Education Information
2002 - 2008
2002 - 2008Doctorate
Boğaziçi Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik, Turkey
2000 - 2002
2000 - 2002Postgraduate
Boğaziçi Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik, Turkey
1996 - 2000
1996 - 2000Undergraduate
Boğaziçi Üniversitesi, Fen Edebiyat Fakültesi, Moleküler Biyoloji Ve Genetik, Turkey
Dissertations
2008
2008Doctorate
GENOM TARAMASINDAN HASTALIK GENİ TANIMLANMASINA
Bogazici University, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik
2002
2002Postgraduate
BEŞ KALITSAL HASTALIKTA LOKUS VE GEN ANALİZI
Bogazici University, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik
Foreign Languages
C1 Advanced
C1 AdvancedEnglish
Certificates, Courses and Trainings
2013
2013Avrupa Birliği Projeleri Proje Yönetimi Sertifikası (Zertifizierter EU Project Manager 2013) European Certification and Qualification Association (Avusturya)
Education Management and Planning
AB Ofisi
Research Areas
Life Sciences, Bioinformatics, Molecular Biology and Genetics, Genetic Disorders, Genomics, Neurobiology, Natural Sciences
Academic Titles / Tasks
2019 - Continues
2019 - ContinuesProfessor
Istanbul University, Aziz Sancar Institute Of Experimental Medicine, Department Of Genetics
2013 - 2019
2013 - 2019Associate Professor
Istanbul University, Aziz Sancar Institute Of Experimental Medicine, Department Of Genetics
2008 - 2009
2008 - 2009Research Assistant PhD
University Of Oxford, Department Of Physiology, Anatomy And Genetics, Department Of Physiology, Anatomy And Genetics
2002 - 2008
2002 - 2008Research Assistant
Boğaziçi Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik
Courses
Advising Theses
2019
2019Postgraduate
Progresif Miyoklonik Epilepsilerde Tüm Ekzom Dizileme Yöntemi ile İlişkili Genlerinin Araştırılması
UĞUR İŞERİ S. A.
G.Haryanyan(Student)
2019
2019Doctorate
Zihinsel yetmezlik ile ilişkili yeni gen varyantlarının araştırılması
UĞUR İŞERİ S. A.
F.Yeşim(Student)
2019
2019Doctorate
Beyinde Demir Birikimi ile Nörodejenerasyon Hastalığından Sorumlu Yeni Gen Varyantlarının Arsatırılması
UĞUR İŞERİ S. A.
N.Hande(Student)
2018
2018Postgraduate
GLUT1 Eksikliği Sendromunda Genetik Analizler
UĞUR İŞERİ S. A.
C.Örnek(Student)
2017
2017Doctorate
Febril Nöbet Sonrası Epileptogenez Sürecinin Araştırılması
UĞUR İŞERİ S. A.
Ö.Özdemir(Student)
2014
2014Postgraduate
İnsan genomundaki kopya sayısı değişikliklerinin SNP array yöntemi kullanılarak incelenmesi ve tespit edilen değişikliklerin validasyonu
UĞUR İŞERİ S. A.
F.Yeşim(Student)
Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes
2021
2021The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G., Ozdemir O., Tutkavul K., Dervent A., Ayta S., ÖZKARA Ç., et al.
Journal of human genetics, 2021 (Journal Indexed in SCI Expanded)
2020
2020Effect of the brain-derived neurotrophic factor gene Val66Met polymorphism on sensory-motor integration during a complex motor learning exercise.
Deveci S., Matur Z., Kesim Y., Senturk Ş., Sargın-Kurt G., Ugur U. , et al.
Brain research, vol.1732, pp.146652, 2020 (Journal Indexed in SCI Expanded)
2019
2019Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability
Iseri S. A. , YÜCESAN E., Tuncer F. N. , Calik M., Kesim Y., Uzun G. A. , et al.
JOURNAL OF HUMAN GENETICS, vol.64, no.5, pp.421-426, 2019 (Journal Indexed in SCI)
2019
2019A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
Akcakaya N. H. , Salman B., Gormez Z. , Arguden Y. T. , Cirakoglu A. , Cakmur R., et al.
