Dr. Öğr. Üyesi YAVUZ OKTAY

Yayın Ağı

Makaleler 60

1. Investigating the Genetic Basis of Postpartum Depression: Overlap With Bipolar II and Divergence From MDD

Can G. S., OKTAY Y.

BIPOLAR DISORDERS , cilt.27, 2025 (SCI-Expanded)

2. Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights

Ak B., Akisu M., DURMAZ A., Yalaz M., TEREK D., Sonmezler E., et al.

BONE , cilt.197, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma

3. Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases

SARIKAYA UZAN G., Yaramış A. H., Sönmezler E., HIZ A. S., Yaramış A., YİŞ U., et al.

International Journal of Developmental Neuroscience , cilt.85, sa.5, 2025 (SCI-Expanded)

4. tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model

Cark O., Katkat E., Aydogdu I., Iscan E., Oktay Y., Ozhan G.

Molecular Neurobiology , cilt.62, sa.3, ss.3024-3039, 2025 (SCI-Expanded)

5. PGSXplorer: an integrated nextflow pipeline for comprehensive quality control and polygenic score model development

Yaraş T., OKTAY Y., KARAKÜLAH G.

PeerJ , cilt.13, sa.2, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma

6. Functional Annotation of Bipolar Disorder 2 Risk Location Implicates Novel Susceptibility Genes

Can G. S., Bakir E., OKTAY Y.

NEUROPSYCHOBIOLOGY , cilt.84, sa.2, ss.65-73, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma

7. The Rare Hackathon: An extracurricular educational event to promote rare disease awareness among students in medicine and life sciences

Utz B., Taskin E. E., Yigit A., Ozzeybek E., Bulut K., Sonmezler E., et al.

Rare , cilt.3, 2025 (Scopus)

8. Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye

Durmus S., Yucesan E., Aktug S., Utz B., Çağlayan A. O., Gencpinar P., et al.

FRONTIERS IN PUBLIC HEALTH , cilt.12, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma

9. Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

Falabella M., Pizzamiglio C., Tabara L. C., Munro B., Abdel-Hamid M. S., Sonmezler E., et al.

BRAIN , cilt.148, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

10. A microdeletion event at 19q13.43 in IDH-mutant astrocytomas is strongly correlated with MYC overexpression

Ülgen E., Gerlevik U., Gerlevik S., OKTAY Y., SEZERMAN O. U., Turcan Ş., et al.

Acta Neuropathologica Communications , cilt.12, sa.1, 2024 (SCI-Expanded)

11. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

Cavusoglu D., Ozturk G., Turkdogan D., Kurul S. H., Yis U., Komur M., et al.

CEREBELLUM , cilt.23, sa.5, ss.1950-1965, 2024 (SCI-Expanded, Scopus)

12. Functional analysis of a PTPMT1 splice-site mutation in patient-derived cells: A novel mitochondrial disease gene

Sonmezler E., HIZ A. S., Arslan D. O., Lochmueller H., Horvath R., OKTAY Y.

FEBS OPEN BIO , cilt.14, ss.466, 2024 (SCI-Expanded)

13. An API for dynamic estimation of reference intervals for functional abundances of gut microbiota

Binokay L., Oktay Y., Karakülah G.

BIOLOGIA , cilt.79, sa.1, ss.343-353, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

14. Expressions of the satellite repeat HSAT5 and transposable elements are implicated in disease progression and survival in glioma

Köse S. N., Yaraş T., Bursali A., OKTAY Y., Yandim C., KARAKÜLAH G.

Turkish Journal of Biology , cilt.48, sa.4, ss.242-256, 2024 (SCI-Expanded)

15. Üç Boyutlu Aljinat-bazlı Bir Matriste İnsan iPSC'lerinden Türetilmiş NPC’leri Kullanarak Gliomagenezin En Erken Aşamalarının Modellenmesi

EKİNCİ B., YARAŞ T., OKTAY Y.

İzmir Tepecik Eğitim Hastanesi Dergisi , cilt.33, sa.3, ss.362-373, 2023 (Hakemli Dergi)

16. Neuromuscular disease genetics in underrepresented populations: increasing data diversity.

Wilson L. A., Macken W. L., Perry L. D., Record C. J., Schon K. R., Frezatti R. S. S., et al.

Brain : a journal of neurology , cilt.146, ss.5098-5109, 2023 (SCI-Expanded, Scopus)

17. DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature

ÖZSOY Ö., ÇİNLETİ T., GÜNAY Ç., SARIKAYA UZAN G., YEŞİLMEN M. C., Lochmueller H., et al.

