

Applications of genetic testing from clinic point of view

Undergraduate

Pediatric Genetics

Translational Medicine

From Genotype to Phenotype

Mendelian Inheritance

Developmental Genetics

Non Mendelian Inheritance

Introduction to Pediatrics

Clinical Cytogenetics

Supervised Theses

in Progress

Postgraduate

Acıbadem Üniversitesi Tıp Fakültesi'nde Kraniosinostoz Kayıt Sisteminin Oluşturulması: Ulusal Kayıt Sistemi için Temel Oluşturma Çalışması (Establishing a Craniosynostosis Registry in Acibadem University School of Medicine, Turkey: A Nucleus for a National Registry

Akgün Doğan Ö. (Advisor)

J.Ceren(Student)

Taught Courses and Trainings

2024 - 2024

Tıbbi Genomikte Varyant Analizi ve Önceliklendirme

Application Research Center - Course

Akgün Doğan Ö., Bilgüvar K., Özdemir Ö.

2024 - 2024

Genetik ve İmmünoloji Kampı

Academic Units - Course

Tahir Turanlı E., Uğurlu S., Akgün Doğan Ö.

2024 - 2024

Hastalar, Hasta Yakınları ve Hasta Derneklerine Yönelik Eğitimler

Academic Units - Training

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

2023 - 2023

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

Academic Units - Course

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

2023 - 2023

Tıbbi Genomikte Varyant Yorumlama ve Önceliklendirme

Application Research Center - Training

Akgün Doğan Ö., Özdemir Ö.

2022 - 2023

Serebral Palsi Sempozyumu

Academic Units - Training

Akgün Doğan Ö.

2022 - 2022

Tıbbi Genomikte Varyant Yorumlama ve Önceliklendirme

Application Research Center - Course

Akgün Doğan Ö.

Research Infrastructure Information

February 2023

İStanbul Tanısız ve Nadir Hastalıklara Çözüm Platformu

Thematic Research Laboratory - Coordinatorship

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

Articles

2026

1. Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis

Ozkose G. S., Topçu Y., Ay B., Özdemir Ö., Akgün Doğan Ö., Hatirnaz Ng Ö., et al.

Clinical Genetics , vol.109, no.1, pp.149-154, 2026 (SCI-Expanded, Scopus)

2025

2. Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia

Guven Tasbicen G., Tufan A., Savsar B., Bulbul A. A., Tonbul Z., Guzel E., et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , vol.26, pp.1-33, 2025 (SCI-Expanded, Scopus)

2025

3. Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.

Ay B., Akgun-Dogan Ö., Taylan F., Marcelis C., Abali S., Lim J. Y., et al.

American journal of medical genetics. Part A , 2025 (SCI-Expanded, Scopus)

2025

4. BCL11B-related disease: a single phenotypic entity?

Vedovato-Dos-Santos J. H., Tooze R. S., Sithambaram S., McCann E., Alanay Y., Dogan Ö., et al.

European journal of human genetics : EJHG , vol.33, no.4, pp.451-460, 2025 (SCI-Expanded, Scopus)

2025

5. Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation

Hasturk B., Agbas A., AKGÜN DOĞAN Ö., Yilmaz E. K., Saygili S., Beser O. F., et al.

PEDIATRIC NEPHROLOGY , 2025 (SCI-Expanded, Scopus)

2025

6. When Neuromotor Delay Meets Thyroid Dysfunction: A Case for Considering Allan-Herndon-Dudley Syndrome Wenn Neuromotorische Entwicklungsverzögerung auf Schilddrüsenfunktionsstörung trifft: Ein Fall für das Allan-Herndon-Dudley-Syndrom

KARAKAŞ H., AKGÜN DOĞAN Ö., Altun I., Velioǧlu Haślak G., Uçar M., TURAN H., et al.

Klinische Padiatrie , 2025 (SCI-Expanded, Scopus)

2025

7. Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition

ÖNDER G., ÖZDEMİR Ö., Taylan F., CANPOLAT C., Yalcin K., Erbey F., et al.

