Prof. Dr. Sibel Aylin UĞUR İŞERİ | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.

Susgun S., YÜCESAN E., GÖNCÜ B. S., Hasanoglu Sayin S., KINA Ü. Y., ÖZGÜL C., et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology , cilt.45, sa.5, ss.2271-2277, 2024 (SCI-Expanded)

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Montanucci L., Collins R. L., Niestroj L., Parthasarathy S., Xian J., Ganesan S., et al.

Nature communications , cilt.14, sa.1, ss.4392, 2023 (SCI-Expanded)

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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder

Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., et al.

NEUROLOGICAL SCIENCES , cilt.44, sa.7, ss.2527-2540, 2023 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli.

Oguz-Akarsu E., Salman B., Ugur-Iseri S. A., Baykan B.

Clinical EEG and neuroscience , cilt.54, sa.2, ss.160-163, 2023 (SCI-Expanded)

Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results

HATIRNAZ NG Ö., Sahin I., ERBİLGİN Y., ÖZDEMİR Ö., YÜCESAN E., Erturk N., et al.

FRONTIERS IN PUBLIC HEALTH , cilt.10, 2023 (SCI-Expanded)

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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Mercan S., Akcakaya N. H., Salman B., Yapici Z., Ozbek U., Ugur Iseri S. A.

Genes & genomics , cilt.45, sa.1, ss.13-21, 2023 (SCI-Expanded)

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Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

Susgun S., DEMİREL M., YALÇIN ÇAKMAKLI G., Salman B., Oguz K. K., ELİBOL B., et al.

International Journal of Neuroscience , 2023 (SCI-Expanded)

Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Khalilov D., Haryanyan G., Salman B., YÜCESAN E., Ugur Iseri S. A., Bebek N.

Neurocase , cilt.28, sa.6, ss.488-492, 2022 (SCI-Expanded)

Quantitative Measurement of Iron in NBIA patients with Quantitative Susceptibility Mapping and Clinical Evaluation

Uygun O., Iseri S. U., Ozcan A., DİNÇER A., Yapici Z.

EUROPEAN JOURNAL OF NEUROLOGY , cilt.29, ss.626, 2022 (SCI-Expanded)

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.

Takahashi T., Mercan S., Sassa T., BAYRAM AKÇAPINAR G., Yararbas K., SÜSGÜN S., et al.

Brain & development , cilt.44, sa.6, ss.391-400, 2022 (SCI-Expanded)

Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.

Mercan S., Ugur Iseri S. A., Yigiter R., Akcakaya N. H., Saka E., Yapici Z.

Neurocase , cilt.28, sa.1, ss.37-41, 2022 (SCI-Expanded)

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The 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 , cilt.66, sa.12, ss.1145-1151, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Koko M., Krause R., Sander T., Bobbili D. R., Nothnagel M., May P., et al.

EBIOMEDICINE , cilt.72, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Stevelink R., Luykx J. J., Lin B. D., Leu C., Lal D., Smith A. W., et al.

EPILEPSIA , cilt.62, sa.7, ss.1518-1527, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Feng Y. A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , sa.6, ss.965-982, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Effect 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 , cilt.1732, ss.146652, 2020 (SCI-Expanded)

Polygenic burden in focal and generalized epilepsies.

Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., et al.

Brain : a journal of neurology , cilt.142, sa.11, ss.3473-3481, 2019 (SCI-Expanded)

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Feng Y. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Singh T., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , sa.2, ss.267-282, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Biallelic 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 , cilt.64, sa.5, ss.421-426, 2019 (SCI-Expanded)

A 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 , cilt.21, sa.1, ss.54-59, 2019 (SCI-Expanded)

Identification 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 , cilt.14, sa.2, 2019 (SCI-Expanded)

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 , cilt.53, sa.6, ss.476-483, 2019 (SCI-Expanded)

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family

Tuncer F. N., Iseri S. A., Yapici Z., Demir M., Karaca M., Calik M.