MOLECULAR SYNDROMOLOGY , cilt.14, ss.322-330, 2023 (SCI-Expanded, Scopus)

18. The Relationship Between Cardiovascular Disease Risk and Major Depression.

Targitay Ozturk B., ÖZEL F., YARAŞ T., EKİNCİ B., OKTAY Y., ONUR AYSEVENER B. E., et al.

Noro psikiyatri arsivi , cilt.60, sa.2, ss.124-128, 2023 (SCI-Expanded)

19. Comparative Transcriptome Analysis Identifies Target Genes for Treatment of IDH Wild-type Lower-grade Gliomas

Oztoprak F., Isik Z., Oktay Y.

İzmir Tepecik Eğitim Hastanesi Dergisi , cilt.33, sa.1, ss.100-119, 2023 (Hakemli Dergi) Sürdürülebilir Kalkınma

20. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

Lecca M., Pehlivan D., Suñer D. H., Weiss K., Coste T., Zweier M., et al.

American Journal of Human Genetics , cilt.110, sa.4, ss.681-690, 2023 (SCI-Expanded)

21. Associations Between Blood Levels of NLRP3 Inflammasome Components and Obsessive Compulsive Disorder

Tetik M., DİREK TECİRLİ N., Önder Uzgan B., Aykaç C., Ekinci B., Yaraş T., et al.

Noropsikiyatri Arsivi , cilt.60, sa.1, ss.28-36, 2023 (SCI-Expanded)

22. Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment

Okay K., ÜNAL VARIŞ P., MİRAL S., PAVLOPOULOU A., OKTAY Y., KARAKÜLAH G.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS , cilt.53, sa.3, ss.1091-1106, 2023 (SSCI)

23. Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.

Pizzamiglio C., Pitceathly R. D. S., Lunn M. P., Brady S., De Marchi F., Galan L., et al.

European journal of neurology , cilt.30, ss.399-412, 2023 (SCI-Expanded) Sürdürülebilir Kalkınma

24. StemnesScoRe: an R package to estimate the stemness of glioma cancer cells at single-cell resolution

Kochan N., OKTAY Y., Karakulah G.

TURKISH JOURNAL OF BIOLOGY , cilt.47, sa.6, 2023 (SCI-Expanded)

25. Editorial: Mental health: cell models to mechanisms

Harwood A. J., Petrakis S., OKTAY Y., Pasterkamp R. J.

Frontiers in Cell and Developmental Biology , cilt.11, 2023 (SCI-Expanded)

26. An in silico approach to the identification of diagnostic and prognostic markers in low-grade gliomas

Özbek M., Toy H. I., Oktay Y., Karakülah G., SUNER KARAKÜLAH A., Pavlopoulou A.

PeerJ , cilt.11, 2023 (SCI-Expanded)

27. Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Günay Ç., Aykol D., Özsoy Ö., Sönmezler E., Hancı Y. S., Kara B., et al.

Neuropediatrics , cilt.54, sa.4, ss.225-238, 2022 (SCI-Expanded, Scopus)

28. The Investigation of the Effects of a Novel Missense Mutation in Katanin-like 2 (KATNAL2) Gene on Microtubule-related Proteins in Patient Fibroblasts Using a Proteomic Approach

Hız A. S., Yaramış A., Sönmezler E., Oktay Y.

İzmir Tepecik Eğitim Hastanesi Dergisi , cilt.32, sa.3, ss.459-467, 2022 (Hakemli Dergi)

29. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

HIZ A. S., OKTAY Y., Topf A., Szabo N. Z., GÜNGÖR S., Yaramis A., et al.

BRAIN , cilt.145, sa.4, ss.1507-1518, 2022 (SCI-Expanded, Scopus)

30. Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?

KÖSE E., Cagatay E., Yaras T., Kisa P., Guler S., Gulten Z. A., et al.

TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.52, sa.4, ss.1075-1084, 2022 (SCI-Expanded)

31. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

Arlt A., Kohlschmidt N., Hentschel A., Bartels E., Gross C., Toepf A., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.17, sa.1, 2022 (SCI-Expanded)

32. Functional analysis of patient-derived cells harboring a homoygous likely-pathogenic KATNAL2 variant

HIZ A. S., Sonmezler E., YİŞ U., Oktay Y.