Neuromolecular medicine, vol.21, no.1, pp.54-59, 2019 (Journal Indexed in SCI Expanded)
2019
2019Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach
OZDEMIR O., EGEMEN E., Ugur I. , SEZERMAN O., Bebek N. , Baykan B. , et al.
PLOS ONE, vol.14, no.2, 2019 (Journal Indexed in SCI)
2019
2019Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
Akcakaya N. H. , Haryanyan G., Mercan S., Sozer N., Ali A., Tombul T., et al.
Neurologia i neurochirurgia polska, vol.53, no.6, pp.476-483, 2019 (Journal Indexed in SCI Expanded)
2018
2018Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia
ALTıOKKA-UZUN G., OZDEMIR O., Uğur-İşeri S. A. , Bebek N. , Gürses C., Özbek U. , et al.
EPILEPTIC DISORDERS, vol.20, no.5, pp.396-400, 2018 (Journal Indexed in SCI)
2018
2018Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
Yucel-Yilmaz D., Yucesan E., YALNIZOĞLU D., Oguz K. K. , SAGIROGLU M. S. , Ozbek U., et al.
Brain & development, vol.40, no.6, pp.458-464, 2018 (Journal Indexed in SCI Expanded)
2017
2017SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey
Yucesan E., UĞUR İŞERİ S. A. , Bilgic B. , Gormez Z., Bakir Gungor B., Sarac A., et al.
NEUROLOGICAL SCIENCES, vol.38, no.12, pp.2203-2207, 2017 (Journal Indexed in SCI)
2017
2017Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
AKÇAKAYA N., Iseri S. A. , BILIR B., BATTALOGLU E., TEKTURK P., GULTEKIN M. H. , et al.
Clinical neurology and neurosurgery, vol.154, pp.34-42, 2017 (Journal Indexed in SCI)
2016
2016A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
Yapici Z. , Akcakaya N. H. , Tekturk P., Iseri S. A. , Ozbek U.
Brain & development, vol.38, no.8, pp.755-8, 2016 (Journal Indexed in SCI Expanded)
2016
2016Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation
Kesim Y. F. , Uzun G. A. , Yucesan E., Tuncer F. N. , Ozdemir O., Bebek N. , et al.
EPILEPSY RESEARCH, vol.120, pp.73-78, 2016 (Journal Indexed in SCI)
2015
2015A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family
Tuncer F. N. , Görmez Z. , Calik M., Uzun G. A. , SAGIROGLU M. S. , YUCETURK B., et al.
EPILEPSY RESEARCH, vol.113, pp.5-10, 2015 (Journal Indexed in SCI)
2013
2013Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data
Bakir-Gungor B., Baykan B. , Iseri S. U. , Tuncer F. N. , Sezerman O. U.
EPILEPSY RESEARCH, vol.105, pp.92-102, 2013 (Journal Indexed in SCI)
2011
2011A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
Yildirim Y., Orhan E. , Iseri S. A. U. , Serdaroglu-Oflazer P., KARA B., Solakoglu S. , et al.
HUMAN MOLECULAR GENETICS, vol.20, no.10, pp.1886-1892, 2011 (Journal Indexed in SCI)
2010
2010A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
Ugur I. , DURLU Y., TOLUN A.
European journal of human genetics : EJHG, vol.18, pp.1121-6, 2010 (Journal Indexed in SCI)
2010
2010Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
Iseri S. A. , Wyatt A. W. , NUERNBERG G., KLUCK C., NUERNBERG P., Holder G. E. , et al.
HUMAN GENETICS, vol.128, no.1, pp.51-60, 2010 (Journal Indexed in SCI)
2010
2010Sonic Hedgehog Mutations Are an Uncommon Cause of Developmental Eye Anomalies
Bakrania P., Iseri S. A. , Wyatt A. W. , BUNYAN D. J. , Lam W. W. K. , Salt A., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, pp.1310-1313, 2010 (Journal Indexed in SCI)
2009
2009Seeing Clearly: The Dominant and Recessive Nature of FOXE3 in Eye Developmental Anomalies
Iseri S. A. , Osborne R. J. , Farrall M., Wyatt A. W. , Mirza G., NUERNBERG G., et al.
