Nörogenetik Araştırma Grubu

Genome resequencing and comparative analysis of Streptococcus mutans in adults with high and low caries risk

Ucuncu M. Y., Ucuncu M. K., Karacan İ., TOPCUOĞLU E. N.

SCIENTIFIC DATA, cilt.12, sa.1, 2025 (SCI-Expanded, Scopus)

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, cilt.26, sa.1, ss.82, 2025 (SCI-Expanded, Scopus)

Investigation of IFIT3 and KCNS3 Gene Expression Patterns in the Peripheral Blood of Patients with Cryptogenic Epilepsy

Özcan G., Korkmaz N. D., Süsgün S., Yücesan E., Uslu F.

Acta Medica Nicomedia, cilt.8, sa.2, ss.1, 2025 (TRDizin)

Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy

GÖNCÜ B. S., YEŞİL SAYIN G., Aslanger A. D., YÜCESAN E.

Experimed, cilt.15, sa.1, ss.41-48, 2025 (Scopus, TRDizin)

miR-21 and cathepsin B in familial Mediterranean fever: novel findings regarding their impact on disease severity

Durmus S., GELİŞGEN R., Hajiyeva R., Adrovic A., YILDIZ M., YÜCESAN E., et al.

BMJ Paediatrics Open, cilt.9, sa.1, 2025 (SCI-Expanded, Scopus)

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

Chen S., Abou-Khalil B. W., Afawi Z., Ali Q. Z., Amadori E., Anderson A., et al.

Nature neuroscience, 2024 (SCI-Expanded, Scopus)

Relationship Between BDNF and LPS Levels in the Blood of Patients with Different Neurological Diseases: A Small Cohort Study

KORKMAZ N. D., Elibol B., SÜSGÜN S., Toruntay C., Bayrakoglu A., Yuzgulec M., et al.

Experimed, cilt.14, sa.2, ss.92-101, 2024 (Scopus)

Psychedelic therapy in depression and substance use disorders

KORKMAZ N. D., Cikrikcili U., Akan M., YÜCESAN E.

European Journal of Neuroscience, cilt.60, sa.2, ss.4063-4077, 2024 (SCI-Expanded, Scopus)

Carl von Linne: The Development of the Idea of Binomial Nomenclature

YÜCESAN E.

JOURNAL OF MEDICAL BIOGRAPHY, cilt.32, sa.1, ss.51-56, 2024 (AHCI, Scopus)

Potential Roles of MicroRNAs in Neurodegenerative Diseases

Yozlu M., GEZEN AK D., YÜCESAN E.

Experimed, cilt.14, sa.1, 2024 (Scopus)

Functional Characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.

Yucesan E., Goncu B., Ozgul C., Kebapci A., Aslanger A. D., Akyuz E., et al.

The International journal of neuroscience, cilt.134, sa.10, ss.1098-1103, 2024 (SCI-Expanded, Scopus)

Diagnostic Panel of Three Genetic Biomarkers Based on Artificial Neural Network for Patients With Idiopathic Generalized Epilepsy

YABACI TAK A., TAK N., USLU F., YÜCESAN E.

Acta Neurologica Scandinavica, cilt.2024, 2024 (SCI-Expanded, Scopus)

Clinical, Radiological, and Molecular Findings in Cases with TRAPPopathies

Aslanger A. D., Sengenc E., YÜCESAN E., GÖNCÜ B. S., Iscan A., Sayin G. Y.

JOURNAL OF CHILD - COCUK DERGISI, cilt.23, sa.3, ss.1-7, 2023 (ESCI, TRDizin)

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.

Stevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O. M., Afawi Z., et al.

Nature genetics, cilt.55, ss.1471-1482, 2023 (SCI-Expanded, Scopus)

Gene Teams are on the Field: Evaluation of Variants in Gene-Networks Using High Dimensional Modelling.

Tuna S., Gulec C., Yucesan E., Cirakoglu A., Arguden Y.

IEEE/ACM transactions on computational biology and bioinformatics, cilt.20, ss.2959-2969, 2023 (SCI-Expanded, Scopus)

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

Montanucci L., Lewis-Smith D., Collins R. L., Niestroj L., Parthasarathy S., Xian J., et al.

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

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, Scopus)

Altered gut microbiota in patients with idiopathic Parkinson's disease: an age-sex matched case-control study

Yildiz G. B., Kayacan Z. C., Karacan İ., SÜMBÜL B., Elibol B., Gelisin O., et al.