NEUROLOGICAL SCIENCES , cilt.39, sa.12, ss.2123-2128, 2018 (SCI-Expanded)

Investigation 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 , cilt.20, sa.5, ss.396-400, 2018 (SCI-Expanded)

Clinical 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 , cilt.40, sa.6, ss.458-464, 2018 (SCI-Expanded)

Third-line treatment with second-generation tyrosine kinase inhibitors (dasatinib or nilotinib) in patients with chronic myeloid leukemia after two prior TKIs: real-life data on a single center experience along with the review of the literature.

Ongoren S., Eskazan A. E., Suzan V., Savci S., Ozunal I. E., Berk S., et al.

Hematology (Amsterdam, Netherlands) , cilt.23, sa.4, ss.212-220, 2018 (SCI-Expanded)

SYNE1 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 , cilt.38, sa.12, ss.2203-2207, 2017 (SCI-Expanded)

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 , ss.34-42, 2017 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

Holt R., Iseri S. A., Wyatt A. W., Bax D. A., Diaz D. G., Santos C., et al.

HUMAN GENETICS , cilt.136, sa.1, ss.119-127, 2017 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Differential Diagnosis of Bithalamic and Pallidal Hypointensity - a Case of HEXB Mutation

Akcakaya N. H., Ozdemir O., Gokcay F. G., Iseri S. A., Yapici Z.

CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE , cilt.80, sa.3, ss.343-345, 2017 (SCI-Expanded)

A novel gene mutation in <i>PANK2</i> in a patient with severe jaw-opening dystonia

Yapici Z., Akcakaya N. H., Tekturk P., Iseri S. A., Ozbek U.

BRAIN & DEVELOPMENT , sa.8, ss.755-758, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Screening 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 , cilt.120, ss.73-78, 2016 (SCI-Expanded)

A 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 , cilt.113, ss.5-10, 2015 (SCI-Expanded)

Identifying 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 , cilt.105, ss.92-102, 2013 (SCI-Expanded)

A 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 , cilt.20, sa.10, ss.1886-1892, 2011 (SCI-Expanded)

Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3

Duru N., UĞUR İŞERİ S. A., Selcuk N., TOLUN A.

JOURNAL OF NEUROGENETICS , cilt.24, sa.4, ss.207-215, 2010 (SCI-Expanded)

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 , cilt.18, ss.1121-6, 2010 (SCI-Expanded)

Use 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 , cilt.128, sa.1, ss.51-60, 2010 (SCI-Expanded)

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 , sa.5, ss.1310-1313, 2010 (SCI-Expanded)

Seeing 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 , cilt.30, sa.10, ss.1378-1386, 2009 (SCI-Expanded)

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 , cilt.50, ss.703-5, 2008 (SCI-Expanded)

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

Ugur S. A., Tolun A.

HUMAN MOLECULAR GENETICS , cilt.17, sa.17, ss.2644-2653, 2008 (SCI-Expanded)

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

Ugur S. A., Tolun A.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.16, sa.2, ss.261-264, 2008 (SCI-Expanded)

Mutations 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 , cilt.79, sa.4, ss.650-656, 2006 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Severe 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 , cilt.21, ss.333-7, 2006 (SCI-Expanded)

Identification 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 , cilt.14, ss.4-9, 2004 (SCI-Expanded)

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 , cilt.11, sa.11, ss.851-857, 2003 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS <i>CIC</i> AS A CANDIDATE GENE FOR ISOLATED DYSTONIA

Salman B., YÜCESAN E., SAMANCI B., BİLGİÇ B., HANAĞASI H. A., Gurvit I., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.84, sa.4, ss.457-463, 2021 (ESCI)

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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 , cilt.83, sa.3, ss.177-183, 2020 (ESCI)

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 , cilt.21, ss.1-7, 2019 (Hakemli Dergi)

Kopya Sayısı Değişikliklerinin SNP Array ile Tespiti- Detection of Copy Number Variations using SNP arrays

UĞUR İŞERİ S. A.

Türkiye Klinikleri J Pediatr Sci. , cilt.12, sa.4, ss.54-59, 2016 (Hakemli Dergi)

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 , cilt.3, sa.7, ss.22-27, 2015 (Hakemli Dergi)

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 , cilt.3, sa.7, ss.22-27, 2014 (Hakemli Dergi)

Nörogenetikte bağlantı analizinin kullanımı

UĞUR İŞERİ S. A., ÖZBEK U.