HUMAN MUTATION, vol.30, no.10, pp.1378-1386, 2009 (Journal Indexed in SCI)
2008
2008Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus.
KABAKUS N., AYDIN M., Ugur S. A. , DURUKAN M., TOLUN A.
Pediatrics international : official journal of the Japan Pediatric Society, vol.50, pp.703-5, 2008 (Journal Indexed in SCI)
2008
2008Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
Ugur S. A. , Tolun A.
HUMAN MOLECULAR GENETICS, vol.17, no.17, pp.2644-2653, 2008 (Journal Indexed in SCI)
2008
2008A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract
Ugur S. A. , Tolun A.
EUROPEAN JOURNAL OF HUMAN GENETICS, vol.16, no.2, pp.261-264, 2008 (Journal Indexed in SCI)
2006
2006Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
CORUT A., SENYIGIT A., Ugur S. A. , ALTIN S., OZCELIK U., CALISIR H., et al.
AMERICAN JOURNAL OF HUMAN GENETICS, vol.79, no.4, pp.650-656, 2006 (Journal Indexed in SCI)
2006
2006Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.
SONMEZ F., CELEP F., Ugur S. A. , TOLUN A.
Journal of child neurology, vol.21, pp.333-7, 2006 (Journal Indexed in SCI)
2004
2004Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.
ONENGÜT S., Uğur S. A. , KARASOY H., YÜCEYAR N. S. , TOLUN A.
Neuromuscular disorders : NMD, vol.14, pp.4-9, 2004 (Journal Indexed in SCI)
2003
2003Is the novel SCKL3 at 14q23 the predominant Seckel locus?
KILINC M. , NINIS V., Ugur S. A. , Tuysuz B. , Seven M. , BALCI S., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS, vol.11, no.11, pp.851-857, 2003 (Journal Indexed in SCI)
Articles Published in Other Journals
2021
2021BAĞLANTI VE TÜM EKZOM DİZİLEME ANALİZLERİNİN BİRLİKTE DEĞERLENDİRİLMESİYLE CIC GENİN İZOLE DİSTONİ ADAYI OLARAK BELİRLENMESİ
Salman B., Yücesan E., Samancı B. , Bilgiç B. , Hanağası H. A. , Gürvit İ. H. , et al.
İstanbul Tıp Fakültesi Dergisi (J Ist Faculty Med), vol.84, pp.1-7, 2021 (National Refreed University Journal)
2020
2020SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME
Ornek Erguzeloglu C., KARA B., Karacan I., Ozdemir O., Kesim Y., Bebek N. , et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.83, no.3, pp.177-183, 2020 (Journal Indexed in ESCI)
2019
2019SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME
Örnek Ergüzeloğlu C., Kara B., Karacan İ., Özdemir Ö., Kesim Y., BEBEK N. , et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.21, pp.1-7, 2019 (National Refreed University Journal)
2016
2016Kopya Sayısı Değişikliklerinin SNP Array ile Tespiti- Detection of Copy Number Variations using SNP arrays
UĞUR İŞERİ S. A.
Türkiye Klinikleri J Pediatr Sci., vol.12, no.4, pp.54-59, 2016 (Other Refereed National Journals)
2015
2015Tüm Genom SNP Genotipleme ile Trizomi ve Ebeveyn Etkisinin Tespiti
Kesim F. Y. , TUNCER KILINÇ F. N. , YUCESAN E., OZDEMIR O., CALIK M., ÖZBEK U. , et al.
Deneysel Tıp Degisi, vol.3, no.7, pp.22-27, 2015 (National Refreed University Journal)
2014
2014Tüm Genom SNP Genotipleme ile Trizomi ve Ebeveyn Etkisinin Tespiti
Kesim F. Y. , TUNCER KILINÇ F. N. , YUCESAN E., OZDEMIR O., CALIK M., ÖZBEK U. , et al.
