Publications & Works

Publication Network
Journal articles indexed in SCI, SSCI, and AHCI

GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights

Calikusu F. Z., Oğuz Akarsu E., Özemri Sağ Ş., Temel Ş. G., Karlı H. N.
ACTA NEUROLOGICA BELGICA , vol.1, no.1, pp.1-6, 2025 (SCI-Expanded)

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Al Qureshah F., Le Pen J., de Weerd N. A., Moncada-Velez M., Materna M., Lin D. C., et al.
The Journal of experimental medicine , vol.222, no.2, 2025 (SCI-Expanded) identifier

Use of a Kiosk-Model Self-Triage System for COVID-19 Triage

Görek Dilektaşlı A., Durak V. A., Korkmaz E., Kiras G., Şen A., Bülbül Başkan E., et al.
RISK MANAGEMENT AND HEALTHCARE POLICY , no.18, pp.579-582, 2025 (SCI-Expanded)

Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics.

Abuelrub A., Erol I., Nalbant Bingol N., Ozemri Sag S., Temel S. G., Durdağı S.
ACS chemical neuroscience , no.1, 2025 (SCI-Expanded) identifier identifier

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Bellos E., Santillo D., Vantourout P., Jackson H. R., Duret A., Hearn H., et al.
The Journal of experimental medicine , vol.221, no.12, 2024 (SCI-Expanded) identifier

Investigation of infectious droplet dispersion in a hospital examination room cooled by split-type air conditioner

Yüce B. E., Kalay O. C., KARPAT F., ALEMDAR A., TEMEL Ş. G., Dilektaşlı A. G., et al.
Journal of Environmental Health Science and Engineering , vol.22, no.2, pp.471-482, 2024 (SCI-Expanded) identifier identifier

Identifying Hub Genes and Metabolic Pathways in Collagen VI-Related Dystrophies: A Roadmap to Therapeutic Intervention

Ceyhan A. B., Kaynar A., Altay O., Zang C., Temel Ş. G., Türkez H., et al.
BIOMOLECULES , no.14, pp.1-20, 2024 (SCI-Expanded)

Investigation of the Release of Growth Factors from Apheresis Platelet Concentrate (APC) Loaded Three Layered Composite Nanofiber Surface

Yılmaz H., Aras C., Karaçay M., Altuntuğ Cesur M. İ., Karaca E., Temel Ş. G., et al.
Tekstil ve Konfeksiyon , vol.34, no.3, pp.244-252, 2024 (SCI-Expanded) identifier identifier

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Chan Y., Lundberg V., Le Pen J., Yuan J., Lee D., Pinci F., et al.
The Journal of experimental medicine , vol.221, no.9, 2024 (SCI-Expanded) identifier

Investigation of the Release of Growth Factors from Apheresis Platelet Concentrate (APC) Loaded Three Layered Composite Nanofiber Surface

Yılmaz H., Aras Gül C., Karaçay M., Altuntuğ Cesur M. İ., Karaca E., Temel Ş. G., et al.
TEKSTIL VE KONFEKSIYON , vol.34, no.3, pp.244-252, 2024 (SCI-Expanded) Creative Commons License

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.

Ozcelik F., Dundar M. S., Yildirim A. B., Henehan G., Vicente O., Sánchez-Alcázar J. A., et al.
Functional & integrative genomics , vol.24, no.4, pp.138, 2024 (SCI-Expanded) identifier

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow

Kim A. H., Sakin I., Vivano S., Tuncel G., Aguilera S. M., Goles G., et al.
LIFE SCIENCE ALLIANCE , vol.7, no.10, pp.1-10, 2024 (SCI-Expanded)

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök V., Leblebisatan G., Gürlek Gökçebay D., Güler S., Doğan M. E., Tuğ Bozdoğan S., et al.
British journal of haematology , vol.205, no.1, pp.236-242, 2024 (SCI-Expanded) Creative Commons License identifier identifier

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta

Aliyeva L., Denkboy Öngen Y., Eren E., Sarısözen M. B., Alemdar A., Temel Ş. G., et al.
JOURNAL OF MOLECULAR DIAGNOSTICS , vol.26, no.10, pp.1-20, 2024 (SCI-Expanded)

Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region

Badee A., Dündar M. S., Örnek Ergüzeloğlu C., Ergoren M. C., Alemdar A., Özemri Sağ Ş., et al.
BIOMEDICINES , vol.12, no.5, pp.1-11, 2024 (SCI-Expanded) Creative Commons License

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

Ma M., Ganapathi M., Zheng Y., Tan K., Kanca O., Bove K. E., et al.
Genetics in medicine : official journal of the American College of Medical Genetics , no.-, pp.101125, 2024 (SCI-Expanded) identifier

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.

