Achievements & Reputation

Publication

68

Citation (WoS)

774

Citation (Scopus)

856

H-Index (WoS)

14

H-Index (Scopus)

14

Congress and Symposium Activities

  • 01 November 2018 - 01 November 2018 ZIHINSEL OGRENME YETERSIZLİGININ ESLIK ETTIGI MIKROSEFALI OLGULARINDA TU¨M EKZOM DIZILEME UYGULAMALARI. 13. Ulusal Tıbbi Genetik Kongresi.

    Attendee

    Antalya, Turkey

  • 01 November 2018 - 01 November 2018 LATERAL TEMPORAL LOB EPİLEPSİLİ HASTALARDA GENETIK ANALIZLER. 13. Ulusal Tıbbi genetik Kongresi.

    Attendee

    Turkey

  • 01 May 2018 - 01 May 2018 EPM4 ILE ILISKILI YENI SCARB2 VARYASYONUNUN TUM EKZOM DIZILEME YONTEMI ILE TESPITI. 11. Ulusal Epilepsi Kongresi.

    Attendee

    Turkey

  • 01 May 2018 - 01 May 2018 114 kisilik epilepsi kohortunda ekzom dizileme verisi ile SCN1A gen varyantlarının meta analizi. 11. Ulusal Epilepsi Kongresi.

    Attendee

    Muğla, Turkey

  • 01 May 2018 - 01 May 2018 GLUT1 EKSIKLIGI SENDROMUNDA SLC2A1 GENI KOPYA SAYISI DEGISIKLIKLERININ INCELENMESI. 11. Ulusal Epilepsi Kongresi.

    Attendee

    Turkey

  • 01 October 2017 - 01 October 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

  • 01 September 2017 - 01 September 2017 Research Biobank for Leukemia.Global Biobank Week 2017

    Attendee

    Stockholm, Sweden

  • 01 September 2017 - 01 September 2017 Towards an Epilepsy Biobank. Global Biobank Week 2017

    Attendee

    Stockholm, Sweden

  • 01 September 2017 - 01 September 2017 Outcomes of a Biobanking Initiative from Turkey: ‘Investing in the Future: BIOBANK’.

    Attendee

    Stockholm, Sweden

  • 01 November 2016 - 01 November 2016 EPILEPSININ ESLIK ETTIGI ZIHINSEL YETMEZLIK VAKASINDA GENOMIK YAKLASIMLAR. 53. Ulusal Nöroloji Kongresi.

    Attendee

    Antalya, Turkey

  • 01 November 2016 - 01 November 2016 GLUT1 eksikligi sendromunda genetik analizler. 53. Ulusal Nöroloji Kongresi.

    Attendee

    Turkey

  • 01 November 2016 - 01 November 2016 SENDROMIK ZIHINSEL YETMEZLIKTE TESPIT EDILEN YENI BIR GEN VE IN VITRO KARAKTERIZASYONU. 53. Ulusal Nöroloji Kongresi.

    Attendee

    Turkey

  • 01 November 2016 - 01 November 2016 Febril nöbet sonrası epoleptogenez sürecinin araştırılması. 53. Ulusal Nöroloji Kongresi.

    Attendee

    Turkey

  • 01 September 2016 - 01 September 2016 Investing in the Future BIOBANK. Europe Biobank Week 2016

    Attendee

    Vienna, Austria

  • 01 May 2016 - 01 May 2016 Clinical and Genetic Features of PKAN Patients in a Tertiary Center in Turkey. European Human Genetics Conference 2016

    Attendee

    Barcelona, Spain

  • 01 May 2016 - 01 May 2016 BENIGN FAMILYAL INFANTIL KONVULSIYONA SAHIP BIREYLERI OLAN GENIS BIR AILEDE PRRT2 GEN ANALIZININ GERCEKLESTIRILMESI. 10. Ulusal Epilepsi Kongresi.

    Attendee

    Turkey

  • 01 May 2016 - 01 May 2016 GLUT1 YETMEZLIK SENDROMU ILE ILISKILI SLC2A1 DE NOVO GEN VARYANTLARININ TESPITI. 10. Ulusal Epilepsi Kongresi.

    Attendee

    Turkey

  • 01 May 2016 - 01 May 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

  • 01 May 2016 - 01 May 2016 LATERAL TEMPORAL LOB EPILEPSI HASTALARINDA GERCEKLESTIRILEN LGI1 TARAMASINDA YENI BIR DE NOVO MUTASYON TESPITI. 10. Ulusal Epilepsi Kongresi.