Türkiye Klinikleri J Neurol-Special Topics , cilt.4, sa.2, ss.11-15, 2011 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Nadir Nörogenetik Bir Hastalik Modeli Olarak Epileptik Ensefelopatilerde Trio Ekzom Dizileme Analizleri

Karaaslan Z., Salman B., Ovamigyan S. A., Kılıç M., Çırak S., Uğur İşeri S. A., et al.

59. Ulusal Nöroloji Kongresi, Antalya, Türkiye, 13 - 18 Aralık 2023, ss.25

Multiple Rating Scales in 17 patients with Mitochondrial-membrane Protein Associated Neurodegeneration

SAYMAN C., ÇAPAN N., TOPALOĞLU P., UĞUR İŞERİ S. A., ÖZDEMİR S., BASLO M. B., et al.

17th Congress of the European Forum for Research in Rehabilitation, 02 Kasım 2023

KRONİK MİYELOİD LÖSEMİ HASTALARINDA FARKLI BCR::ABL1 TRANSKRİPTLERİNİN KLİNİK YANSIMALARI

Ordu M., Erbilgin Y., Yılmaz U., Eşkazan A. E., Altındirek D., Uğur İşeri S. A., et al.

48. Ulusal Hematoloji Kongresi, Antalya, Türkiye, 1 - 05 Kasım 2022, ss.126-127

Kronik Miyeloid Lösemi Hastalarında Farklı BCR::ABL1 Transkriptlerinin Klinik Yansımaları

Ordu M., ERBİLGİN Y., YILMAZ U., EŞKAZAN A. E., UĞUR İŞERİ S. A., HATIRNAZ NG Ö., et al.

48. Ulusal Hematoloji Kongresi, Antalya, Türkiye, 1 - 05 Kasım 2022

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

ERBİLGİN Y., TUNCER F. N., UĞUR İŞERİ S. A., Khodzhaev K., ÖZBEK U.

Global Biobank Week, 13 - 15 Eylül 2017

Towards an Epilepsy Biobank

Haryanyan G., Özdemir Ö., Yücesan E., TUNCER F. N., Kesim F. Y., ERBİLGİN Y., et al.

Global Biobank Week, 13 - 15 Eylül 2017

Investing in the Future BIOBANK

ERBİLGİN Y., TUNCER F. N., Haryanyan G., Khodzhaev K., UĞUR İŞERİ S. A., ÖZBEK U.

European Biobank Week 2016, 13 - 16 Eylül 2016

Exome 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, İspanya, 21 - 26 Mayıs 2016, ss.175

Glut1 eksikliği sendromu klinik fenotipleri

KARA B., ÖZDEMİR Ö., MARAŞ GENÇ H., UYUR YALÇIN E., SAKARYA GÜNEŞ A., UĞUR İŞERİ S.

18. ULUSAL ÇOCUK NÖROLOJİ KONGRESİ, Antalya, Türkiye, 20 Nisan 2016

Correlation 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, İtalya, 15 - 18 Mayıs 2014, cilt.185

Kitap & Kitap Bölümleri

Nadir Nörolojik Hastalıklarda Gen Avcılığı

Uğur İşeri S. A.

Türkiye Klinikleri Tıbbi Genetik - Özel Konular, Prof. Dr. Uğur ÖZBEK, Editör, Türkiye Klinikleri Yayınevi, İstanbul, ss.56-63, 2021

Biyobankalar

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

Tıp Bilişimi, Nilgün Bozbuğa,Sevinç Gülseçen, Editör, Istanbul University, İstanbul, ss.159-169, 2021

Biyobankalamada Protokol ve Kalite Kılavuzu

ERBİLGİN Y., UĞUR İŞERİ S. A., Khodzhaev K., Haryanyan G.

İstanbul Medikal Sağlık ve Yayıncılık Hiz. Tic. Ltd. Şti., İstanbul, 2017

Diğer Yayınlar

Febril nöbet sonrası epileptogenez sürecinin araştırılması

Özdemir Ö., Uğur Işeri S. A.

Diğer, ss.1-100, 2017