Bastard P., Gervais A., Taniguchi M., Saare L., Särekannu K., Le Voyer T., et al.
The Journal of experimental medicine , vol.221, no.2, 2024 (SCI-Expanded) identifier identifier identifier

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Le Voyer T., Parent A. V., Liu X., Cederholm A., Gervais A., Rosain J., et al.
Nature , vol.623, no.7988, pp.803-813, 2023 (SCI-Expanded) Sustainable Development identifier identifier identifier

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy

Türkgenc B., Baydar Ç. L., Akçay A., Deniz I., Ergoren M. Ç., Özemri Sağ Ş., et al.
APPLIED IMMUNOHISTOCHEMISTRY AND MOLECULAR MORPHOLOGY , vol.11, pp.1-8, 2023 (SCI-Expanded)

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

Denkboy Ongen Y., Ozemri Sag S., Temel Ş. G., Eren E.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.15, no.3, pp.285-292, 2023 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier identifier identifier

A new line method; A direct test in spinal muscular atrophy screening for DBS

Kubar A., Temel Ş. G., Ergören M. C., Hatırnaz Ng Ö., Özemri Sağ Ş., Alanay Y., et al.
MOLECULAR GENETICS AND GENOMICS , no.6, pp.1-8, 2023 (SCI-Expanded)

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

Bucciol G., Moens L., Ogishi M., Rinchai D., Matuozzo D., Momenilandi M., et al.
JOURNAL OF CLINICAL INVESTIGATION , vol.133, no.12, 2023 (SCI-Expanded) identifier identifier identifier

PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely

Ogur C., Kahraman S., Grif D. K., Yapan C. C., Tufekci M. A., Cetinkaya M., et al.
REPRODUCTIVE BIOMEDICINE ONLINE , vol.46, no.4, pp.713-727, 2023 (SCI-Expanded) identifier identifier identifier

Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia

Su H. C., Jing H., Zhang ., Human Genetic Effort M. O. T. C., Temel Ş. G., Casanova J.
ANNUAL REVIEW OF IMMUNOLOGY , no.41, pp.561-585, 2023 (SCI-Expanded)

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Kiraz A., Sezer O., Alemdar A., Canbek S., Duman N., Bisgin A., et al.
Journal of medical virology , vol.95, 2023 (SCI-Expanded) Sustainable Development identifier identifier identifier

Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Buccio G., Abel L., Al-Muhsen S., Aiuti A., Al-Mulla F., Andreakos E., et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY: IN PRACTICE , vol.151, no.4, pp.832-840, 2023 (SCI-Expanded) Sustainable Development identifier identifier identifier

Autoantibodies against type I IFNs in patients with critical influenza pneumonia.

Zhang Q., Pizzorno A., Miorin L., Bastard P., Gervais A., Le Voyer T., et al.
The Journal of experimental medicine , vol.219, no.11, 2022 (SCI-Expanded) identifier identifier identifier

"Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole exome sequencing data in the Turkish Population.

Duman N., Tuncel G., Bisgin A., Bozdogan S. T., Sag S. O., Gul S., et al.
Journal of medical virology , vol.94, no.11, pp.5225-5243, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family.

Ergoren M. C., Akcan N., Manara E., Paolacci S., Fahrioğlu U., Betmezoglu M., et al.
Applied immunohistochemistry & molecular morphology : AIMM , vol.30, no.9, pp.635-639, 2022 (SCI-Expanded) identifier identifier identifier

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis.

Bolze A., Mogensen T. H., Zhang S., Abel L., Andreakos E., Arkin L. M., et al.
Journal of clinical immunology , vol.42, pp.1354-1359, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

The expression profile of WNT/beta-catanin signalling genes in human oocytes obtained from polycystic ovarian syndrome (PCOS) patients

Ismail A. B., Naji M. '. S., Tuncel G., Ozbakir B., TEMEL Ş. G., Tulay P., et al.
ZYGOTE , vol.30, no.4, pp.536-542, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.

