Research Interests

Prof. Uğur Özbek

Uğur Özbek graduated from Istanbul University, Cerrahpaşa Faculty of Medicine in 1986. He received a Ph.D. degree in Cancer Genetics at Oncology Institute, Istanbul University in 1995. He also received Medical Genetics Specialization at the same University in 2006.

He worked at Gaslini Institue, Genoa in 1994 for molecular defects in Neuroblastoma and later at St. Gerardo Hospital, Milan in 1996 for molecular diagnostics of pediatric leukemias. During the years 1998-2000, he worked at St. Jude Children’s Research Hospital, Genetics Department in Memphis as a post-doctoral research fellow on molecular genetics of leukemogenesis. In 1997 he became an Associate Professor in Basic Oncology and in 2003 he became a full Professor in Genetics. He has been awarded the Querido Chair professorship at Erasmus University Medical Faculty, given on behalf of its founder A. Querido. Entitled by this award, he has given lectures on “Migration, health and genetics” at Erasmus University in Rotterdam, the Netherlands, for the periods of 2006-2007.

He worked as a faculty member at Istanbul University Institute of Experimental Medicine, Genetics Department between 1994-2016. During this period, he pursued duties that consist of being a member in the Forensic Medicine Council, as a consultant in the Forensic Biology Department; as a faculty member and director of Istanbul University Health Sciences Institute Genetics Graduate Program and as the director of the Institute of Experimental Medicine, Istanbul University. He started to work at Istanbul Acıbadem University, School of Medicine in 2016. Currently, he is serving as director of the Health Sciences Institute and chair of the Medical Genetics Department. In 2017 he has been established, the first in kind, the Center for Rare and Undiagnosed Diseases at Acibadem University. He has been working as a scientific advisory committee member at the Health Institutes of Turkey (TUSEB) since 2016. He is also the national coordinator for Orphanet in Turkey since 2006. As of 2022, H-index: 37 (230 publications in WoS, 4730 citations).

His research interests include delineation of the genetics and molecular biological mechanisms underlying childhood and adult hereditary cancers and rare/undiagnosed diseases.
 

Yasemin Alanay, M.D., Ph.D.

  • Rare / Undiagnosed Diseases
  • Individualized Genomic Diagnosis
  • Deep phenotyping
  • Genetic diseases of bone
  • Cerebral palsy and neurodevelopmental diseases
  • Craniofacial malformations

Next-generation sequencing has revolutionized the diagnostic process in clinical genetics, ending the “diagnostic Odyses” for many families. Genomic treatments are on the horizon. Alanay Research Group, aims to translate research questions from the clinic/bed-side to the laboratory in research areas of our interest. Our team: Yasemin Alanay, M.D., Ph.D. (Pediatric Geneticist) Özlem Akgün Doğan, M.D., Ph.D. (Pediatric Geneticist)

Recent Publications:

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J.Lancet. 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5.PMID: 32891212 Clinical Trial.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P.Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28.PMID: 32860008 Free PMC article.
 

Prof. Dr. Eda Tahir Turanli

Eda Tahir Turanlı is a Professor at Acıbadem University, Department of Molecular Biology and Genetics (MBG), Istanbul, Turkey. She received her BSc from Nottingham University, Queen's Medical Hospital, Department of Genetics (1994), and her MSc from London University, Imperial College of Science and Technology, St Mary's Medical School (1995). She received her doctorate degree from Marmara University, Institute of Health Sciences, Department of Medical Biology and Genetics in 2000. Tahir Turanlı's research interests include genetic and epigenetic mechanisms of rare and complex inherited diseases, especially autoinflammatory and neurodegenerative diseases.

Active Research Projects: Novel susceptibility genes identification in familial Multiple Sclerosis and in autoinflammatory disease; Developing and investigating the functionality of the genetic variants in cell culture models

Related Publications :

