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Ö. Doğan · SciRah

Researcher profile · Semantic Scholar

Ö. Doğan

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Ö. Doğan — researcher profile on SciRah

h-index: 6
Works: 19
Citations: 134

Most-cited papers

HERC1 mutations in idiopathic intellectual disability.
G. Utine, E. Taşkıran, C. Koşukcu, B. Karaosmanoğlu +5 more
2017European Journal of Medical Genetics41 citations
Semantic Scholar
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases
F. Demir, Ö. Doğan, Y. Demirkol, Kübra Ermiş Tekkuş +6 more
2020Clinical Rheumatology20 citations
Semantic Scholar
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases
B. Sözeri, F. Demir, H. Sönmez, Ş. G. Karadağ +4 more
2020Clinical Rheumatology16 citations
Semantic Scholar
Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome
E. Taşkıran, B. Karaosmanoğlu, C. Koşukcu, Ö. Doğan +5 more
2017American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Peters Plus syndrome: a recognizable clinical entity.
Gizem Ürel Demir, N. G. Lafcı, Ö. Doğan, P. O. Simsek-Kiper +1 more
2020Turkish Journal of Pediatrics10 citations Open access
Semantic Scholar
A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation.
Tuncay Gündüz, Y. Demirkol, Ö. Doğan, S. Demir +1 more
2019Journal of Stroke & Cerebrovascular Diseases7 citations
Semantic Scholar
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
K. Riedhammer, Thanh-Minh T. Nguyen, C. Koşukcu, J. Calzada-Wack +56 more
2023Kidney International6 citations Open access
Semantic Scholar
Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus
Ömer Güran, Serçin Güven, H. Kırmızıbekmez, Ö. Doğan +1 more
2023Journal of Clinical Research in Pediatric Endocrinology4 citations Open access
Semantic Scholar
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)
S. Saygılı, C. Koşukcu, T. Baştuğ, Ö. Doğan +6 more
2023Clinical Genetics4 citations
Semantic Scholar
Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants
Fatma Güliz Atmaca, Ö. Doğan, Büşra Kutlubay, H. Kırmızıbekmez
2024Journal of Clinical Research in Pediatric Endocrinology3 citations Open access
Semantic Scholar
Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromized Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey
Ö. Doğan, Seda Okur, N. Tanır
20182 citations Open access
Semantic Scholar
Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development
Gizem Ürel Demir, Ö. Doğan, P. Ö. Şimşek Kiper, G. Utine +3 more
2017Fetal and Pediatric Pathology2 citations
Semantic Scholar
Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
Ayca Yigit, Mert Pekerbaş, Barış Salman, Kutay Bulut +57 more
2026European Journal of Human Genetics1 citations Open access
Semantic Scholar
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
K. Riedhammer, Thanh-Minh T. Nguyen, C. Koşukcu, J. Calzada-Wack +48 more
2023medRxiv1 citations Open access
Semantic Scholar
Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study
Burak Karakok, D. Akdemir, S. Yalçın, Hacer Seniz Özusta +4 more
2021Güncel Pediatri1 citations Open access
Semantic Scholar
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome
Ö. Doğan, P. Ö. Şimşek Kiper, G. Utine, M. Alikaşifoğlu +1 more
2017Korean Journal of Family Medicine1 citations Open access
Semantic Scholar
Investigation of association between ABO blood groups and COVID-19 clinical severity
Arzu Irvem, A. Sarmış, Ö. Doğan, J. Yıldız +14 more
2021Medical Science and Discovery0 citations Open access
Semantic Scholar
FRI0556 GENETIC SCREENING IN PATIENTS WITH UNDIFFERENTIATED PERIODIC FEVER SYNDROME
F. Demir, Ö. Doğan, Yasemin Kendirci, Kübra Ermiş Tekkuş +4 more
2019Paediatric rheumatology0 citations Open access
Semantic Scholar
SAT0483 COMPARISON OF THE CLINICAL DIAGNOSTIC CRITERIA AND RESULTS OF THE NEXT GENERATION SEQUENCE GENE PANEL IN PATIENTS WITH PERIODIC FEVER
F. Demir, Y. Demirkol, Ö. Doğan, Sezin Canbek +4 more
2019Saturday, 15 June 20190 citations Open access
Semantic Scholar

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G. Utine — researcher profile on SciRah
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