Prof.

Sibel Aylin UĞUR İŞERİ


Aziz Sancar Institute of Experimental Medicine

Department of Genetics

Education Information

2002 - 2008

2002 - 2008

Doctorate

Boğaziçi Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik, Turkey

2000 - 2002

2000 - 2002

Postgraduate

Boğaziçi Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik, Turkey

1996 - 2000

1996 - 2000

Undergraduate

Boğaziçi Üniversitesi, Fen Edebiyat Fakültesi, Moleküler Biyoloji Ve Genetik, Turkey

Dissertations

2008

2008

Doctorate

GENOM TARAMASINDAN HASTALIK GENİ TANIMLANMASINA

Bogazici University, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik

2002

2002

Postgraduate

BEŞ KALITSAL HASTALIKTA LOKUS VE GEN ANALİZI

Bogazici University, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik

Foreign Languages

C1 Advanced

C1 Advanced

English

Certificates, Courses and Trainings

2013

2013

Avrupa 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 - Continues

Professor

Istanbul University, Aziz Sancar Institute Of Experimental Medicine, Department Of Genetics

2013 - 2019

2013 - 2019

Associate Professor

Istanbul University, Aziz Sancar Institute Of Experimental Medicine, Department Of Genetics

2008 - 2009

2008 - 2009

Research Assistant PhD

University Of Oxford, Department Of Physiology, Anatomy And Genetics, Department Of Physiology, Anatomy And Genetics

2002 - 2008

2002 - 2008

Research Assistant

Boğaziçi Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji Ve Genetik

Courses

Undergraduate

Undergraduate

Genetics

Undergraduate

Undergraduate

Molecular Evolution and Biodiversity

Doctorate

Doctorate

Human Genetics

Doctorate

Doctorate

İleri Moleküler Genetik

Postgraduate

Postgraduate

Moleküler Genetik

Postgraduate

Postgraduate

Bioinformatics for Health Research (Biyo-Sağlık Bilişimi İngilizce Yüksek Lisans Programı)

Postgraduate

Postgraduate

Bioinformatics (İngilizce)

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

2019

2019

Clinical 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) identifier identifier identifier

2017

2017

Clinical 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) identifier identifier identifier

2016

2016

A 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) identifier identifier identifier

2010

2010

A 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) identifier identifier identifier

2010

2010

Sonic 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) identifier identifier identifier

2008

2008

Very-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) identifier identifier identifier

2008

2008

Homozygous 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) identifier identifier identifier

2008

2008

A 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) identifier identifier identifier

2003

2003

Is 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) identifier identifier identifier

Articles Published in Other Journals

2020

2020

SCREENING 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) identifier

2019

2019

SCREENING 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

2016

Kopya 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

2015

Tüm 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

2014

Tüm 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

2011

Nörogenetikte 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

Books & Book Chapters

2021

2021

Nadir 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

2021

Biyobankalar

Erbilgin Y. , Uğur İşeri S. A. , Özbek U.

in: Tıp Bilişimi, Nilgün Bozbuğa,Sevinç Gülseçen, Editor, Istanbul University, İstanbul, pp.159-169, 2021

2010

2010

Locus and gene analyses in five inherited disorders

UĞUR İŞERİ S. A.

Lambert Academic Publishing, Saarbrücken, 2010

Supported Projects

2017 - 2019

2017 - 2019

Zihinsel Yetmezlik ile İlişkili Yeni Gen Varyantlarının Araştırılması

Project Supported by Higher Education Institutions

UĞUR İŞERİ S. A. (Executive)

2015 - 2017

2015 - 2017

Geleceğe Yatırım: BİYOBANKA

Project Supported by Other Official Institutions

TÜRKER ŞENER L. , TUNCER KILINÇ F. N. , ERBİLGİN Y. , UĞUR İŞERİ S. A.

2011 - 2014

2011 - 2014

Nadir Epilepsi Sendromları Genetiği

TUBITAK Project

UĞUR İŞERİ S. A.

2004 - 2004

2004 - 2004

Nadir 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 KuruluSustainable Development

Member

2018 - Continues

2018 - Continues

İstanbul Üniversitesi Epilepsi Uygulama ve Araştırma Merkezi (EPİMER) Yönetim Kurulu Üyesi

Board Member

2016 - Continues

2016 - Continues

European Society of Human Genetics

Member

2016 - Continues

2016 - Continues

American Society of Human Genetics

Member

2014 - Continues

2014 - Continues

Türk Nöroloji Derneği

Member

Awards

December 2019

December 2019

TÜBA GEBİP 2019

Türkiye Bilimler Akademisi

May 2010

May 2010

Tüm 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

2018

ZIHINSEL OGRENME YETERSIZLİGININ ESLIK ETTIGI MIKROSEFALI OLGULARINDA TU¨M EKZOM DIZILEME UYGULAMALARI. 13. Ulusal Tıbbi Genetik Kongresi.

Attendee

Antalya-Turkey

2018

2018

LATERAL TEMPORAL LOB EPİLEPSİLİ HASTALARDA GENETIK ANALIZLER. 13. Ulusal Tıbbi genetik Kongresi.

Attendee

-Turkey

2018

2018

114 kisilik epilepsi kohortunda ekzom dizileme verisi ile SCN1A gen varyantlarının meta analizi. 11. Ulusal Epilepsi Kongresi.