Mohammad Ahangari , Elif Everest , Tan-Hoang Nguyen , Brian C Verrelli , Bradley T Webb , Silviu-Alin Bacanu , Eda Tahir Turanli , Brien P Riley. Genome-wide analysis of schizophrenia and multiple sclerosis identifies shared genomic loci with mixed direction of effects. Brain Behav Immun. 2022 Jun 14;104:183-190. doi: 10.1016/j.bbi.2022.06.007 Timucin Avsar, İlknur Melis Durası, Uğur Uygunoğlu, Melih Tütüncü, Nuri Onat Demirci, Sabahattin Saip, O. Uğur Sezerman, Aksel Siva and Eda Tahir Turanlı. CSF Proteomics Identifies Specific and Shared Pathways for Multiple Sclerosis Clinical Subtypes. PLOS ONE DOI:10.1371/journal.pone.0122045, pages 1-18, Ommar Omarjee, Anne-Laure Mathieu, Gaelle Quiniou, Marion Moreews, Michelle Ainouze, Cecile Frachette, Isabelle Melki, Cecile Dumaine, Mathieu Gerfaud Valentin, Agnes Duquesne, Tilmann Kallinich, Eda Tahir Turanli, Christophe Malcus, Sébastien Viel, Rémi Pescarmona, Sophie Georgin-lavialle, Yvan Jamilloux, Jean Paul Larbre, Guillaume Sarrabay, Flora Magnotti, Gillian Rice, Francoise Bleicher, Jonathan Reboulet, Samir Merabet, Thomas Henry, Yanick Crow, Mathias Faure, Thierry Walzer, and Alexandre Belot. LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages. Journal of Experimental Medicine, 2021, (218):3, e20201006 Ilker Karacan, Serdal Ugurlu, Sezgin Sahin, Elif Everest, Ozgur Kasapcopur, Aslihan Tolun, Huri Ozdogan, Eda Tahir Turanli. LACC1 Gene Defects in Familial Form of Juvenile Arthritis. Journal of Rheumatology. J Rheumatol 2018;45;726-728.

Karacan İ, Uğurlu S, Tolun A, Eda Tahir Turanli, Ozdogan H. Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clin Exp Rheumatol. 2017 35 Suppl 108(6):75-81 Celikyapi Erdem, Gokce; Erdemir, Sule; Abaci, Irem; Kirectepe Aydin, Asli K; Everest, E; Eda Tahir Turanli. Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models. Genetics and Molecular Biology. 2017 Jul-Sep;40(3):688-697
 

Assoc. Prof. Cemaliye Akyerli Boylu

Cemaliye Akyerli Boylu received her undergraduate degree from Hacettepe University, Faculty of Science, Department of Biology in 1996. Then, she completed her master's degree in 1998 and her doctorate in 2004 at İhsan Doğramacı Bilkent University, Faculty of Science, Department of Molecular Biology and Genetics. During her PhD studies, she worked as a researcher at the Cleveland Clinic, Lerner Research Institute, Department of Cancer Biology with a NATO A2 scholarship. She has been working at Acıbadem University, School of Medicine, Department of Medical Biology since 2009. Her main research areas can be summarized as cancer genetics. Her recent studies are investigating the effects of nuclear genome and mtDNA variations as molecular markers on disease biology in Gliomas and Breast Cancer.