    Attendee

    İzmir, Turkey

  • 01 May 2016 - 01 May 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

  • 01 May 2016 - 01 May 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

  • 01 May 2016 - 01 May 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

  • 01 March 2016 - 01 March 2016 Mikrosefali-lenfödem-koryoretinaldisplazi-mikrooftalmi sendromlu bir olguda KIF11 gen mutasyonu ve 22q11.2. 3. Nörometabolik Dosmorfoloji Sempozyumu.

    Attendee

    İstanbul, Turkey

  • 01 March 2016 - 01 March 2016 Krabbe Hastalığı: Yeni bir GALC gen varyantının tespiti ile akraba evliliği yapmış ailede ayırıcı tanının sağlanması. 3. Nörometabolik Dosmorfoloji Sempozyumu.

    Attendee

    Turkey

  • 01 November 2015 - 01 November 2015 RNA-SPESIFIK ADENOZIN DEAMINAZ (ADAR) GENINDE YENI BIR MUTASYONUN NEDEN OLDUGU AICARDI-GOUTIERES TIP 6 SENDROMU. 51. Ulusal Nöroloji Kongresi

    Attendee

    Antalya, Turkey

  • 01 November 2015 - 01 November 2015 PANTOTENAT-KINAZ İLİŞKİLİ NÖRODEJENERASYON: KLINIK-GENETIK-RADYOLOJIK CALISMA. 51. Ulusal Nöroloji Kongresi

    Attendee

    Turkey

  • 01 October 2015 - 01 October 2015 MKA/MR olgularında kopya sayısı degisimlerinin SNP- array yöntemi ile incelenmesi ve validasyonu. 12. Ulusal Çocuk Genetik Sempozyumu

    Attendee

    Samsun, Turkey

  • 01 October 2015 - 01 October 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

  • 01 June 2015 - 01 June 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

  • 01 June 2015 - 01 June 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

  • 01 June 2015 - 01 June 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

  • 01 June 2014 - 01 June 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

  • 01 June 2014 - 01 June 2014 Whole genome methylation analysis in idiopathic generalized epilepsies. European Human Genetics Conference 2014

    Attendee

    Milan, Italy

  • 01 November 2012 - 01 November 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

  • 01 November 2012 - 01 November 2012 Genome-wide SNP analysis in a large consanguineous Turkish family reveals diagnosis as Unverricht-Lundborg Disease. American Society of Human Genetics 62nd Annual MeetingSustainable Development

    Attendee

    California, United States Of America

  • 01 June 2012 - 01 June 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

  • 01 August 2011 - 01 August 2011 GENETIC ANALYSIS OF SLC2A1 GENE CODING GLUCOSE TRANSPORTER GLUT1 IN TURKISH IDIOPATHIC GENERALIZED EPILEPSY PATIENTS. 29th International Epilepsy Congress

    Attendee

    Rome, Italy

  • 01 May 2011 - 01 May 2011 Whole genome linkage analysis in a large consanguineous Turkish family with idiopathic generalized epilepsy. European Human Genetics Conference 2011

    Attendee

    Amsterdam, Netherlands

  • 01 October 2009 - 01 October 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

  • 01 June 2009 - 01 June 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

  • 01 May 2009 - 01 May 2009 Sonic Hedgehog Mutations are an Uncommon Cause of Developmental Eye Anomalies. European Human Genetics Conference 2009

    Attendee

    Vienna, Austria

  • 01 May 2007 - 01 May 2007 Linkage to 13q in a novel autosomal dominant pseudoarthrogryposis-like syndrome. European Human Genetics Conference 2007

    Attendee

    Nice, France

  • 01 June 2006 - 01 June 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

  • 01 May 2006 - 01 May 2006 An early-onset progressive encephalopathy with myoclonus and dystonia (PEMD) mapping to chromosome 16pter. European Human Genetics Conference 2006

    Attendee

    Amsterdam, Netherlands

  • 01 May 2006 - 01 May 2006 Locus and gene analysis in a novel autosomal recessive leukodystrophy. European Human Genetics Conference 2006

    Attendee

    Amsterdam, Netherlands

Awards

  • December 2019 TÜBA GEBİP 2019

    Türkiye Bilimler Akademisi

  • 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

Scholarships

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

    TUBITAK