Attendee

Muğla-Turkey

2018

2018

GLUT1 EKSIKLIGI SENDROMUNDA SLC2A1 GENI KOPYA SAYISI DEGISIKLIKLERININ INCELENMESI. 11. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

2018

2018

EPM4 ILE ILISKILI YENI SCARB2 VARYASYONUNUN TUM EKZOM DIZILEME YONTEMI ILE TESPITI. 11. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

2017

2017

Exome 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

2017

Towards an Epilepsy Biobank. Global Biobank Week 2017

Attendee

Stockholm-Sweden

2017

2017

Research Biobank for Leukemia.Global Biobank Week 2017

Attendee

Stockholm-Sweden

2017

2017

Outcomes of a Biobanking Initiative from Turkey: ‘Investing in the Future: BIOBANK’.

Attendee

Stockholm-Sweden

2016

2016

SENDROMIK ZIHINSEL YETMEZLIKTE TESPIT EDILEN YENI BIR GEN VE IN VITRO KARAKTERIZASYONU. 53. Ulusal Nöroloji Kongresi.

Attendee

-Turkey

2016

2016

EPILEPSININ ESLIK ETTIGI ZIHINSEL YETMEZLIK VAKASINDA GENOMIK YAKLASIMLAR. 53. Ulusal Nöroloji Kongresi.

Attendee

Antalya-Turkey

2016

2016

Febril nöbet sonrası epoleptogenez sürecinin araştırılması. 53. Ulusal Nöroloji Kongresi.

Attendee

-Turkey

2016

2016

GLUT1 eksikligi sendromunda genetik analizler. 53. Ulusal Nöroloji Kongresi.

Attendee

-Turkey

2016

2016

Investing in the Future BIOBANK. Europe Biobank Week 2016

Attendee

Vienna-Austria

2016

2016

GLUT1 YETMEZLIK SENDROMU ILE ILISKILI SLC2A1 DE NOVO GEN VARYANTLARININ TESPITI. 10. Ulusal Epilepsi Kongresi.

Attendee

-Turkey

2016

2016

LATERAL TEMPORAL LOB EPILEPSI HASTALARINDA GERCEKLESTIRILEN LGI1 TARAMASINDA YENI BIR DE NOVO MUTASYON TESPITI. 10. Ulusal Epilepsi Kongresi.

Attendee

İzmir-Turkey

2016

2016

BENIGN 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 2016Sustainable Development

Attendee

Barcelona-Spain

2016

2016

Exome 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

2016

Clinical and Genetic Features of PKAN Patients in a Tertiary Center in Turkey. European Human Genetics Conference 2016

Attendee

Barcelona-Spain

2016

2016

FEBRIL 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

2016

A novel mutation in PCDH19 enabled genetic diagnosis as Epilepsy and Mental Retardation Limited to Females. European Human Genetics Conference 2016

Attendee

Barcelona-Spain

2016

2016

Mikrosefali-lenfödem-koryoretinaldisplazi-mikrooftalmi sendromlu bir olguda KIF11 gen mutasyonu ve 22q11.2. 3. Nörometabolik Dosmorfoloji Sempozyumu.

Attendee

İstanbul-Turkey

2016

2016

Krabbe Hastalığı: Yeni bir GALC gen varyantının tespiti ile akraba evliliği yapmış ailede ayırıcı tanının sağlanması. 3. Nörometabolik Dosmorfoloji Sempozyumu.

Attendee

-Turkey

2015

2015

RNA-SPESIFIK ADENOZIN DEAMINAZ (ADAR) GENINDE YENI BIR MUTASYONUN NEDEN OLDUGU AICARDI-GOUTIERES TIP 6 SENDROMU. 51. Ulusal Nöroloji Kongresi

Attendee

Antalya-Turkey

2015

2015

PANTOTENAT-KINAZ İLİŞKİLİ NÖRODEJENERASYON: KLINIK-GENETIK-RADYOLOJIK CALISMA. 51. Ulusal Nöroloji Kongresi

Attendee

-Turkey

2015

2015

Akraba 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

2015

MKA/MR olgularında kopya sayısı degisimlerinin SNP- array yöntemi ile incelenmesi ve validasyonu. 12. Ulusal Çocuk Genetik Sempozyumu

Attendee

Samsun-Turkey

2015

2015

Combined 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

2015

A 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

2015

A 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

2014

Combined 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

2014

Whole genome methylation analysis in idiopathic generalized epilepsies. European Human Genetics Conference 2014

Attendee

Milan-Italy

2012

2012

Genome-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 MeetingSustainable Development

Attendee

California-United States Of America

2012

2012

Identification 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

2011

GENETIC ANALYSIS OF SLC2A1 GENE CODING GLUCOSE TRANSPORTER GLUT1 IN TURKISH IDIOPATHIC GENERALIZED EPILEPSY PATIENTS. 29th International Epilepsy Congress

Attendee

Rome-Italy

2011

2011

Whole genome linkage analysis in a large consanguineous Turkish family with idiopathic generalized epilepsy. European Human Genetics Conference 2011

Attendee

Amsterdam-Netherlands

2009

2009

Detection 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

2009

The 94th annual Meeting of the Oxford Ophthalmological Congress: Identification of novel mutations in a lens specific transcription factor gene

Attendee

Oxford-United Kingdom

2009

2009

Sonic Hedgehog Mutations are an Uncommon Cause of Developmental Eye Anomalies. European Human Genetics Conference 2009

Attendee

Vienna-Austria

2007

2007

Linkage to 13q in a novel autosomal dominant pseudoarthrogryposis-like syndrome. European Human Genetics Conference 2007

Attendee

Nice-France

2006

2006

Mutations 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

2006

Locus and gene analysis in a novel autosomal recessive leukodystrophy. European Human Genetics Conference 2006

Attendee

Amsterdam-Netherlands

2006

2006

An 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

Bilim Adamı Yetiştirme Grubu Bursiyeri (BAYG/BİDEB) 2001-2006

TUBITAK

Citations

Total Citations (WOS): 457

h-index (WOS): 10