Recent Publications

  • Yüksel Kılıçturgay Şirin, Özduman Koray, Yılmaz Engin, Pamir Mustafa Necmettin, Akyerli Boylu Cemaliye (2021) “Analysis of mitochondrial DNA control region D-loop in gliomas: result of 52 patients” Turkish Neurosurgery 31(3): 368-372 http://dx.doi.org/10.5137/1019-5149.jtn.29805-202
  • Ülgen Ege, Can Özge, Bilguvar Kaya, Akyerli Boylu Cemaliye, Yüksel Şirin, Erşen Danyeli Ayça, Sezerman Osman Uğur, Yakıcıer Mustafa Cengiz, Pamir Mustafa Necmettin, Özduman Koray (2021) “Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma” BMC Medical Genomics 14:54 doi.org/10.1186/s12920-021-00904-3
  • Ülgen Ege, Karacan Sıla, Gerlevik Umut, Can Özge, Bilguvar Kaya, Oktay Yavuz, Akyerli Boylu Cemaliye, Yüksel Şirin, Erşen Danyeli Ayça, Tihan Tarik, Sezerman Osman Uğur, Yakıcıer Mustafa Cengiz, Pamir Mustafa Necmettin, Özduman Koray (2020) “Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms” Biomedicines 8:574 doi.org/10.3390/biomedicines8120574
  • Akyerli Boylu Cemaliye, Yüksel Şirin, Yakıcıer Mustafa Cengiz (2020) "Lack of hotspot mutations other than TP53 R249S in aflatoxin B1 associated hepatocellular carcinoma " Turkish Journal of Biochemistry 45 (4): 451-453 http://dx.doi.org/10.1515/tjb-2020-0003
  • S. Dalva-Aydemir, C.B. Akyerli, Ş.K. Yüksel, H. Keskin, M.C. Yakıcıer (2019) "Toward In Vitro Epigenetic Drug Design for Thyroid Cancer: The Promise of PF-03814735, an Aurora Kinase Inhibitor" OMICS. 2019 Oct;23(10):486-495. doi: 10.1089/omi.2019.0050.
  • E. Ülgen, Ö. Can, K. Bilguvar, Y. Oktay, C.B. Akyerli, A.E. Danyeli, M.C. Yakıcıer, O.U. Sezerman, M.N. Pamir, K. Özduman (2019) "Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas" Journal of Neurosurgery 2019 Apr 5:1-12. doi: 10.3171/2019.1.JNS182938.
  • Şirin Yüksel, Cemaliye Boylu Akyerli, M. Cengiz Yakıcıer. (2017) “Angiogenesis, Invasion, and Metastasis Characteristics of Hepatocellular Carcinoma” “J Gastrointest Cancer” 48: 256–259
  • Cemaliye B. Akyerli, Şirin Yüksel, Özge Can, E. Zeynep Erson-Omay, Yavuz Oktay, Erdal Coşgun, Ege Ülgen, Yiğit Erdemgil, Aydın Sav, Andreas von Deimling, Murat Günel, M. Cengiz Yakıcıer, M. Necmettin Pamir, Koray Özduman. (2017) “Use of Telomerase Promoter Mutations to Mark Specific Molecular Subsets with Reciprocal Clinical Behavior in IDH Mutant and IDH Wild-Type Diffuse Gliomas” “Journal of Neurosurgery” 16973: 1-13
  • Y. Oktay, E. Ulgen, O. Can, C. B. Akyerli, S. Yuksel, Y. Erdemgil, I. M. Durasi, O. I. Henegariu, E. P. Nanni, N. Selevsek, J. Grossmann, E. Z. Erson-Omay, H. W. Bai, M. Gupta, W. Lee, S. Turcan, A. Ozpinar, J. T. Huse, M. A. Sav, A. Flanagan, M. Gunel, O. U. Sezerman, M. C. Yakicier, M. N. Pamir, K. Ozduman. (2016) “IDH-Mutant Glioma Specific Association of Rs55705857 Located at 8q24.21 Involves Myc Deregulation” “Scientific Reports” 6: 1-14
     

Dr. Kaya Bilguvar

Dr. Kaya Bilguvar has been working in the field of human genetics for over 20 years. In the summer of 2021, he returned to Turkey and started working at Acibadem Mehmet Ali Aydinlar University School of Medicine, Department of Medical Genetics, along with Health Sciences Institute, Departments of Genome Studies and Translational Medicine, and ACURARE. In addition, he holds an adjunct professor position at Yale University School of Medicine, Departments of Neurosurgery and Genetics where he has been conducting research studies since 2005. His major research interests include the identification of genetic bases of human diseases affecting the structure and function of the nervous system, and elucidation of underlying disrupted biological processes using patient-derived 2D and 3D induced neuronal systems. His latest efforts are concentrated on the studies of cortical malformations, schizophrenia, early-onset neurodegenerative syndromes and migraine. From 2013 to 2021, he also served, first as associate director then as the director of the Yale Center for Genome Analysis where he contributed to many large-scale human genetics efforts along with the development of diagnostic applications utilizing next-generation omics technologies.
 

Assist Prof. Onur Emre Onat

Dr. Onur Emre Onat is an Assistant Professor at Acıbadem University, Institute of Health Sciences, Departments of Translational Medicine and Genome Studies.