EPILEPSIA , cilt.62, ss.227-228, 2021 (SCI-Expanded)

33. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Richard E. M., Bakhtiari S., Marsh A. P. L., Kaiyrzhanov R., Wagner M., Shetty S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.108, sa.10, ss.2006-2016, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

34. Different selection dynamics of S and RdRp between SARS-CoV-2 genomes with and without the dominant mutations

Kochan N., Eskier D., SUNER KARAKÜLAH A., Karakulah G., OKTAY Y.

INFECTION GENETICS AND EVOLUTION , cilt.91, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

35. Alternative splicing and gene co-expression network-based analysis of dizygotic twins with autism-spectrum disorder and their parents

Okay K., Varis P. U., Miral S., Ekinci B., Yaras T., KARAKÜLAH G., et al.

GENOMICS , cilt.113, sa.4, ss.2561-2571, 2021 (SCI-Expanded)

36. Current mutatome of SARS-CoV-2 in Turkey reveals mutations of interest.

Eskier D., Akalp E., Dalan Ö., KARAKÜLAH G., OKTAY Y.

Turkish journal of biology = Turk biyoloji dergisi , cilt.45, sa.1, ss.104-113, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

37. **Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease**

GÜNGÖR S., OKTAY Y., Hiz S., Aranguren-Ibanez A., Kalafatcilar I., Yaramis A., et al.

ISCIENCE , cilt.24, sa.1, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

38. Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms

Ulgen E., Karacan S., Gerlevik U., CAN Ö., Bilguvar K., OKTAY Y., et al.

BIOMEDICINES , cilt.8, sa.12, 2020 (SCI-Expanded)

39. Mutations of SARS-CoV-2 nsp14 exhibit strong association with increased genome-wide mutation load

Eskier D., SUNER KARAKÜLAH A., OKTAY Y., KARAKÜLAH G.

PEERJ , cilt.8, 2020 (SCI-Expanded)

40. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

Paketci C., Edem P., Hiz S., Sonmezler E., Soydemir D., Uzan G., et al.

BRAIN & DEVELOPMENT , cilt.42, sa.7, ss.539-545, 2020 (SCI-Expanded)

41. Mutation density changes in SARS-CoV-2 are related to the pandemic stage but to a lesser extent in the dominant strain with mutations in spike and RdRp

Eskier D., SUNER KARAKÜLAH A., KARAKÜLAH G., OKTAY Y.

PEERJ , cilt.8, 2020 (SCI-Expanded)

42. RdRp mutations are associated with SARS-CoV-2 genome evolution

Eskier D., KARAKÜLAH G., SUNER KARAKÜLAH A., OKTAY Y.

PEERJ , cilt.8, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma

43. Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas

Ulgen E., CAN Ö., Bilguvar K., OKTAY Y., AKYERLİ BOYLU C., Danyeli A. E., et al.

JOURNAL OF NEUROSURGERY , cilt.132, sa.5, ss.1435-1446, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma

44. Severe neurodevelopmental disease caused by a homozygous TLK2 variant

Topf A., OKTAY Y., Balaraju S., Yilmaz E., Sonmezler E., YİŞ U., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.3, ss.383-387, 2020 (SCI-Expanded, Scopus)

45. y COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

Yaramis A., Lochmueller H., Topf A., Sonmezler E., Yilmaz E., Hiz S., et al.

NEUROLOGY-GENETICS , cilt.6, sa.1, 2020 (SCI-Expanded, Scopus)

46. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

OKTAY Y., GÜNGÖR S., Zeltner L., Wiethoff S., Schoels L., Sonmezler E., et al.

JOURNAL OF NEUROMUSCULAR DISEASES , cilt.7, sa.3, ss.301-308, 2020 (SCI-Expanded, Scopus)

47. Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

YİŞ U., Hiz S., Gunes S., Diniz G., Baydan F., Topf A., et al.

JOURNAL OF NEUROMUSCULAR DISEASES , cilt.6, sa.3, ss.377-384, 2019 (SCI-Expanded, Scopus)

48. Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas

AKYERLİ BOYLU C., Yuksel S., CAN Ö., Erson-Omay E. Z., OKTAY Y., Cosgun E., et al.

JOURNAL OF NEUROSURGERY , cilt.128, sa.4, ss.1102-1114, 2018 (SCI-Expanded)

49. Gliom Gelişiminde Genetik Yatkınlığın Rolü

OKTAY Y., AKYERLİ BOYLU C., ÖZDUMAN K.