Frontiers in Genetics , vol.16, 2025 (SCI-Expanded, Scopus)

2025

8. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

Kava H., AKGÜN DOĞAN Ö., Yesilyurt A., ALANAY Y., Isik U.

Frontiers in Pediatrics , vol.13, 2025 (SCI-Expanded, Scopus)

2024

9. BCL11B-related disease: a single phenotypic entity?

Vedovato-dos-Santos J. H., Tooze R., Mccann E., Sithambaram S., ALANAY Y., Johnson D., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , pp.1559-1560, 2024 (SCI-Expanded, Scopus)

2024

10. 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.

EUROPEAN JOURNAL OF HUMAN GENETICS , pp.1560, 2024 (SCI-Expanded, Scopus)

2024

11. CFAP99 deficiency leads to heterotaxy and scoliosis

Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.

EUROPEAN JOURNAL OF HUMAN GENETICS , pp.1747-1748, 2024 (SCI-Expanded, Scopus)

2024

12. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders

AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.

EUROPEAN JOURNAL OF HUMAN GENETICS , pp.1172, 2024 (SCI-Expanded, Scopus)

2024

13. Very Early-Onset Schizophrenia with Accompanying Obsessive-Compulsive Symptoms: A Case Report of a Female with 16p13.11 Duplication

Kiziltan K., Kiziltan E. O., Oral E. Y., AKGÜN DOĞAN Ö., Ersoy M., Karacetin G.

PSYCHIATRY AND CLINICAL PSYCHOPHARMACOLOGY , vol.34, no.4, pp.356-357, 2024 (SCI-Expanded, Scopus, TRDizin)

2024

14. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega A. M., Cederroth H., Taylan F., Ekholm K., Ek M., Thonberg H., et al.

NATURE GENETICS , no.11, pp.2287-2294, 2024 (SCI-Expanded, Scopus)

2024

15. 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, Scopus)

2024

16. Real-world experience with vosoritide treatment in achondroplasia: A single-center report from Turkey

ABALI S., Ozkose G. S., AKGÜN DOĞAN Ö., DEMİRCİOĞLU S., ALANAY Y.

HORMONE RESEARCH IN PAEDIATRICS , pp.348-349, 2024 (SCI-Expanded, Scopus)

2024

17. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Guner Yilmaz B., Akgun-Dogan Ö., Ozdemir Ö., Yuksel B., Hatirnaz Ng Ö., Bilguvar K., et al.

Frontiers in pediatrics , vol.12, pp.1412880, 2024 (SCI-Expanded, Scopus)

2024

18. 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, Scopus)

2024

19. 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, Scopus)

2024

20. 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, Scopus, TRDizin)

2024

21. 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, Scopus)

2024

22. 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, Scopus)

2024

23. A rare disease: ZAP70 deficiency

Erdogan S., Cakmak S. C., Atay G., Akkus C. H., Karakayali B., Dogan Ö., et al.

NORTHERN CLINICS OF ISTANBUL , vol.11, no.2, pp.167-170, 2024 (ESCI, Scopus, TRDizin)

2023

24. 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, Scopus)

2023

25. 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, Scopus)

2023

26. 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, Scopus)

2023

27. 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, Scopus)

2023

28. Implication of 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., Saygılı S., et al.

medRxiv : the preprint server for health sciences , 2023 (Peer-Reviewed Journal)

2023

29. 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, Scopus, TRDizin)

2023

30. 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, SSCI, Scopus)

2022

31. 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, Scopus)

2022

32. 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, Scopus)

2022

33. 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 (TRDizin)

2022

34. 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, Scopus)

2022

35. 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 (TRDizin)

2022

36. 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, Scopus)

2022

37. Genetik Hastalık Şüphesi Olan Fetal ve Pediatrik Hastalarda Moleküler Otopsinin Klinik Faydası

AKGÜN DOĞAN Ö., AĞAOĞLU N. B., ALANAY Y.

Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi , vol.11, no.1, pp.82-89, 2022 (TRDizin)

2022

38. 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, Scopus)

2022

39. 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, Scopus)

2022

40. 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, Scopus)

2022

41. 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, TRDizin)

2022

42. 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 (TRDizin)

2021

43. 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

44. 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, Scopus)

2021

45. **Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient**

Agaoglu N. B., Dogan Ö.