Deneysel Tıp Dergisi, vol.3, pp.22-27, 2014 (National Refreed University Journal)
2011
2011Nörogenetikte bağlantı analizinin kullanımı
UĞUR İŞERİ S. A. , ÖZBEK U.
Türkiye Klinikleri J Neurol-Special Topics, vol.4, no.2, pp.11-15, 2011 (Other Refereed National Journals)
Refereed Congress / Symposium Publications in Proceedings
2016
2016Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability
Kesim Y., Çalık M., Tuncer F., İşcan A., Uzun G., Özbek U., et al.
European Society of Human Genetics 2016, Barselona, Spain, 21 - 26 May 2016, pp.175
2014
2014Correlation between phenotypic and genotypic tetracycline resistance of Escherichia coli isolates from food of animal origin
Muratoglu K., Özdemir Ö., Eker F. Y. , Bayrakal M., Levent G., Ugur S. A. , et al.
European Biotechnology Congress, Lecce, Italy, 15 - 18 May 2014, vol.185
Books & Book Chapters
2021
2021Nadir Nörolojik Hastalıklarda Gen Avcılığı
Uğur İşeri S. A.
in: Türkiye Klinikleri Tıbbi Genetik - Özel Konular, Prof. Dr. Uğur ÖZBEK, Editor, Türkiye Klinikleri Yayınevi, İstanbul, pp.56-63, 2021
2021
2021Biyobankalar
Erbilgin Y. , Uğur İşeri S. A. , Özbek U.
in: Tıp Bilişimi, Nilgün Bozbuğa,Sevinç Gülseçen, Editor, Istanbul University, İstanbul, pp.159-169, 2021
2016
2016Biyobankalamada Protokol ve Kalite Kılavuzu
ERBİLGİN Y. , UĞUR İŞERİ S. A. , Khodhzaev K., Haryanyan G.
İstanbul Medikal Yayıncılık, İstanbul, 2016
2010
2010Locus and gene analyses in five inherited disorders
UĞUR İŞERİ S. A.
Lambert Academic Publishing, Saarbrücken, 2010
Supported Projects
2017 - Continues
2017 - ContinuesEpi25 collaborative: Large-Scale Whole Genome Sequencing in Epilepsy
Other Supported Projects
UĞUR İŞERİ S. A.
2017 - 2019
2017 - 2019Zihinsel Yetmezlik ile İlişkili Yeni Gen Varyantlarının Araştırılması
Project Supported by Higher Education Institutions
UĞUR İŞERİ S. A. (Executive)
2015 - 2017
2015 - 2017Geleceğe Yatırım: BİYOBANKA
Project Supported by Other Official Institutions
TÜRKER ŞENER L. , TUNCER KILINÇ F. N. , ERBİLGİN Y. , UĞUR İŞERİ S. A.
2015 - 2017
2015 - 2017Beyinde demir birikimi ile nörodejenerasyonu olan hastaların genetik analizi
Project Supported by Higher Education Institutions
YAPICI Z. (Executive) , HANAĞASI H. A. , UĞUR İŞERİ S. A.
2013 - 2017
2013 - 2017Ailevi Epilepsilerin Genetik Temellerinin Aydınlatılması
TUBITAK Project
UĞUR İŞERİ S. A. (Executive)
2016 - 2016
2016 - 2016A novel mutation in PCDH19 enabled genetic diagnosis as Epilepsy and Mental Retardation Limited to Females
Project Supported by Higher Education Institutions
TUNCER KILINÇ F. N. (Executive) , UĞUR İŞERİ S. A. , ÖZBEK U. , KARA B., MARAŞ GENÇ H., UYUR YALÇIN E.
2016 - 2016
2016 - 2016Clinical and Genetic Features of PKAN Patients in a Tertiary Center in Turkey
Project Supported by Higher Education Institutions
ÖZBEK U. (Executive) , UĞUR İŞERİ S. A. , HANAĞASI H. A. , CEYLAN N. H. , YAPICI Z. , ERAKSOY M. , et al.