Türk Nöroşirürji dergisi , cilt.27, sa.2, ss.122-130, 2017 (Hakemli Dergi)

50. Determinants of resistance to chemotherapy and ionizing radiation in breast cancer stem cells.

Pavlopoulou A., OKTAY Y., Vougas K., Louka M., Vorgias C. E., Georgakilas A. G.

Cancer letters , cilt.380, sa.2, ss.485-493, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma

51. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation

OKTAY Y., Ulgen E., CAN Ö., AKYERLİ BOYLU C., Yuksel S., Erdemgil Y., et al.

SCIENTIFIC REPORTS , cilt.6, 2016 (SCI-Expanded)

52. UCP2 regulates energy metabolism and differentiation potential of human pluripotent stem cells

Zhang J., Khvorostov I., Hong J. S., OKTAY Y., Vergnes L., Nuebel E., et al.

EMBO JOURNAL , cilt.30, sa.24, ss.4860-4873, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

53. Distinct energy metabolism in human pluripotent stem cells and differentiated cells regulated by UCP2

Zhang J., Khvorostov I., Hong J., OKTAY Y., Vergnes L., Nuebel E., et al.

CANCER RESEARCH , cilt.71, 2011 (SCI-Expanded)

54. PNPASE Regulates RNA Import into Mitochondria

Wang G., Chen H., OKTAY Y., Zhang J., Allen E. L., Smith G. M., et al.

CELL , cilt.142, sa.3, ss.456-467, 2010 (SCI-Expanded)

55. Cardiolipin defines the interactome of the major ADP/ATP carrier protein of the mitochondrial inner membrane

Claypool S. M., OKTAY Y., Boontheung P., Loo J. A., Koehler C. M.

JOURNAL OF CELL BIOLOGY , cilt.182, sa.5, ss.937-950, 2008 (SCI-Expanded)

56. Hypoxia-inducible factor 2 alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin

OKTAY Y., Dioum E., Matsuzaki S., Ding K., Yan L., Haller R. G., et al.

JOURNAL OF BIOLOGICAL CHEMISTRY , cilt.282, sa.16, ss.11750-11756, 2007 (SCI-Expanded)

57. The Function of TIM22 in the Insertion of Inner Membrane Proteins in Mitochondria

OKTAY Y., Rainey R. N., Koehler C. M.

ENZYMES: MOLECULAR MACHINES INVOLVED IN PROTEIN TRANSPORT ACROSS CELLULAR MEMBRANES, VOL 25 , cilt.25, ss.367-385, 2007 (SCI-Expanded)

58. FEF-2 alpha regulates murine hematopoietic development in an erythropoietin-dependent manner

Scortegagna M., Ding K., Zhang Q., OKTAY Y., Bennett M., Bennett M., et al.

BLOOD , cilt.105, sa.8, ss.3133-3140, 2005 (SCI-Expanded)

59. Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1(-/-) mice

Scortegagna M., Ding K., OKTAY Y., Gaur A., Thurmond F., Yan L., et al.

NATURE GENETICS , cilt.35, sa.4, ss.331-340, 2003 (SCI-Expanded)

60. The HIF family member EPAS1/HIF-2 alpha is required for normal hematopoiesis in mice

Scortegagna M., Morris M., OKTAY Y., Bennett M., Garcia J.

BLOOD , cilt.102, sa.5, ss.1634-1640, 2003 (SCI-Expanded)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 30

1. Investigating the Impact of IDH1 Mutation on Monocyte Differentiation Transcriptome in Early Glioma Development

Bakir E., OKTAY Y.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1268, (Özet Bildiri)

2. Enhancing genomic data sharing with blockchain-enabled dynamic consent in Beacon v2

Binokay L., Celik H. M., Gurdal G., Ayav T., Tuglular T., OKTAY Y., et al.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1635-1636, (Özet Bildiri)

3. Enhancing genomic data sharing with blockchainenabled dynamic consent in Beacon v2

Binokay L., Celik H. M., Gurdal G., Ayav T., Tuglular T., OKTAY Y., et al.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1635-1636, (Özet Bildiri)

4. Investigation of the Effects of Mutations in the FYR Module of Kabuki Syndrome-Associated KMT2D Gene on Protein Interactions and Chromatin Organization

Özden Yılmaz G., Yılmazbilek İ., Ölmez Türker A., Ozkan Kucuk N. E., ÖZLÜ SICAKKAN N., KARAKÜLAH G., et al.

