Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

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

Binokay L., OKTAY Y., KARAKÜLAH G.
BIOLOGIA , 2023 (SCI-Expanded) identifier identifier

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 , 2023 (SCI-Expanded) Creative Commons License identifier

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) identifier identifier

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) identifier identifier

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 , 2023 (SCI-Expanded) identifier

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) identifier identifier

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 , sa.3, ss.1091-1106, 2023 (SSCI) identifier identifier

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, 2023 (SCI-Expanded) identifier identifier

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) identifier identifier

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) identifier identifier

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 , 2022 (SCI-Expanded) identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier

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) Creative Commons License identifier identifier identifier identifier

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 identifier identifier

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) identifier identifier identifier

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 identifier identifier identifier

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 identifier identifier identifier

Autosomal recessive variants in TUBGCP2 alter the gamma-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) Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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) identifier identifier identifier

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 identifier identifier identifier

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 identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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 , sa.1, 2020 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) identifier identifier identifier

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 identifier identifier identifier

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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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 identifier identifier identifier

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) identifier

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) identifier identifier identifier

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) identifier identifier identifier

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) identifier identifier identifier

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) identifier

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) identifier identifier identifier

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) identifier identifier identifier

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) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

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 identifier

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) Creative Commons License

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)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

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 identifier

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 identifier

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

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 identifier

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

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

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 identifier

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

Sample transport, registration and sample processing

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

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

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

Kodlanmayan genom varyantlarının biyolojisi ve fonksiyonel anlamlandırılması

OKTAY Y.
XV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 26 - 29 Ekim 2017

Biyobelirteçler ve Omiks

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

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

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 identifier

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

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

OKTAY Y.
Metabolizma ve Kanser Sempozyumu, İzmir, Türkiye, 10 Mayıs 2016

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

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

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

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

Kitap & Kitap Bölümleri

Metabolomiks ve Uygulamaları

Oktay Y.
Moleküler Biyoloji ve Genetik: Sağlık Alanında ve Biyoteknoloji İleri Uygulamalar, Prof. Dr. Mustafa Solak, Editör, Türkiye Bilimler Akademisi, Ankara, ss.311-320, 2023 Creative Commons License

Medical Genetics

OKTAY Y., AĞIRBAŞLI D., Dalva Aydemir S., AKYERLİ BOYLU C., MÜFTÜOĞLU M., YAKICIER M. C.
Current Applications of Biotechnology, , Editör, Kayseri Üniversitesi - mgroup, Kayseri, ss.299-317, 2015

Fonksiyonel Genomik

YAKICIER M. C., AĞIRBAŞLI D., AKYERLİ BOYLU C., OKTAY Y.
Moleküler Üroloji, Türkeri L, Özer A, Narter F, Editör, Üroonkoloji Derneği, İstanbul, İstanbul, ss.191-203, 2012

The function of TIM22 in the insertion of inner membrane proteins in mitochondria.

OKTAY Y., Rainey R., Koehler C. M.
The Enzymes Molecular Machines Involved in Protein Trasnport across Membrane, Dalbey, R. E., Koehler, C. M., and Tamanoi, F. , Editör, Elsevier Inc., ss.367-386, 2007

Metrikler

Yayın

76

Atıf (WoS)

1932

H-İndeks (WoS)

12

Atıf (Scopus)

2040

H-İndeks (Scopus)

12

Atıf (Scholar)

670

H-İndeks(Scholar)

10

Proje

25

Tez Danışmanlığı

12

Açık Erişim

23
BM Sürdürülebilir Kalkınma Amaçları