Dr. Onat graduated from Boğaziçi University, Department of Molecular Biology and Genetics in 2004. Between 2004 and 2012, he researched the causes of rare diseases during his master’s and doctoral studies at Bilkent University, Department of Molecular Biology and Genetics. The main research area in this process was on the discovery of disease-causing genes of a cerebellar hypoplasia (CAMRQ) that is notable for walking on all fours in humans. After his doctorate education, he focused on unraveling the molecular mechanism of the "hunger/satiety" feeling regulated by neurons in the hypothalamus region of the brain in a collaborative project between Rockefeller and Bilkent Universities co-directed by Drs. Jeffrey Friedman, the discoverer of the hormone leptin and the winner of the Lasker award and Tayfun Özçelik, TUBITAK science award winner. During this period, he focused on diseases with complex inheritance and took part in establishing a comprehensive DNA bank and genome database. In this context, he continued his studies on the discovery of genes for metabolic diseases such as familial obesity, extreme leanness, and polycystic ovarian syndrome, neurodegenerative diseases such as essential tremor and Parkinson's, and psychiatric and behavioral phenotypes associated with circadian rhythms such as delayed sleep phase and attention deficit and hyperactivity disorder.

The main focus of Onat Lab is to contribute to the genetic etiologies of human diseases and the enhancing precision medicine by developing new analysis methods and algorithms to investigate disease-causing mutations and genes by comparing next-generation sequencing genomic data of patients with control individuals or unaffected family members. For this, we apply and combine computational biology approaches such as bioinformatics, statistical genomics, biological databases, network modelings, machine learning, population genetics, with molecular cytogenetic approaches such as homozygosity mapping, linkage analysis, SNP genotyping, and with various molecular biology approaches.
 

Dr. Öğr. Üyesi Özlem Akgün Doğan

Dr. Özlem Akgün Doğan graduated from Hacettepe University Faculty of Medicine in 2006. Between 2007 and 2012, she did a pediatrics residency at Ankara Sami Ulus Gynecology, Child Health and Diseases Training and Research Hospital. Between 2014-2018, she completed her fellowship at Hacettepe University, Department of Pediatric Genetics. During her 3-year period as a Pediatric Geneticist at Istanbul Umraniye Training and Research Hospital, she took part in the deep phenotyping of individuals affected by pediatric rare diseases, evaluating the underlying molecular pathologies through next-generation sequencing analysis and reporting the results. Beginning to work as a faculty member at Acıbadem University Faculty of Medicine in 2021, Dr. Akgun-Dogan carried out research on the project titled "Investigation of the functions of candidate genes determined by whole exome sequence analysis in a group of congenital malformations by using CRISPR / CAS9 gene regulation technology in a Xenopus frog model" within the scope of Fulbright Academic Research Scholarship between 2021-2022. Dr. Akgun-Dogan's areas of research interest are childhood rare diseases, multiple congenital anomalies, dysmorphology, and clinical genetics.

Related Publications :