Cekic Ş., Huriyet H., Hortoglu M., Kasap N., Ozen A., Karakoc-Aydiner E., et al.
Clinical and experimental immunology , vol.209, no.1, pp.83-89, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A., Sag S. O., Dogan M. E., Yildirim M. S., Gumus A. A., Akkus N., et al.
Breast (Edinburgh, Scotland) , vol.65, no.-, pp.15-22, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M., Fahrioglu U., Yildiz S. H., Bakir-Gungor B., Temel Ş. G., Akin H., et al.
Functional & integrative genomics , vol.22, no.3, pp.291-315, 2022 (SCI-Expanded) identifier identifier identifier

Characterizing a de novo TRIO gene variant as a likely cause of autosomal dominant Intellectual developmental disorder type 63 with macrocephaly

Tekguc D. C., Tuncel G., Karanlik S., Koreken N., TEMEL Ş. G., Ergoren M. C.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.30, no.SUPPL 1, pp.255, 2022 (SCI-Expanded) identifier

Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly

TEMEL Ş. G., ÖZEMRİ SAĞ Ş., EREN E., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.30, no.SUPPL 1, pp.352, 2022 (SCI-Expanded) identifier

Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility

Gerlevik U., Ergoren M. C., SEZERMAN O. U., TEMEL Ş. G.
PEERJ , vol.10, 2022 (SCI-Expanded) identifier identifier identifier

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Senturk G., Ng Y. Y., Eltan S. B., Baser D., Ogulur I., ALTINDİREK D., et al.
SCANDINAVIAN JOURNAL OF IMMUNOLOGY , vol.95, no.3, 2022 (SCI-Expanded) identifier identifier identifier

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.

Agaoglu N. B., Unal B., Akgun Dogan O., Kanev M. O., Zolfagharian P., Ozemri Sag S., et al.
European journal of human genetics : EJHG , vol.30, pp.378-383, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

Birt-Hogg-Dube Syndrome: Diagnostic Journey of Three Cases from Skin to Gene

Hasal E., Baskan E. B., Gul S., Dilektasli A. G., Sag S. O., Adird Ş., et al.
ANNALS OF DERMATOLOGY , vol.34, no.1, pp.66-71, 2022 (SCI-Expanded) identifier identifier identifier

Nanobubble Ozone Stored in Hyaluronic Acid Decorated Liposomes: Antibacterial, Anti-SARS-CoV-2 Effect and Biocompatibility Tests

Sabanci A. U., Alkan P. E., Mujde C., Polat H. U., Erguzeloglu C. O., BİŞGİN A., et al.
INTERNATIONAL JOURNAL OF NANOMEDICINE , vol.17, pp.351-379, 2022 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier identifier

Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population.

Temel Ş. G., Yazici S., Yilmaz İ., Tosun Ö., Cerkez Ergoren M., Bulbul Baskan E., et al.
Acta dermatovenerologica Croatica : ADC , vol.29, no.3, pp.121-126, 2021 (SCI-Expanded) identifier identifier

BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models

Senturk N., Tuncel G., Dogan B., Aliyeva L., Dundar M. S., Ozemri Sag S., et al.
GENES , vol.12, no.11, 2021 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier identifier

Associations of the ITGB3 gene rs5918T > C and the APOA1 gene rs1799837C > T markers with serum lipid metabolism in coronary artery disease patients

Conkbayir C., Ergoren M., Cobanogullari H., Balcioglu O., Abras I., Eminsel T., et al.
EUROPEAN HEART JOURNAL , vol.42, pp.3192, 2021 (SCI-Expanded) identifier

Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia.

Tuncel G., Akcan N., Gul S., Sag S. O., Bundak R., Mocan G., et al.
Applied immunohistochemistry & molecular morphology : AIMM , vol.29, pp.546-550, 2021 (SCI-Expanded) identifier identifier identifier

Mitochondrial estrogen receptors alter mitochondrial priming and response to endocrine therapy in breast cancer cells.

