Publications & Works

Publication Network
Articles 62
All (62)
SCI-E, SSCI, AHCI (54)
SCI-E, SSCI, AHCI, ESCI (57)
ESCI (3)
Scopus (56)
TRDizin (4)
Other Publications (4)

1. QSM-Based Evidence of Brain Iron Accumulation in THAP1 Dystonia with Biallelic Mutation

Tarhan G., Kamaci I., Dusek P., Çapan N., Sayman C., Turan C., et al.
MOVEMENT DISORDERS CLINICAL PRACTICE , vol.13, no.4, pp.1104-1107, 2026 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

2. A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Susgun S., Kizek O., Ugur Iseri S. A., Kamaci I., Elmali A. D., Iscen P., et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY , vol.13, no.3, pp.453-465, 2026 (SCI-Expanded, Scopus) Creative Commons License Sustainable Development identifier identifier identifier

3. XhetRel: a pipeline for X heterozygosity and relatedness analysis of sequencing data

Salman B., Bebek N., Uğur İşeri S.
Bioinformatics Advances , vol.6, no.1, 2026 (ESCI, Scopus) identifier identifier identifier

4. Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing

Salman B., Kesim Y., Şirin N. G., Süsgün S., ALTIOKKA UZUN G., Uğur İşeri S., et al.
Noropsikiyatri Arsivi , vol.63, pp.180-186, 2026 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

5. Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Uygun Ö., Özcan A., Aras F. K., Bozdemir E., Uğur İşeri S., Gültekin M., et al.
Annals of Clinical and Translational Neurology , vol.12, no.11, pp.2305-2316, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

6. Missense variants in PKAN: insights from a multi-patient genetic analysis

Kılıç M., Mercan S., Barut B. Ö., Demirkıran D. M., Yalçın Çakmaklı G., Akçakaya N. H., et al.
NEUROGENETICS , vol.26, no.1, 2025 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

7. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Berkovic S. F., Neale B. M., Zsurka G., Zizovic M., Zimprich F., Zara F., et al.
Nature Neuroscience , vol.27, no.10, pp.1864-1879, 2024 (SCI-Expanded, Scopus) Creative Commons License Sustainable Development identifier identifier

8. 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 , vol.45, no.5, pp.2271-2277, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

9. Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

Susgun S., Ben-Mahmoud A., Rüschendorf F., Ku B., Hussain S. I., Schulz S., et al.
Human Mutation , vol.2024, 2024 (SCI-Expanded) Sustainable Development identifier identifier

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

Susgun S., Demirel M., Yalçın Çakmaklı G., Salman B., Oguz K. K., Elibol B., et al.
International Journal of Neuroscience , vol.134, no.10, pp.1040-1045, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

11. 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 , vol.14, no.1, pp.4392, 2023 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

12. 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 , vol.44, no.7, pp.2527-2540, 2023 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

13. 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 , vol.54, no.2, pp.160-163, 2023 (SCI-Expanded) identifier identifier identifier

14. 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 , vol.10, 2023 (SCI-Expanded, SSCI, Scopus) Creative Commons License identifier identifier identifier

15. 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 , vol.45, no.1, pp.13-21, 2023 (SCI-Expanded, Scopus) Creative Commons License identifier identifier

16. 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 , vol.28, no.6, pp.488-492, 2022 (SCI-Expanded, Scopus) identifier identifier

17. 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 , vol.29, pp.626, 2022 (SCI-Expanded, Scopus) identifier

18. 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 , vol.44, no.6, pp.391-400, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

19. 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 , vol.28, no.1, pp.37-41, 2022 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

20. 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 , vol.66, no.12, pp.1145-1151, 2021 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

21. 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 , vol.72, 2021 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

22. 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 , vol.62, no.7, pp.1518-1527, 2021 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

23. 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 , no.6, pp.965-982, 2021 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

24. COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC 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 , vol.84, no.4, pp.457-463, 2021 (ESCI, Scopus, TRDizin) Creative Commons License identifier identifier

25. 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 (ESCI, TRDizin) identifier

26. 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 , vol.1732, pp.146652, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