  1. AĞAOĞLU NİHAT BUĞRA, ÜNAL BÜŞRA, AKGÜN DOĞAN ÖZLEM, ZOLFAGHARIAN PAYAM, SHARIFLI PARI, KARAKURT AYLİN, ŞENAY BURAK CAN, KIZILBOĞA AKGÜN TUĞBA, YILDIZ JALE, DİNLER DOĞANAY GİZEM, DOĞANAY HAMDİ LEVENT (2022). Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 22(2), 239-246., Doi: 10.1080/14737159.2022.2048373 (Yayın No: 7643879)
  2. AĞAOĞLU NİHAT BUĞRA, ÜNAL BÜŞRA, AKGÜN DOĞAN ÖZLEM, KANEV MARTIN ORLINOV, ZOLFAGHARIAN PAYAM, ÖZEMRİ SAĞ ŞEBNEM, TEMEL ŞEHİME GÜLSÜN, DOĞANAY HAMDİ LEVENT (2022). Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels. EUROPEAN JOURNAL OF HUMAN GENETICS, 30(1), 378-383., Doi: 10.1038/s41431-022-01060-7 (Yayın No: 7594751)
  3. AĞAOĞLU NİHAT BUĞRA, YILDIZ JALE, AKGÜN DOĞAN ÖZLEM, KÖSE BETSİ, ALKURT GIZEM, KENDİR DEMİRKOL YASEMİN, İRVEM ARZU, DOĞANAY HAMDİ LEVENT, DİNLER DOĞANAY GİZEM (2022). COVID-19 PCR test performance on samples stored at ambient temperature. Journal of Virological Methods, 301, Doi: 10.1016/j.jviromet.2021.114404 (Yayın No: 7547586)
    1. KIRMIZIBEKMEZ HEVES, AKGÜN DOĞAN ÖZLEM, KENDİR DEMİRKOL YASEMİN, SEYMEN KARABULUT GÜLCAN, İNAN BALCI ELİF, ATLA PINAR, DURSUN FATMA (2022). Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene. Journal of Pediatric Endocrinology and Metabolism, 0, Doi: 10.1515/jpem-2021-0756 (Yayın 2 Uluslararası hakemli dergilerde yayımlanan makaleler: No: 7676776)
  4. KARAKÖK BURAK, AKDEMİR DEVRİM, YALÇIN SIDDIKA, ÖZUSTA HACER ŞENİZ, ÜTİNE GÜLEN EDA, AKGÜN DOĞAN ÖZLEM, ŞİMŞEK KİPER PELİN ÖZLEM, ÜREL DEMİR GİZEM (2021). Turner Sendromlu Ergenlerin Multidisipliner Yaklaşımla Psikometrik ve Psikososyal Açıdan Değerlendirilmesi: Ön Çalışma. Güncel Pediatri, 19(3), 363-372., Doi: 10.4274/jcp.2021.04864 (Yayın No: 7647410)
  5. İRVEM ARZU, SARMIŞ ABDURRAHMAN, AKGÜN DOĞAN ÖZLEM, YILDIZ JALE, HABİP ZAFER, AĞAOĞLU NİHAT BUĞRA, KÖSE BETSI, ALKURT GIZEM, ALTUNAL LÜTFIYE NILSU, ÖZEL AYŞE SERRA, AYDIN MEHTAP, DERELİ BULUT SAFİYE SANEM, KENDİR DEMİRKOL YASEMİN, KOÇOĞLU MÜCAHİDE ESRA, DİNLER DOĞANAY GİZEM, DOĞANAY HAMDİ LEVENT, BÜKTE YAŞAR, AKSARAY SEBAHAT (2021). Investigation of association between ABO blood groups and COVID-19 clinical severity. Medical Science and Discovery, 8(12), 671-674., Doi: 10.36472/msd.v8i12.550 (Yayın No: 7506034)
  6. SÖZERİ BETÜL, DEMİR FERHAT, SÖNMEZ HAFİZE EMİNE, KARADAĞ ŞERİFE GÜL, KENDİR DEMİRKOL YASEMİN, AKGÜN DOĞAN ÖZLEM, DOĞANAY HAMDİ LEVENT, AKTAY AYAZ NURAY (2021). Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases. Clinical Rheumatology, 40, Doi: 10.1007/s10067-020-05492-8 (Yayın No: 7431849)
  7. AKGÜN DOĞAN ÖZLEM, AĞAOĞLU NİHAT BUĞRA, KENDİR DEMİRKOL YASEMİN, DOĞANAY HAMDİ LEVENT, ERGÜL YAKUP, KARACAN MEHMET (2021). Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. Journal of Cardiovascular Electrophysiology, 33(2), Doi: 10.1111/jce.15306 (Yayın No: 7547581)
  8. TAŞKIRAN ZİHNİ EKİM, KARAOSMANOĞLU BEREN, KOŞUKCU CAN, ÜREL DEMİR GİZEM, AKGÜN DOĞAN ÖZLEM, ŞİMŞEK KİPER PELİN ÖZLEM, ALİKAŞİFOĞLU MEHMET, BODUROĞLU OSMAN KORAY, ÜTİNE GÜLEN EDA (2021). Diagnostic yield of whole exome sequencing in nonsyndromic intellectual disability. Journal of Intellectual Disability Research, 65, 577-588., Doi: 10.1111/jir.12835 (Yayın No: 7397119)