ACTA NEUROLOGICA BELGICA, cilt.123, sa.3, ss.999-1009, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Evaluation of miR-526b-3p, miR-1179, miR-3529-3p, miR-5011-5p as potential diagnostic biomarkers in isolated cervical dystonia.

Gelisin O., Susgun S., Toruntay C., Yabaci A., Baran G., Gursoy A. E. B., et al.

Revue neurologique, cilt.179, sa.6, ss.563-569, 2023 (SCI-Expanded, Scopus)

Investigation of variants causing hot water epilepsy by next generation sequencing approach in Turkish population

Düzenli Ö. F., Salman B., Yücesan E., Şirin İnan N. G., Baykan B., Uğur İşeri S. A., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.31, sa.S1, ss.201, 2023 (SCI-Expanded, Scopus)

Identification of phenotypic and genotypic properties and cold adaptive mechanisms of novel freeze-thaw stress-resistant strain Pseudomonas mandelii from Antarctica

Mumcu H., Cebeci E. T. S., Kilic M. M., Cebeci A., Güneş Develioğlu Y., Karacan İ., et al.

POLAR BIOLOGY, sa.3, ss.169-183, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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

HATIRNAZ NG Ö., ŞAHİN İ., ERBİLGİN Y., ÖZDEMİR Ö., YÜCESAN E., Erturk N., et al.

Frontiers in Public Health, cilt.10, 2023 (SCI-Expanded, SSCI, Scopus)

Frequency and severity of COVID-19 in patients with various rheumatic diseases treated regularly with colchicine or hydroxychloroquine

ÖZTAŞ M., BEKTAŞ M., KARACAN İ., Aliyeva N., DAĞ A., Aghamuradov S., et al.

JOURNAL OF MEDICAL VIROLOGY, cilt.94, sa.7, ss.3431-3437, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

MİYELODİSPLASTİK SENDROM TANISINDA MIR-145 VE MIR-146A’NIN POTANSİYEL BİYOBELİRTEÇ OLARAK DEĞERLENDİRİLMESİ

Süsgün S., Baykara O., Yücesan E., Kuru R. D., Aslaneli Çakmak B., Yabacı Tak A., et al.

Acta Medica Nicomedia, cilt.5, sa.2, ss.61-66, 2022 (TRDizin)

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability

ASLANGER A. D., GÖNCÜ B. S., Duzenli Ö. F., Yucesan E., Sengenc E., YEŞİL SAYIN G.

JOURNAL OF HUMAN GENETICS, cilt.67, sa.5, ss.279-284, 2022 (SCI-Expanded, Scopus)

TIP FAKÜLTESİ ÖĞRENCİLERİNİN METABOLİK SENDROM FARKINDALIK DÜZEYLERİNİN İNCELENMESİ

Bulut M. M., Bozkurt S., YABACI A., YÜCESAN E.

Acta Medica Nicomedia, cilt.5, sa.2, ss.56-60, 2022 (TRDizin)

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

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

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

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey

Haryanyan G., Özdemir Ö., Tutkavul K., Dervent A., Ayta S., Özkara Ç., et al.

JOURNAL OF HUMAN GENETICS, cilt.66, sa.12, ss.1145-1151, 2021 (SCI-Expanded)

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, Scopus) Sürdürülebilir Kalkınma

Gene Hunting Approaches through the Combination of Linkage Analysis with Whole-Exome Sequencing in Mendelian Diseases: From Darwin to the Present Day

SÜSGÜN S., Kasan K., Yucesan E.

PUBLIC HEALTH GENOMICS, cilt.24, sa.5-6, ss.207-217, 2021 (SCI-Expanded, SSCI, Scopus) Sürdürülebilir Kalkınma

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

Yücesan E.

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.7, sa.108, ss.965-982, 2021 (SCI-Expanded)

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, Scopus)

A rare case of an NLRP12-associated autoinflammatory disease

Ayla A. Y., Eren H., Zare J., Calhan S. S., KARACAN İ., Seven M., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.64, sa.4, 2021 (SCI-Expanded, Scopus)

Investigating differential miRNA expression profiling using serum and urine specimens for detecting potential biomarkers for early prostate cancer diagnosis

Hasanoglu S., GÖNCÜ B. S., Yucesan E., ATASOY S., Kayali Y., Ozten Kandas N.