27. 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 , vol.142, no.11, pp.3473-3481, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

28. 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 (TRDizin)

29. 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 , no.2, pp.267-282, 2019 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

30. 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 , vol.64, no.5, pp.421-426, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

31. 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 , vol.21, no.1, pp.54-59, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

32. 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 , vol.14, no.2, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

33. 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 (SCI-Expanded, Scopus) identifier identifier identifier

34. 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 , vol.39, no.12, pp.2123-2128, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

35. 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 , vol.20, no.5, pp.396-400, 2018 (SCI-Expanded) identifier identifier identifier

36. 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 , vol.40, no.6, pp.458-464, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

37. 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) , vol.23, no.4, pp.212-220, 2018 (SCI-Expanded) identifier identifier identifier

38. 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 , vol.38, no.12, pp.2203-2207, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

39. 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 , pp.34-42, 2017 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

40. 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 , vol.80, no.3, pp.343-345, 2017 (SCI-Expanded) identifier identifier

41. 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 , vol.136, no.1, pp.119-127, 2017 (SCI-Expanded) Sustainable Development identifier identifier identifier

42. 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 (Peer-Reviewed Journal)

43. 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 , no.8, pp.755-758, 2016 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

44. 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 , vol.120, pp.73-78, 2016 (SCI-Expanded, Scopus) identifier identifier identifier

45. 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 , vol.113, pp.5-10, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

46. 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, no.7, pp.22-27, 2014 (Peer-Reviewed Journal)

47. Tüm Genom SNP Genotipleme ile Trizomi 21 ve Ebeveyn Etkisinin Tespiti

Kesim Y., TUNCER F. N., Yücesan E., Özdemir Ö., ÇALIK M., ÖZBEK U., et al.
EXPERIMED , 2014 (Peer-Reviewed Journal)

48. 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 , vol.105, pp.92-102, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

49. 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 , vol.20, no.10, pp.1886-1892, 2011 (SCI-Expanded, Scopus) identifier identifier identifier

50. Nörogenetikte bağlantı analizinin kullanımı

UĞUR İŞERİ S. A., ÖZBEK U.
Türkiye Klinikleri J Neurol-Special Topics , vol.4, no.2, pp.11-15, 2011 (Peer-Reviewed Journal)

51. 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 , vol.24, no.4, pp.207-215, 2010 (SCI-Expanded) identifier

52. 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 (SCI-Expanded, Scopus) identifier identifier identifier

53. 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 , vol.128, no.1, pp.51-60, 2010 (SCI-Expanded, Scopus) identifier identifier identifier

54. 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 , no.5, pp.1310-1313, 2010 (SCI-Expanded) identifier identifier identifier

55. 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 , vol.30, no.10, pp.1378-1386, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

56. 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 (SCI-Expanded, Scopus) identifier identifier identifier

57. 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 (SCI-Expanded, Scopus) identifier identifier identifier

58. 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 (SCI-Expanded, Scopus) identifier identifier identifier

59. 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 , vol.79, no.4, pp.650-656, 2006 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

60. 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 , vol.21, pp.333-7, 2006 (SCI-Expanded, Scopus) identifier identifier identifier

61. 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 , vol.14, pp.4-9, 2004 (SCI-Expanded, Scopus) identifier identifier identifier

62. 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 (SCI-Expanded, Scopus) identifier identifier identifier
Papers Presented at Peer-Reviewed Scientific Conferences 38

1. Trio Ekzom Dizileme ile De Novo Varyant Saptanan Gelişimsel ve Epileptik Ensefalopati Olgusu

Kılıç M., Kizek Ö., Ovagimyan A., Salman B., Dörtkol O., Uğur İşeri S. A., et al.
3. Nörogenetik ve Nörometabolizma Kongresi ve 12.Nadir Hastalıklar Okulu, İstanbul, Turkey, 9 - 12 April 2026, (Unpublished)

2. Unraveling the genetic complexity of neurodevelopmental disorders: insights from autosomal recessive and de novo variants in a consanguineous family