  9. AKGÜN DOĞAN ÖZLEM, KÖSE BETSI, AĞAOĞLU NİHAT BUĞRA, YILDIZ JALE, ALKURT GIZEM, KENDİR DEMİRKOL YASEMİN, İRVEM ARZU, DİNLER DOĞANAY GİZEM, DOĞANAY HAMDİ LEVENT (2020). Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oronasopharyngeal swabs. Journal of Virological Methods, 30(290), 1-5., Doi: 10.1016/j.jviromet.2020.114049 (Yayın No: 6893417)
  10. DEMİR FERHAT, AKGÜN DOĞAN ÖZLEM, KENDİR DEMİRKOL YASEMİN, ERMİŞ TEKKUŞ KÜBRA, CANBEK SEZİN, KARADAĞ ŞERİFE GÜL, SÖNMEZ HAFİZE EMİNE, AKTAY AYAZ NURAY, DOĞANAY HAMDİ LEVENT, SÖZERİ BETÜL (2020). Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases. Clinical Rheumatology, 39(12), 3733-3745., Doi: 10.1007/s10067-020-05108-1 (Yayın No: 7062831)
  11. DEMİR FERHAT, BOLAÇ GIZEM LEYLA, MERTER TUBA, CANBEK SEZİN, AKGÜN DOĞAN ÖZLEM, KENDİR DEMİRKOL YASEMİN, YILDIZ JALE, DOĞANAY HAMDİ LEVENT, SÖZERİ BETÜL (2020). The musculoskeletal system manifestations in children with familial Mediterranean fever. NORTHERN CLINICS OF ISTANBUL, 7(5), 438-442., Doi: 10.14744/nci.2020.96636 (Yayın No: 7594862)
  12. GÜNDÜZ TUNCAY, KENDİR DEMİRKOL YASEMİN, AKGÜN DOĞAN ÖZLEM, DEMİR SERKAN, AKÇAKAYA NİHAN HANDE (2019). A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation. JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(11), Doi: 10.1016/j.jstrokecerebrovasdis.2019.104354 (Yayın No: 7644378)
  13. GÜMRÜK FATMA, ÖRGÜL GÖKÇEN, AKGÜN DOĞAN ÖZLEM, TANAÇAN ATAKAN, KARAAĞAOĞLU AHMET ERGUN, BEKSAÇ MEHMET SİNAN (2018). The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation. Electronic Journal of General Medicine, 15(4), 57-61., Doi: 10.29333/ejgm/89674 (Yayın No: 7594742)
  14. AKGÜN DOĞAN ÖZLEM, ÜREL DEMİR GİZEM,ARSLAN UMUT,ŞİMŞEK KİPER PELİN ÖZLEM,ÜTİNE GÜLEN EDA,ALİKAŞİFOĞLU MEHMET,BODUROĞLU OSMAN KORAY (2018). Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center. American Journal of Perinatology, 35(05), 427-433., Doi: 10.1055/s-0037-1608632 (Yayın No: 4005529)
  15. AKGÜN DOĞAN ÖZLEM, TOPÇU SEDA,TANIR NACİYE GÖNÜL (2018). Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey. The Journal of Pediatric Research, 5(3), 11-16., Doi: 10.4274/jpr.03274 (Yayın No: 4229903)
  16. ÜTİNE GÜLEN EDA, ŞİMŞEK KİPER PELİN ÖZLEM, AKGÜN DOĞAN ÖZLEM,ÜREL DEMİR GİZEM,ALANAY YASEMİN,aktaş dilek,BODUROĞLU OSMAN KORAY,tunçbilek ergül,ALİKAŞİFOĞLU 3 Uluslararası hakemli dergilerde yayımlanan makaleler: (2018). Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry. European Journal of Obstetrics Gynecology and Reproductive Biology, 221, 76-80., Doi: 10.1016/j.ejogrb.2017.12.028 (Yayın No: 4005239)
  17. TAŞKIRAN ZİHNİ EKİM, KARAOSMANOĞLU BEREN,KOŞUKCU CAN,AKGÜN DOĞAN ÖZLEM,TAYLAN ŞEKEROĞLU HANDE,ŞİMŞEK KİPER PELİN ÖZLEM,ÜTİNE GÜLEN EDA,BODUROĞLU OSMAN KORAY,ALİKAŞİFOĞLU MEHMET (2017). Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome. American Journal of Medical Genetics Part A, 173(12), 3143- 3152., Doi: 10.1002/ajmg.a.38495 (Yayın No: 4005563)
  18. ÜTİNE GÜLEN EDA, TAŞKIRAN ZİHNİ EKİM, KOŞUKCU CAN, KARAOSMANOĞLU BEREN, GÜLERAY LAFCI NAZ, AKGÜN DOĞAN ÖZLEM, ŞİMŞEK KİPER PELİN ÖZLEM, BODUROĞLU OSMAN KORAY, ALİKAŞİFOĞLU MEHMET (2017). HERC1 mutations in idiopathic intellectual disability. EUROPEAN JOURNAL OF MEDICAL GENETICS, 60(5), 279-283., Doi: 10.1016/j.ejmg.2017.03.007 (Yayın No: 7594763)
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