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.51, sa.4, ss.1764-1774, 2021 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

Bağlantı ve Tüm Ekzom Dizileme Analizlerinin Birlikte Değerlendirilmesiyle CIC Geninin İzole Distoni Adayı Olarak Belirlenmesi

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

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

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Aslanger A. D., Demiral E., Sönmez Şahin Ş., Güler S., Göncü B. S., Yücesan E., et al.

NEUROPEDIATRICS, cilt.51, sa.6, ss.430-434, 2020 (SCI-Expanded)

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature

Aslanger A. D., Demiral E., SÖNMEZ ŞAHİN Ş., Guler S., Goncu B., YÜCESAN E., et al.

NEUROPEDIATRICS, cilt.51, sa.6, ss.430-434, 2020 (SCI-Expanded, Scopus)

Copy-number variations in adult patients with chronic immune thrombocytopenia

Yucesan E., Hatirnaz N., Yalniz F., Yilmaz H., Salihoglu A., Sudutan T., et al.

EXPERT REVIEW OF HEMATOLOGY, cilt.13, sa.11, ss.1277-1287, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Oral microbiota and dental caries data from monozygotic and dizygotic twin children

Kasimoglu Y., Koruyucu M., Birant S., Karacan İ., Topcuoglu N., Tuna E. B., et al.

SCIENTIFIC DATA, cilt.7, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey

Karacan İ., Akgun T. K., Agaoglu N. B., Irvem A., Alkurt G., Yildiz J., et al.

NORTHERN CLINICS OF ISTANBUL, cilt.7, sa.3, ss.203-209, 2020 (ESCI, TRDizin) Sürdürülebilir Kalkınma

SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME

Ornek Erguzeloglu C., KARA B., KARACAN İ., ÖZDEMİR Ö., Kesim Y., BEBEK N., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, sa.3, ss.177-183, 2020 (ESCI, TRDizin) Sürdürülebilir Kalkınma

Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

Alm E., Broberg E. K., Connor T., Hodcroft E. B., Komissarov A. B., Maurer-Stroh S., et al.

EUROSURVEILLANCE, cilt.25, sa.32, ss.7-14, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Polygenic burden in focal and generalized epilepsies

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

Brain, cilt.142, sa.11, ss.3473-3481, 2019 (SCI-Expanded, Scopus)

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, cilt.105, sa.2, ss.267-282, 2019 (SCI-Expanded, Scopus)

A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

KARACAN İ., Kucukkaya R. D., Karakus F. N., SOLAKOĞLU S., Tolun A., Hancer V. S., et al.

TURKISH JOURNAL OF HEMATOLOGY, cilt.36, sa.1, ss.29-36, 2019 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Uğur İşeri S. A., Yucesan E., Tuncer Kılınç 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, Scopus)

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study

Karacan İ., Balamir A., Ugurlu S., Aydin A. K., Everest E., Zor S., et al.

RHEUMATOLOGY INTERNATIONAL, sa.5, ss.911-919, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Oral microbial dysbiosis in patients with Kostmann syndrome

TOPCUOĞLU E. N., PINAR ERDEM A., Karacan İ., Kulekci G.

JOURNAL OF MEDICAL MICROBIOLOGY, cilt.68, sa.4, ss.609-615, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Detection of the unknown components of the oral microflora of teeth with periapical radiolucencies in a Turkish population using next-generation sequencing techniques

İRİBOZ E., Ozturk B. A., Kolukirik M., KARACAN İ., SAZAK ÖVEÇOĞLU H.

INTERNATIONAL ENDODONTIC JOURNAL, cilt.51, sa.12, ss.1349-1357, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF

Karacan İ., Ugurlu S., Tolun A., Turanli E. T., Ozdogan H.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, sa.6, 2017 (SCI-Expanded, Scopus) 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 Kılınç F. N., Özdemir Ö., Bebek N., et al.

EPILEPSY RESEARCH, cilt.120, ss.73-78, 2016 (SCI-Expanded, Scopus)

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Steffens M., Leu C., Ruppert A., Zara F., Striano P., Robbiano A., et al.

Human Molecular Genetics, cilt.21, sa.24, ss.5359-5372, 2012 (SCI-Expanded, Scopus)

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Leu C., de Kovel C., Zara F., Striano S., Pezzella M., Robbiano A., et al.

Epilepsia, cilt.53, sa.2, ss.308-318, 2012 (SCI-Expanded, Scopus)

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