Susgun S., Kesim Y., Salman B., YÜCESAN E., TUNCER KILINÇ F. N., ÇALIK M., et al.
58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, Italy, 24 - 27 May 2025, vol.33, pp.279-280, (Summary Text) identifier

3. Characterizing Immune Cell Dynamics in Anti-NMDAR Encephalitis via Single-Cell Transcriptomics

Şanlı E., Karaaslan Z., Yılmaz V., Uygunoğlu U., Uğur İşeri S. A., Tüzün E.
IMMUNOLOGY2025, Hawaii, United States Of America, 3 - 07 May 2025, (Unpublished)

4. ISTisNA Platform: A Comprehensive Biobank Network for Rare and Undiagnosed Diseases

Kasap B., Kılıç M., Uğur İşeri S. A.
Europe Biobank Week Congress , Vienna, Austria, 14 - 17 May 2024, pp.1, (Summary Text)

5. ISTisNA Platform: A Comprehensive Biobank Network for Rare and Undiagnosed Diseases

Antmen F. M., KASAP B., Erdogan C., Kılıç M., Kocaaga S., Önder G., et al.
Europe Biobank Week Congress 2024, Viyana, Austria, 14 - 17 May 2024, (Summary Text)

6. Mitokondriyal-Membran Proteini İlişkili Nörodejenerasyona Neden Olan C19orf12 Geni 5’UTR Varyantının İn Siliko Analizleri

Kılıç M., Salman B., Süsgün S., Yücesan E., Uğur İşeri S. A., Yapıcı Obuz Z.
1. Nörogenetik ve Nörometabolizma Kongresi, İstanbul, Turkey, 9 - 11 May 2024, (Unpublished)

7. 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, Turkey, 13 - 18 December 2023, pp.25, (Summary Text)

8. 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 November 2023, (Full Text)

9. Two candidate genes with biallelic variants associated with a neurodevelopmental disorder in a consanguineous family from Turkey

Susgun S., Kesim Y., Salman B., YÜCESAN E., Khalilov D., ŞİRİN İNAN N. G., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.202, (Summary Text) identifier

10. 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, Turkey, 1 - 05 November 2022, pp.126-127, (Full Text)

11. Investigation of GLUT1 mutation in patients with genetic generalized epilepsy presenting with eyelid myoclonia

altokka uzun g., özdemir ö., UĞUR İŞERİ S. A., TUNCER F. N., ÖZBEK U., GÜRSES R. C., et al.
32nd International Epilepsy congress, 2 - 06 September 2017, (Summary Text)

12. Sendromik Zihinsel Yetmezlikte Tespit Edilen Yeni Bir Gen ve In-Vitro Karakterizasyonu

Kesim F. Y., TUNCER F. N., Altıokka Uzun G., ÇALIK M., ÖZBEK U., UĞUR İŞERİ S. A.
53. Ulusal Nöroloji Kongresi, Turkey, 24 - 30 November 2017, (Summary Text)

13. 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 September 2017, (Summary Text)

14. 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 September 2017, (Summary Text)

15. 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 September 2016

16. Benign Familyal İnfantil Konvülsiyona Sahip Bireyleri olan Geniş Bir Ailede PRRT2 Gen Analizinin Gerçekleştirilmesi

TUNCER F. N., UĞUR İŞERİ S. A., KARA B., Maraş Genç H., ÖZBEK U.
10. Ulusal Epilepsi Kongresi, Turkey, 12 - 15 May 2016, (Summary Text)

17. Genetic analysis of delayed motor mental development and Unverricht Lundborg disease in a large highly consanguineous family from Turkey P08 61

Yücesan E., TUNCER F. N., ÇALIK M., BEBEK N., ÖZBEK U., UĞUR İŞERİ S. A.
European Human Genetics Conference 2016, 21 - 24 May 2016, vol.2016, pp.236

18. Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability P08 83

Kesim F. Y., ÇALIK M., TUNCER F. N., Altıokka Uzun G., İŞCAN A., ÖZBEK U., et al.
European Human Genetics Conference 2016, 21 - 24 May 2016