2010 - 2013
2010 - 2013İdyopatik Jeneralize Epilepsilerde Tüm Genom Metilom Analizi
TUBITAK Project
2007 - 2011
2007 - 2011EPICURE: Functional Genomics and Neurobiology of Epilepsy: a basis for new therapeutic strategies
EU Framework Program Project
UĞUR İŞERİ S. A.
2008 - 2009
2008 - 2009Novel approaches for the genetic diagnosis of eye developmental disorders-NewLife Foundation for Disabled Children. İngiltere
Other Supported Projects
UĞUR İŞERİ S. A.
2002 - 2008
2002 - 2008Monogenik hastalıklar için 400 bireyde genotipleme - NHLBI Mammalian Genotyping Service, Marshfield Clinic Research Foundation
Other Supported Projects
UĞUR İŞERİ S. A.
2004 - 2004
2004 - 2004Nadir hastalık genleri belirlenmesi
CB Strateji ve Bütçe Başkanlığı (Kalkınma Bakanlığı) Projesi
UĞUR İŞERİ S. A.
Memberships / Tasks in Scientific Organizations
2020 - Continues
2020 - Continues
İstanbul Teknik Üniversitesi Sağlık ve Mühendislik Bilimleri İnsan deneyleri (SM-INAREK) Etik Kurulu
Member
2018 - Continues
2018 - Continuesİstanbul Üniversitesi Epilepsi Uygulama ve Araştırma Merkezi (EPİMER) Yönetim Kurulu Üyesi
Board Member
2016 - Continues
2016 - ContinuesEuropean Society of Human Genetics
Member
2016 - Continues
2016 - ContinuesAmerican Society of Human Genetics
Member
2014 - Continues
2014 - ContinuesTürk Nöroloji Derneği
Member
Awards
December 2019
December 2019TÜBA GEBİP 2019
Türkiye Bilimler Akademisi
May 2010
May 2010Tüm genom bağlantı analizi ve aday gen incelemesi ile otozomal çekinik İJE’de genetik faktörlerin araştırılması
Beyin Araştırmaları Derneği-Boehringer-Ingelheim Proje Desteği
Edit Congress and Symposium Activities
2018
2018ZIHINSEL OGRENME YETERSIZLİGININ ESLIK ETTIGI MIKROSEFALI OLGULARINDA TU¨M EKZOM DIZILEME UYGULAMALARI. 13. Ulusal Tıbbi Genetik Kongresi.
Attendee
Antalya-Turkey
2018
2018LATERAL TEMPORAL LOB EPİLEPSİLİ HASTALARDA GENETIK ANALIZLER. 13. Ulusal Tıbbi genetik Kongresi.
Attendee
-Turkey
2018
2018114 kisilik epilepsi kohortunda ekzom dizileme verisi ile SCN1A gen varyantlarının meta analizi. 11. Ulusal Epilepsi Kongresi.
Attendee
Muğla-Turkey
2018
2018GLUT1 EKSIKLIGI SENDROMUNDA SLC2A1 GENI KOPYA SAYISI DEGISIKLIKLERININ INCELENMESI. 11. Ulusal Epilepsi Kongresi.
Attendee
-Turkey
2018
2018EPM4 ILE ILISKILI YENI SCARB2 VARYASYONUNUN TUM EKZOM DIZILEME YONTEMI ILE TESPITI. 11. Ulusal Epilepsi Kongresi.
Attendee
-Turkey
2017
2017Exome sequencing identifies a novel FBXO38 variant inherited from a mosaic mother to cause Distal Hereditary Motor Neuronopathy Type IID with distinct features. 67th Annual Meeting of the American Society of Human Genetics
Attendee
Florida-United States Of America
2017
2017Towards an Epilepsy Biobank. Global Biobank Week 2017
Attendee
Stockholm-Sweden
2017
2017Research Biobank for Leukemia.Global Biobank Week 2017
Attendee
Stockholm-Sweden
2017
2017Outcomes of a Biobanking Initiative from Turkey: ‘Investing in the Future: BIOBANK’.