MOLECULAR SYNDROMOLOGY , vol.12, no.6, pp.379-385, 2021 (SCI-Expanded, Scopus)

2021

46. 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, Scopus)

2021

47. Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability

TAŞKIRAN Z. E., KARAOSMANOĞLU B., Kosukcu C., Urel-Demir G., AKGÜN DOĞAN Ö., Simsek-Kiper P. o., et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , vol.65, no.6, pp.577-588, 2021 (SSCI, Scopus)

2021

48. 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, Scopus)

2021

49. Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

Ürel-Demir G., Aydln B., KARAOSMANOĞLU B., Akgün-Doǧan Ö., Taşklran E. Z., Şimşek-Kiper P. Ö., et al.

Molecular Syndromology , vol.12, no.2, pp.106-111, 2021 (SCI-Expanded, Scopus)

2021

50. 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, Scopus)

2021

51. 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, Scopus)

2020

52. 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, Scopus)

2020

53. 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, Scopus)

2020

54. Cafe noir spots: a feature of familial progressive hyper- and hypopigmentation

GÜLSEREN D., Guleray N., AKGÜN DOĞAN Ö., Simsek-Kiper P. O., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY , vol.34, no.2, 2020 (SCI-Expanded, Scopus)

2020

55. 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)

2020

56. 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, TRDizin)

2020

57. 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, TRDizin)

2020

58. Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Urel-Demir G., AKGÜN DOĞAN Ö., Oguz S., Guleray-Lafci N., Simsek-Kiper P. O., ÜTİNE G. E., et al.

MOLECULAR SYNDROMOLOGY , vol.11, no.1, pp.38-42, 2020 (SCI-Expanded, Scopus)

2020

59. 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, Scopus, TRDizin)

2019

60. 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, Scopus)

2019

61. 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, Scopus)

2019

62. 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, Scopus)

2019

63. 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, Scopus)

2019

64. 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, Scopus)

2018

65. 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, Scopus)

2018

66. 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, Scopus)

2018

67. The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation

GÜMRÜK F., ÖRGÜL G., AKGÜN DOĞAN Ö., TANAÇAN A., KARAAĞAOĞLU A. E., BEKSAÇ M. S.

Electronic Journal of General Medicine , vol.15, no.4, pp.57-61, 2018 (Scopus)

2018

68. 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, Scopus)

2018

69. 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)

2018

70. Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

ÜTİNE G. E., Simsek-Kiper P. O., Akgun-Dogan Ö., Urel-Demir G., ALANAY Y., Aktas D., et al.

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY , vol.221, pp.76-80, 2018 (SCI-Expanded, Scopus)

2018

71. 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, Scopus, TRDizin)

2017

72. HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., TAŞKIRAN Z. E., Kosukcu C., KARAOSMANOĞLU B., Guleray N., Dogan Ö., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.60, no.5, pp.279-283, 2017 (SCI-Expanded, Scopus)

2017

73. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Dogan Ö., Kiper P. O. S., ÜTİNE G. E., ALİKAŞİFOĞLU M., Boduroglu K.

KOREAN JOURNAL OF FAMILY MEDICINE , vol.38, no.2, pp.102-105, 2017 (ESCI, Scopus)

2017

74. 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, Scopus)

2016

75. 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)

Papers Presented at Peer-Reviewed Scientific Conferences

2025

1. Integrating Standardized Biobanking into Rare Disease Research: Insights from the ACURARE Biobank

Şahim İ., ANTMEN F. M., Erdoğan C., Onder G., Özköse İyigel G. Ş., Yılmaz J. C., et al.

Europe Biobank Week Congress, Bologna, Italy, 13 - 16 May 2025, (Summary Text)

2024

2. Unveiling the Protein Landscape in Cerebral Palsy Through AI-Based Structural Analysis

Özkeserli Z., Yiğit A., Akgün Doğan Ö., Bilgüvar K., Özbek U., Bayram Akçapinar G.