9th International Congress of the Molecular Biology Association of Turkey, İzmir, Türkiye, 12 - 14 Eylül 2024, (Özet Bildiri)

5. Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome

Falabella M., Pizzamiglio C., Tabara L. C., Munro B., Abdel-Hamid M. S., Sonmezler E., et al.

22nd European Bioenergetics Conference (EBEC), Innsbruck, Avusturya, 26 - 31 Ağustos 2024, cilt.1865, ss.103, (Özet Bildiri)

6. Integrative analyses to identify candidate causal genes for bipolar 2 disorder

Bakir E., Can G., OKTAY Y.

26th Annual Conference of the International-Society-for-Bipolar-Disorders (ISBD), Reykjavik, İzlanda, 29 Eylül - 01 Ekim 2024, ss.127, (Özet Bildiri)

7. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Hız A. S., Oktay Y., Töpf A., Szabo N., Güngör S., Yaramış A., et al.

55th European Society of Human Genetics Congress, Vienna, Avusturya, 9 - 12 Mayıs 2023, ss.466-467, (Özet Bildiri)

8. Development of methods and tools in NPCs and zebrafish towards modeling of DNA sequence variants in patients with pachygyria by using genome editing technologies

Kuruoglu A., HIZ A. S., Cark O., Gencpinar P., Bora R. U., KARAKÜLAH G., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, cilt.31, ss.477-478, (Özet Bildiri)

9. Modelling the earliest stages of gliomagenesis using iNPCs in a three-dimensional alginate-based matrix

Ekinci B., Yaras T., OKTAY Y.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, ss.658, (Özet Bildiri)

10. Epigenomic and transcriptomic analysis of the intrinsic and extrinsic molecular mechanisms at the earliest stages of gliomagenesis in precancerous cell models

Yaras T., Ekinci B., Diler E., OKTAY Y.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, ss.658-659, (Özet Bildiri)

11. Pontoserebellar Hipoplazi Nedeni Olarak Cask Gen Mutasyonu

SARIKAYA UZAN G., PAKETÇİ C., EDEM P., SOYDEMİR D., YİŞ U., OKTAY Y., et al.

II. Mersin Çocuk Nörolojisi Kış Sempozyumu, Mersin, Türkiye, 8 - 09 Kasım 2019, ss.34, (Özet Bildiri)

12. Developing Combinatorial Therapies Towards Gliomas by Network-Based Analysis of Whole Transcriptome Data

Öztoprak F., IŞIK Z., OKTAY Y.

7th International Congress of the Molecular Biology Association of Turkey, İstanbul, Türkiye, 27 - 29 Eylül 2019, (Özet Bildiri)

13. Unexpected genetic diagnosis of mitochondrial disease in three consanguineous Turkish families

Topf A., OKTAY Y., Balaraju S., YILMAZ E., Sonmezler E., Yaramis A., et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.183, (Özet Bildiri)

14. New International Centre for Genomic Research in NMD, Turkey

OKTAY Y.

12th UK Neuromuscular Translational Research Conference, Newcastle upon Tyne, Birleşik Krallık, 4 - 05 Nisan 2019, (Özet Bildiri)

15. Understanding lower-grade glioma progression by integrative analysis of glioblastoma recurrence

Öztoprak F., Okay K., IŞIK Z., OKTAY Y.

11th International Symposium on Health Informatics and Bioinformatics, 25 - 27 Ekim 2018, (Özet Bildiri)

16. Unexpected genetic diagnosis of mitochondrial disease in three consanguineous Turkish families

Topf A., OKTAY Y., Balaraju S., Yilmaz E., Sonmezler E., Yaramis A., et al.

23rd International Annual Congress of the World-Muscle-Society (WMS), Mendoza, Arjantin, 2 - 06 Ekim 2018, cilt.28, (Özet Bildiri)

17. NDUFA12 Gen Mutasyonu Saptanan İki Kardeşte Farklı Fenotipik Prezentasyon

YİŞ U., HIZ A. S., OKUR T. D., MANYAS H., PAKETÇİ C., BAYRAM E., et al.

20. Ulusal Çocuk Nörolojisi Kongresi, Kıbrıs (Kktc), 2 - 06 Mayıs 2018, ss.172, (Özet Bildiri)

18. Sample transport, registration and sample processing

OKTAY Y.

INTERNATIONAL WORKSHOP ONBIOBANKING FOR RARE DISEASES, Türkiye, 2 - 03 Mayıs 2018

19. NDUFS3 Gen Mutasyonu İlişkili Atipik Bir Leigh Sendromu

HIZ A. S., YİŞ U., OKUR T. D., MANYAS H., PAKETÇİ C., BAYRAM E., et al.