Attendee
Stockholm-Sweden
2016
2016SENDROMIK ZIHINSEL YETMEZLIKTE TESPIT EDILEN YENI BIR GEN VE IN VITRO KARAKTERIZASYONU. 53. Ulusal Nöroloji Kongresi.
Attendee
-Turkey
2016
2016EPILEPSININ ESLIK ETTIGI ZIHINSEL YETMEZLIK VAKASINDA GENOMIK YAKLASIMLAR. 53. Ulusal Nöroloji Kongresi.
Attendee
Antalya-Turkey
2016
2016Febril nöbet sonrası epoleptogenez sürecinin araştırılması. 53. Ulusal Nöroloji Kongresi.
Attendee
-Turkey
2016
2016GLUT1 eksikligi sendromunda genetik analizler. 53. Ulusal Nöroloji Kongresi.
Attendee
-Turkey
2016
2016Investing in the Future BIOBANK. Europe Biobank Week 2016
Attendee
Vienna-Austria
2016
2016GLUT1 YETMEZLIK SENDROMU ILE ILISKILI SLC2A1 DE NOVO GEN VARYANTLARININ TESPITI. 10. Ulusal Epilepsi Kongresi.
Attendee
-Turkey
2016
2016LATERAL TEMPORAL LOB EPILEPSI HASTALARINDA GERCEKLESTIRILEN LGI1 TARAMASINDA YENI BIR DE NOVO MUTASYON TESPITI. 10. Ulusal Epilepsi Kongresi.
Attendee
İzmir-Turkey
2016
2016BENIGN FAMILYAL INFANTIL KONVULSIYONA SAHIP BIREYLERI OLAN GENIS BIR AILEDE PRRT2 GEN ANALIZININ GERCEKLESTIRILMESI. 10. Ulusal Epilepsi Kongresi.
Attendee
-Turkey
2016
2016
Genetic analysis of delayed motor mental development and Unverricht-Lundborg disease in a large highly consanguineous family from Turkey. European Human Genetics Conference 2016
Attendee
Barcelona-Spain
2016
2016Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability. European Human Genetics Conference 2016
Attendee
Barcelona-Spain
2016
2016Clinical and Genetic Features of PKAN Patients in a Tertiary Center in Turkey. European Human Genetics Conference 2016
Attendee
Barcelona-Spain
2016
2016FEBRIL NOBET SONRASI EPILEPTOGENEZ SURECININ GENOM BOYU ANALIZLERLE SICAN MODELINDE ARASTIRILMASI (GENOME-WIDE ANALYSIS OF EPILEPTOGENESIS ON FEBRILE SEIZURE RAT MODEL). 10. Ulusal Epilepsi Kongresi.
Attendee
-Turkey
2016
2016A novel mutation in PCDH19 enabled genetic diagnosis as Epilepsy and Mental Retardation Limited to Females. European Human Genetics Conference 2016
Attendee
Barcelona-Spain
2016
2016Mikrosefali-lenfödem-koryoretinaldisplazi-mikrooftalmi sendromlu bir olguda KIF11 gen mutasyonu ve 22q11.2. 3. Nörometabolik Dosmorfoloji Sempozyumu.
Attendee
İstanbul-Turkey
2016
2016Krabbe Hastalığı: Yeni bir GALC gen varyantının tespiti ile akraba evliliği yapmış ailede ayırıcı tanının sağlanması. 3. Nörometabolik Dosmorfoloji Sempozyumu.