17th The International Symposium on Health Informatics and Bioinformatics, İstanbul, Turkey, 18 - 20 December 2024, pp.161, (Summary Text)

2024

3. EARLY REAL-WORLD EXPERIENCE WITH VOSORITIDE TREATMENT IN ACHONDROPLASIA: A SINGLE-CENTER REPORT FROM TURKEY

Abalı S., Özköse S. G., Akgün Doğan Ö., Semiz S., Alanay Y.

16. International Skeletal Dysplasia Society Meeting, Madrid, Spain, 18 - 21 September 2024, (Summary Text)

2024

4. 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., Alanay Y., Özdemir Ö.

ESHG 2024, Berlin, Germany, 6 - 09 June 2024, pp.1-4, (Summary Text)

2024

5. TREC copy number determination for severecombined immundeficiency disease detection from the Guthrie card

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

Recent Advances in Primary Immunodysregulation Dsorders(RAPID) Meeting, Dukhan, Qatar, 07 May 2024 - 09 May 2025, pp.1-2, (Unpublished)

2024

6. 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, (Unpublished)

2024

7. Functional and structural landscape of Cerebral Palsy (CP) related proteins

Özkeserli Z., Yiğit A., Akgün Doğan Ö., Bilgüvar K., Özbek U., Bayram Akçapınar G.

Applied Bioinformatics in Life Sciences (5th edition), Leuven, Belgium, 7 - 08 March 2024, pp.1, (Summary Text)

2024

8. Hipertrofik Kardiyomiyopatili Hastalarda Genetik Çalışma ne kadar önemli? Pediatrik hastalarda geniş kohort çalışması

Akgün Doğan Ö.

22. Pediyatrik Kardiyoloji ve Kardiyovasküler Cerrahi Kongresi, Antalya, Turkey, 7 - 10 March 2024, (Unpublished)

2023

9. 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, (Full Text)

2023

10. 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, (Full Text)

2023

11. 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, (Full Text)

2023

12. 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, (Summary Text)

2022

13. 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, (Summary Text)

2022

14. 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, (Summary Text)

2022

15. 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, (Unpublished)

2022

16. From patient to function: modeling CRIM1 in xenopus tropicalis

Akgün Doğan Ö.

UDNI Conference, Vienna, Austria, 7 - 08 November 2022, (Unpublished)

2021

17. 5’ Nükleotidaz Eksikliği Gibi Seyreden Nadir Bir Piruvat Kinaz Eksikliği Olgusu

KOÇ B. Ş., YILDIRIM M., tekkeşin f., AYDOĞDU S., AKGÜN DOĞAN Ö., ÇAKI KILIÇ S.

13. Ulusal Pediatrik Hematoloji Kongresi, Antalya, Turkey, 14 October 2021, (Full Text)

2021

18. VERİ ANALİZİ VE YORUMLAMA

AKGÜN DOĞAN Ö.

5.Ulusal Çocuk Genetik Kongresi, Turkey, 07 October 2021, (Full Text)

2021

19. PLIN1 GENİNDE HOMOZİGOT VARYANT SAPTANAN PARSİYEL LİPODİSTROFİ OLGUSU: LİPODİSTROFİNİN NEDENİ Mİ? KLİNİK ÖNEMİ BELİRSİZ VARYANT MI?

KIRMIZIBEKMEZ H., AKGÜN DOĞAN Ö., DİCLE SARGIN I., DURSUN F.

10. ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI SEMPOZYUMU, Turkey, 09 April 2021, (Summary Text)

2021

20. SIRA DIŞI KLİNİK TABLO İLE BAŞVURAN HİPOFOSFATEMİK RİKETS OLGUSUNDA MOLEKÜLER TANININ ÖNEMİ

AKGÜN DOĞAN Ö., KIRMIZIBEKMEZ H., DİCLE SARGIN I., DURSUN F.

10. ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI SEMPOZYUMU, Turkey, 09 April 2021, (Summary Text)

2021

21. NADİR BİR İSKELET DİSPLAZİSİ NEDENİ: WISP3 GENİNDE VARYASYON

DİCLE SARGIN I., KIRMIZIBEKMEZ H., KENDİR DEMİRKOL Y., AKGÜN DOĞAN Ö., DURSUN F.

10. ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI SEMPOZYUMU, Turkey, 09 April 2021, (Full Text)

2021

22. MİKROSEFALİK OSTEODİSPLASTİK PRİMORDİYAL CÜCELİK TİP II: PCNT GENİNDE YENİ MUTASYON

GÜVEN A., aslanger a., AKGÜN DOĞAN Ö.

4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 12 - 13 March 2021, (Full Text)

2020

23. Ehlers Danlos Syndrome Which Was Diagnosed by Evaluating Low Coverage Regions

AĞAOĞLU N. B., AKGÜN DOĞAN Ö.

1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Turkey, 09 January 2020, vol.31, pp.52, (Full Text)

2020

24. POLIKISTIK BÖBREK HASTALIKLARINDA GENETIK YAKLAŞIM

AKGÜN DOĞAN Ö.

UPNAM 3. Nadir Hastalıklar Farkındalık Sempozyumu, İstanbul, Turkey, 27 - 28 February 2020, (Full Text)

2019

25. 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, (Summary Text)

2019

26. 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, (Summary Text)

2019

27. 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, (Summary Text)

2019

28. 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, (Summary Text)

2019

29. Bridging Laboratory to Clinics: Applications of NGS in Rare Diseases and Cancer

AKGÜN DOĞAN Ö., AĞAOĞLU N. B.

7th International Congress of Molecular Biology Association of Turkey, İstanbul, Turkey, 27 - 29 September 2019, (Full Text)

2019

30. Hızlı Tanıda Yeni Nesil Dizilemeyi Nasıl Kullanıyorum

AKGÜN DOĞAN Ö.

4.Ulusal Çocuk Genetik Kongresi, Ankara, Turkey, 25 September 2019, (Full Text)

2019

31. 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, (Summary Text)

2019

32. Melanocortin-4 Receptor Gene Mutations in obese children and adolescents

SEYMEN KARABULUT G., AKGÜN DOĞAN Ö.

uluslararası metabolik hastalıklar ve beslenme kongresi, İstanbul, Turkey, 10 - 12 April 2019, (Full Text)

2019

33. YAYGIN BULGUDAN NADIR HASTALIĞA: 3M SENDROMU

AKGÜN DOĞAN Ö.

UPNAM 2. Nadir Hastalıklar Farkındalık Sempozyumu, İstanbul, Turkey, 28 February 2019, (Full Text)

2017

34. 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, (Summary Text)

2017

35. 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, (Summary Text)

2017

36. 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, (Summary Text)

2017

37. 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, (Summary Text)

Books

2024

1. Kemiğin Genetik Hastalıklarında Yeni Tedaviler - Akondroplazi

Akgün Doğan Ö., Abalı S., Alanay Y.

in: Genetik İskelet Bozuklukları, Hatice Mutlu, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.140-144, 2024

2021

2. Akondroplazi

AKGÜN DOĞAN Ö., ALANAY Y.

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

2021

3. Marfan Sendromu

AKGÜN DOĞAN Ö.

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

2019

4. 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

5. Nörokütanöz Hastalıklar

AKGÜN DOĞAN Ö., BODUROĞLU O. K.

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

Funded Projects

2024 - 2027

Arid1b Ile İlişkili Bozuklukta Gelişimsel İlerleme Alanları - Çok Yöntemli Çok Merkezli Prospektif Doğal Seyir Çalışması

Other International Funding Programs

Akgün Doğan Ö., Sütçübaşı B., Alanay Y.

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 , French National Centre for Scientific Research, CNRS Bilateral Joint Cooperation Program

(Project Abstract)

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

2024 - 2025

Acıbadem Üniversitesi Tıp Fakültesi'nde Kraniosinostoz Kayıt Sisteminin Oluşturulması: Ulusal Kayıt Sistemi için Temel Oluşturma Çalışması (Establishing a Craniosynostosis Registry in Acibadem Universty School of Medicine, Turkey: A Nucleus for a National Registry)

Project Supported by Other Official Institutions

Akgün Doğan Ö. (Executive), Alanay Y., Özek M.