20. Ulusal Çocuk Nörolojisi Kongresi, Kıbrıs (Kktc), 2 - 06 Mayıs 2018, ss.169, (Özet Bildiri)

20. GLİOMA İLİŞKİLİ 8Q24.21 ‘DE LOKALİZE RS55705857 TEK NÜKLEOTİD POLİMORFİZMİNİN FONKSİYONEL ANALİZİ

Şahin H. M., Kurtça M., Kendigelen O., Ekinci B., OKTAY Y.

Dokuz Eylül Üniversitesi XI. Özel Çalışma Modülleri Sempozyumu, İzmir, Türkiye, 22 Eylül 2017, ss.44, (Özet Bildiri)

21. Kodlanmayan genom varyantlarının biyolojisi ve fonksiyonel anlamlandırılması

OKTAY Y.

XV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 26 - 29 Ekim 2017, (Özet Bildiri)

22. Biyobelirteçler ve Omiks

OKTAY Y.

II. Türkiye in vitro Diyagnostik (IVD) Sempozyumu, Türkiye, 10 - 12 Mayıs 2017, (Özet Bildiri)

23. The effect of cardiolipin on mitochondrial dynamics upon induction of autophagy in yeast

ÖZ ARSLAN D., GÜLEN K., BİLGE B., ÜSTÜNER B., KILINÇ E., KAN B., et al.

Autophagy Network Integration in Health and Disease. Keystone Symposia, Amerika Birleşik Devletleri, 12 - 16 Şubat 2017, (Özet Bildiri)

24. Investigation of the role of cardiolipin on autophagy in the yeast model

ÖZ ARSLAN D., Kilickaya G., Bilge B., Ustuner B., Kilinc E., Kan B., et al.

41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Türkiye, 3 - 08 Eylül 2016, cilt.283, ss.68-69, (Özet Bildiri)

25. Gliom Riskini Düzenleyen Yeni Bir MYC Enhanser ve Risk Varyantının Belirlenmesi

OKTAY Y.

14. UIusal Sinirbilim Kongresi, Türkiye, 26 - 29 Mayıs 2016, cilt.10, ss.2, (Özet Bildiri)

26. An Integrated approach to gliomas From epidemiology to omics based analyses of tumors

OKTAY Y.

Metabolizma ve Kanser Sempozyumu, İzmir, Türkiye, 10 Mayıs 2016

27. The relationship between mitochondrial dysfunction and autophagy in yeast

ÖZ ARSLAN D., Kılıçkaya g., Üstüner B., Çetin E., OKTAY Y.

Autophagy signalling and progression in health and disease, Chiba, Japonya, 9 - 12 Eylül 2015

28. An analysis for the role of telomerase hTERT promoter mutations in gliomagenesis

ÖZDUMAN K., AKYERLİ BOYLU C., YÜKSEL Ş., CAN Ö., OKTAY Y., Nanni P., et al.

82nd Annual Scientific Meeting of the American-Association-of-Neurological-Surgeons, San Francisco-California, Amerika Birleşik Devletleri, 5 - 09 Nisan 2014, cilt.122, ss.1563-1564, (Özet Bildiri)

29. Increased risk of gliomas in rs55705857 risk-allele carriers may be explained by immune mechanisms

OKTAY Y., ülgen e., CAN Ö., AKYERLİ BOYLU C., YÜKSEL Ş., YAKICIER M. C., et al.

83rd American Association of Neurological Surgeons Annual Scientific Meeting, Amerika Birleşik Devletleri, 2 - 06 Mayıs 2015, (Özet Bildiri)

30. Involvement of Cardioplipin in Yeast Autophagy

ÖZ ARSLAN D., eda g., OKTAY Y.

Symposium « Autophagy & Cancer » and First Joint Meeting of Nordic, Spanish and French Autophagy Networks (NSF), Toulouse, Fransa, 15 - 18 Eylül 2014

Kitaplar 4

Metrikler

Yayın

101

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

2310

H-İndeks (WoS)

Atıf (Scopus)

2352

H-İndeks (Scopus)

Atıf (Scholar)

3431

H-İndeks (Scholar)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Sobiad)

H-İndeks (Sobiad)

Atıf (Diğer Toplam)

Proje

Tez Danışmanlığı

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Sobiad)

H-İndeks (Sobiad)

Atıf (Diğer Toplam)

Proje

Tez Danışmanlığı

Açık Erişim