Attendee
-Turkey
2015
2015RNA-SPESIFIK ADENOZIN DEAMINAZ (ADAR) GENINDE YENI BIR MUTASYONUN NEDEN OLDUGU AICARDI-GOUTIERES TIP 6 SENDROMU. 51. Ulusal Nöroloji Kongresi
Attendee
Antalya-Turkey
2015
2015PANTOTENAT-KINAZ İLİŞKİLİ NÖRODEJENERASYON: KLINIK-GENETIK-RADYOLOJIK CALISMA. 51. Ulusal Nöroloji Kongresi
Attendee
-Turkey
2015
2015Akraba evliligi yapmıs¸genis¸bir ailede birbirinden bagımsız olarak gozlenen Unverricht-Lundborg Hastalıgı ve Motor Mental Gelisme Geriliginin genetik olarak incelenmesi. 12. Ulusal Çocuk Genetik Sempozyumu
Attendee
-Turkey
2015
2015MKA/MR olgularında kopya sayısı degisimlerinin SNP- array yöntemi ile incelenmesi ve validasyonu. 12. Ulusal Çocuk Genetik Sempozyumu
Attendee
Samsun-Turkey
2015
2015Combined analysis of linkage and exome sequencing identifies a novel elongation factor associated with intellectual disability and delayed motor development. European Human Genetics Conference 2015
Attendee
Glasgow-United Kingdom
2015
2015A novel mutation in LGI1 gene found in a series of consecutive epileptic patients with auditory aura. European Human Genetics Conference 2015
Attendee
Glasgow-United Kingdom
2015
2015A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family. European Human Genetics Conference 2015
Attendee
Glasgow-United Kingdom
2014
2014Combined analysis of linkage and exome sequencing identifies a novel SYNE1 mutation in a consanguineous family from Turkey with a rare form of recessive cerebellar ataxia. European Human Genetics Conference 2014
Attendee
Milan-Italy
2014
2014Whole genome methylation analysis in idiopathic generalized epilepsies. European Human Genetics Conference 2014
Attendee
Milan-Italy
2012
2012Genome-wide SNP analysis in a large consanguineous Turkish family reveals diagnosis as Unverricht-Lundborg Disease. American Society of Human Genetics 62nd Annual Meeting
Attendee
California-United States Of America
2012
2012
Identifying disease genes in a large highly inbred consanguineous kindred from Turkey with idiopathic generalized epilepsy. American Society of Human Genetics 62nd Annual Meeting
Attendee
California-United States Of America
2012
2012Identification of a de novo splice-site mutation in SLC2A1 gene causing Glut1 deficiency syndrome in a Turkish patient. European Human Genetics Conference 2012
Attendee
Nuremberg-Germany
2011
2011GENETIC ANALYSIS OF SLC2A1 GENE CODING GLUCOSE TRANSPORTER GLUT1 IN TURKISH IDIOPATHIC GENERALIZED EPILEPSY PATIENTS. 29th International Epilepsy Congress
Attendee
Rome-Italy
2011
2011Whole genome linkage analysis in a large consanguineous Turkish family with idiopathic generalized epilepsy. European Human Genetics Conference 2011
Attendee
Amsterdam-Netherlands
2009
2009Detection of copy number events in patients with eye development disorders using SNP arrays and multiple detection algorithms. American Society of Human Genetics 59th Annual Meeting
Attendee
Hawaii-United States Of America
2009
2009The 94th annual Meeting of the Oxford Ophthalmological Congress: Identification of novel mutations in a lens specific transcription factor gene
Attendee
Oxford-United Kingdom
2009
2009Sonic Hedgehog Mutations are an Uncommon Cause of Developmental Eye Anomalies. European Human Genetics Conference 2009
Attendee
Vienna-Austria
2007
2007Linkage to 13q in a novel autosomal dominant pseudoarthrogryposis-like syndrome. European Human Genetics Conference 2007
Attendee
Nice-France
2006
2006Mutations in a solute carrier gene are responsible for pulmonary alveolar and partly for testicular microlithiasis. 31st Congress of the Federation-of-European-Biochemical-Societies (FEBS) 2006.
Attendee
İstanbul-Turkey
2006
2006Locus and gene analysis in a novel autosomal recessive leukodystrophy. European Human Genetics Conference 2006
Attendee
Amsterdam-Netherlands
2006
2006An early-onset progressive encephalopathy with myoclonus and dystonia (PEMD) mapping to chromosome 16pter. European Human Genetics Conference 2006
Attendee
Amsterdam-Netherlands
Scholarships
2001 - 2006
2001 - 2006