2022 - 2025

Deep-CP: Cerebral Palsy için AlphaFold Kullanarak Derin Öğrenme Varyant Patojenite Tahmin Aracı Geliştirilmesi

TUBITAK Project , 1001 - Program for Supporting Scientific and Technological Research Projects

Bilgüvar K., Bayram Akçapınar G. (Executive), Hatırnaz Ng Ö., Özbek U., Akgün Doğan Ö.

2021 - 2025

Kalıtsal nadir böbrek hastalıklarında yeni genlerin araştırılması

Project Supported by Higher Education Institutions , BAP Research Project

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

2022 - 2024

İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA

Development Agency

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

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 , BAP Research Project

(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 , BAP Other

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 - Present

EUROPEAN JOURNAL OF MEDICAL GENETICS

Assistant Editor/Section Editor

Memberships and Roles in Scientific Organizations

2022 - Continues

European Board of Clinical Genetics

Member

2022 - Continues

Undiagnosed Disease Network International

Country Representative

2019 - Continues

Milli Pediatri Derneği

Member

2019 - Continues

European Society of Human Genetics

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

Roles in Event Organizations

May 2025

Nadir hastalıklarda Biyobanka Kullanımı, Standartların Yaygınlaştırılması ve Analitik Süreçler

Workshop Organization

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

Turkey

September 2024

İkinci Tıbbi Genomikte Genom Varyant Yorumlama ve Önceliklendirme Kursu

Workshop Organization

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

İzmir, Turkey

May 2024

Sağlık Çalışanları İçin Nadir Hastalıklar Alanında Genetik Danışmanlık Eğitimi

Workshop Organization

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

Turkey

April 2024

Hastalar, Hasta Yakınları ve Hasta Derneklerine Yönelik Eğitimler

Workshop Organization

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

Turkey

November 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

13 February 2025 - 15 February 2025

6. Ege Endokrin Hastalıklar ve Genetik Sempozyumu

Invited Speaker

İzmir-Turkey

25 November 2024 - 27 November 2024

Işıl Berat Barlan Akademisi Doğuştan Bağışıklık Kusurları Uluslararası Ustalık Okulu İnterdisipliner Tanısal Yaklaşım

Invited Speaker

İzmir-Turkey

27 September 2024 - 28 September 2024

III.Genetik ve İmmünoloji Kampı

Invited Speaker

İstanbul-Turkey

18 September 2024 - 21 September 2024

ISDS-international skeletal dysplasia society meeting 2024

Attendee

Madrid-Spain

19 April 2024 - 21 April 2024

Çocuk Genetik Hastalıkları Sempozyumu

Invited Speaker

Diyarbakır-Turkey

07 March 2024 - 10 March 2024

22. Ulusal Pediatrik Kardiyoloji ve Kalp Cerrahisi Kongresi

Invited Speaker

Antalya-Turkey

07 March 2024 - 14 March 2024

22. Ulusal Pediatrik Kardiyoloji ve Kalp Cerrahisi Kongresi

Invited Speaker

Antalya-Turkey

04 March 2024 - 06 March 2024

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

Invited Speaker

Rome-Italy

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

November 2024

Basics of Genetic reporting , genetic report reading and interpretation

Conference

İzmir biyoteknoloji ve genom merkezi,Doğuştan Bağışıklık Kusurları Uluslararası Ustalık Okulu İnterdisipliner Tanısal Yaklaşım-Turkey

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

Zihinsel Yetersizlikte RNA ve Epigenetik/ 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

November 2023

NGS Veri Analizi/6. Çocuk Genetik Ulusal Kongresi

Conference

Çocuk Genetik Hastalıkları Derneği-Turkey

November 2023

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

Conference

Undiagnosed Diseases Network International -Georgia

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 (SCOPUS): 231

h-index (SCOPUS): 8

Jury Memberships

October-2024

October 2024

Doctorate

Alper Akkuş- Doktora tez savunma sınavı - Acıbadem Mehmet Ali Aydınlar Üniversitesi

April-2024

April 2024

PhD Thesis Monitoring Committee Member

Gülipek Güven Doktora Tez İzlem Komitesi - 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