19. A novel mutation in PCDH19 enabled genetic diagnosis as Epilepsy and Mental Retardation Limited to Females P09 065

TUNCER F. N., UĞUR İŞERİ S. A., KARA B., Maraş Genç H., Uyur Yalçın E., ÖZBEK U.
European Human Genetics Conference 2016, 21 - 24 May 2016, vol.2016, pp.268

20. Exome Sequencing Combined with Linkage Analysis Identifies a Novel Gene Associated with a Syndromic Form of Intellectual Disability

Kesim Y., Çalık M., Tuncer F. N., İşcan A., Uzun G., Özbek U., et al.
European Society of Human Genetics 2016, Barselona, Spain, 21 - 26 May 2016, pp.175, (Full Text)

21. Lateral Temporal Lob Epilepsi Hastalarında Gerçekleştirilen LGI1 Taramasında Yeni Bir De Novo Mutasyon Tespiti

Kesim F. Y., Atıokka Uzun G., Yücesan E., TUNCER F. N., Özdemir Ö., BEBEK N., et al.
10. Epilepsi Kongresi, İzmir, Turkey, 12 - 15 May 2016

22. Lateral Temporal Lob Epilepsi Hastalarında Gerçekleştirilen LGI1 Taramasında Yeni Bir De Novo Mutasyon Tespiti

Kesim Y., ALTIOKKA UZUN G., YÜCESAN E., TUNCER KILINÇ F. N., Özdemir Ö., BEBEK N., et al.
10. Ulusal Epilepsi Kongrei, Turkey, 12 - 15 May 2016

23. 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, Turkey, 20 April 2016, (Summary Text)

24. Krabbe Hastalığı Yeni bir GALC gen varyantının tespiti ile akraba evliliği yapmış ailede ayırıcı tanı sağlanması

TUNCER F. N., UĞUR İŞERİ S. A., ÇALIK M., Abuhandan M., Karakaş Ö., Demir M., et al.
3. Nörometabolik Dismorfoloji Sempozyumu, İstanbul, Turkey, 10 - 12 March 2016

25. Krabbe Hastalığı Yeni bir GALC gen varyantının tespiti ile akraba evliliği yapmış ailede ayırıcı tanı sağlanması

TUNCER F. N., UĞUR İŞERİ S. A., ÇALIK M., ABUHANDAN M., karakaş Ö., DEMİR M., et al.
3. Nörometabolik Dismorfoloji Sempozyumu., İstanbul, Turkey, 10 - 12 March 2016, (Summary Text)

26. MKA/MR bulguları olan akraba evliliği yapmış bir ailede ekzom dizileme ve bağlantı analizi ile novel gen tespiti

Kesim F. Y., TUNCER KILINÇ F. N., ÇALIK M., ÖZBEK U., UĞUR İŞERİ S. A.
7. DETAE Günleri, Turkey, 11 - 12 November 2015, (Summary Text)

27. Çoklu doğumsal anomali zihinsel yetersizlik ile ULD hastalığı tanılı bireyler içeren otozomal resesif geçiş gösteren ve akraba evliliği yapmış bir ailede genetik analizler

emrah y., TUNCER F. N., ÇALIK M., İŞCAN A., UĞUR İŞERİ S. A., ÖZBEK U.
2. Ulusal Çocuk Genetik Sempozyumu, Turkey, 22 - 24 October 2015, (Full Text)

28. Çoklu doğumsal anomali zihinsel yetersizlik ile ULD hastalığı tanılı bireyler içeren otozomal resesif geçiş gösteren ve akraba evliliği yapmış bir ailede genetik analizler

emrah y., TUNCER F. N., ÇALIK M., İŞCAN A., UĞUR İŞERİ S. A., ÖZBEK U.
2. Ulusal Çocuk Genetik Sempozyumu, Turkey, 22 - 24 October 2015, (Full Text)

29. Akraba evliliği yapmış geniş bir ailede birbirinden bağımsız gözlenen Unverricht-Lundborg Hastalığı ve Motor Mental Gelişim Geriliğinin genetik olarak incelenmesi

Yücesan E., TUNCER KILINÇ F. N., ÇALIK M., BEBEK N., ÖZBEK U., UĞUR İŞERİ S. A.
II. Ulusal Çocuk Genetik Sempozyumu, Turkey, 22 - 24 October 2015, (Summary Text)

30. Akraba Evliliği Yapmış Geniş Bir Ailede Birbirinden Bağımsız Olarak Gözlenen Unverricht-Lundborg Hastalığı ve Motor Mental Gelişme Geriliğinin Genetik Olarak İncelenmesi

YÜCESAN E., TUNCER KILINÇ F. N., ÇALIK M., BEBEK N., ÖZBEK U., UĞUR İŞERİ S. A.
2. Ulusal Çocuk Genetik Sempozyumu, Turkey, 22 - 24 October 2015

31. A novel mutation in LGI1 gene found in a series of consecutiveepileptic patients with auditory aura

ye k., UĞUR İŞERİ S. A., güneş u., em g., TUNCER F. N., oz o., et al.
European Human GeneticsConference 2015, 6 - 09 June 2015

32. Elongation factor associated with intellectual disability and delayedmotor development

emrah y., fatma yeşim k., TUNCER F. N., ÇALIK M., İŞCAN A., UĞUR İŞERİ S. A., et al.
European Human Genetics Conference, 6 - 09 June 2015

33. A clinical variant in SCN1A inherited from a mosaic fathercosegregates with a novel variant to cause Dravet syndrome in aconsanguineous family

TUNCER F. N., İŞCAN A., BAYKAL B., BEBEK N., ÇALIK M., UĞUR İŞERİ S. A., et al.
European Human Genetics Conference, 6 - 09 June 2015

34. SCN1A Klinik Varyantı ile Ko-Segregasyon Gösteren Tanımlanmamış Bir Varyantın Dravet Sendromu ile İlişkilendirilmesi

TUNCER KILINÇ F. N., Görmez Z., ÇALIK M., Altıokka Uzun G., Sağıroğlu M. S., Yücetürk B., et al.
6. DETAE Günleri, Turkey, 24 - 25 November 2014, (Summary Text)

35. 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, Italy, 15 - 18 May 2014, vol.185, (Summary Text) identifier

36. İdiyopatik Jeneralize Epilepsili Ailelerde Tüm Genom Bağlantı Analizi

YÜCESAN E., KARACAN İ., UĞUR İŞERİ S. A., TUNCER KILINÇ F. N., Özdemir Ö., BEBEK N., et al.
8. Ulusal Epilepsi Kongresi, Turkey, 24 - 27 May 2012

37. Genetic Analysis of SLC2A1 Gene Coding Glucose Transporter GLUT1 in Turkish Idiopathic Generalized Epilepsy Patients

KARACAN i., UĞUR İŞERİ S. A., ÖZDEMİR Ö., TUNCER F. N., YÜCESAN E., BEBEK N., et al.
29th International Epilepsy Congress, 28 August - 01 September 2011

38. Whole Genome Linkage Analysis in a Large Consanguineous Turkish Family with Idiopathic Generalized Epilepsy

TUNCER KILINÇ F. N., YÜCESAN E., Özdemir Ö., KARACAN İ., UĞUR İŞERİ S. A., BEBEK N., et al.
European Human Genetics Conference, 28 - 31 May 2011
Books 4

1. Temel Genetik Kavramlar

Güven Z. G., Yalçın Çapan Ö., Uğur İşeri S. A. (Editor)
in: Tanıdan Tedaviye Nörogenetik, Hacer Durmuş,Nerses Bebek,Sibel Uğur İşeri,Esra Battaloğlu, Editor, Bayçınar Tıbbi Yayıncılık, Ankara, pp.11-13, 2024

2. 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

3. Biyobankalar

Erbilgin Y., Uğur İşeri S. A., Özbek U.
in: Tıp Bilişimi, Nilgün Bozbuğa,Sevinç Gülseçen, Editor, Istanbul University, İstanbul, pp.159-169, 2021

4. 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
Other Publications 1

1. Febril nöbet sonrası epileptogenez sürecinin araştırılması

Özdemir Ö., Uğur Işeri S. A.
Other, pp.1-100, 2017