Karakas B., Aka Y., Giray A., Temel Ş. G., Acikbas U., Basaga H., et al.
Cell death discovery , vol.7, pp.189, 2021 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier identifier

Natural selection at work? Vitamin D deficiency rates and rising health problems in young Turkish Cypriot professionals.

Kandemiş E., Tuncel G., Fahrioğlu U., Temel Ş. G., Mocan G., Ergören M. Ç.
Central European journal of public health , vol.29, pp.130-133, 2021 (SCI-Expanded) Sustainable Development identifier identifier identifier

MUTATION STATUS AND IMMUNOHISTOCHEMICAL CORRELATION OF EGFR MUTATIONS IN GASTROINTESTINAL STROMAL TUMORS

Ozkayalar H., Ergoren M. C., Tuncel G., Kurt S., Cevik E., Sag O. S., et al.
BALKAN JOURNAL OF MEDICAL GENETICS , vol.24, no.1, pp.67-71, 2021 (SCI-Expanded) Sustainable Development identifier identifier identifier

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Tuncel G., Kaymakamzade B., Engindereli Y., TEMEL Ş. G., Ergoren M. C.
GENES , vol.12, no.6, 2021 (SCI-Expanded) identifier identifier identifier

Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.

DEMİR S., YALÇINTEPE S., ATLI E. İ., Sanri A., Yildirim R., TÜTÜNCÜLER F., et al.
Genetic testing and molecular biomarkers , vol.25, no.1, pp.59-67, 2021 (SCI-Expanded) identifier identifier identifier

The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease

YALÇINTEPE S., GÜRKAN H., DEMİR S., ÖZEMRİ SAĞ Ş., ATLI E. İ., ATLI E., et al.
Turkish Neurosurgery , vol.31, pp.888-895, 2021 (SCI-Expanded) identifier identifier identifier

Evaluation of bioaccessibility and functional properties of kombucha beverages fortified with different medicinal plant extracts

Tamer C. E., Temel Ş. G., Suna S., Karabacak A., Ozcan T., Ersan L. Y., et al.
TURKISH JOURNAL OF AGRICULTURE AND FORESTRY , vol.45, no.1, pp.13-32, 2021 (SCI-Expanded) identifier identifier

CC2D1A AS A NOVEL CILIOPATHY GENE

Sakin I., Tuncel G., Sag S. O., KAPLAN O. İ., Khokha M. K., Ergoren M. C., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, pp.454, 2020 (SCI-Expanded) identifier

Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertility

Friedrich C., TEMEL Ş. G., Nagirnaja L., Oud M. S., Lopes A. M., van der Heijden G. W., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, pp.1002-1003, 2020 (SCI-Expanded) identifier

Identification of unsolved rare genetic cases of North Cyprus

Ergoren M. C., Manara E., Paolacci S., Tuncel G., TEMEL Ş. G., Mocan G., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, pp.944, 2020 (SCI-Expanded) identifier

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

TEMEL Ş. G., Ergoren M. C., Manara E., Paolacci S., Tuncel G., Gul S., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, no.12, pp.1675-1680, 2020 (SCI-Expanded) identifier identifier identifier

Functional coding/non-coding variants in EGFR, ROS1 and ALK genes and their role in liquid biopsy as a personalized therapy.

Ergoren M., Cobanogulları H., Temel Ş. G., Mocan G.
Critical reviews in oncology/hematology , vol.156, pp.103113, 2020 (SCI-Expanded) Sustainable Development identifier identifier identifier

Diagnostic Efficiency of Clinical Exome Solution Panel in patients with Hearing loss/Hereditary Deafness by using Next Generation Sequencing

Temel Ş. G., Alemdar A., Yılmaz M., Aliyeva L., Sag S. O.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.28, pp.190-191, 2020 (SCI-Expanded) identifier

Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

Pirim D., Kaya N., Yıldırım E., Sag S., Temel Ş. G.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , vol.162, pp.1166-1177, 2020 (SCI-Expanded) Sustainable Development identifier identifier identifier

A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story

Ergoren M. C., Tuncel G., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI , vol.45, no.5, pp.613-616, 2020 (SCI-Expanded) identifier identifier

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

Wyrwoll M. J., TEMEL Ş. G., Nagirnaja L., Oud M. S., Lopes A. M., van der Heijden G. W., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.107, no.2, pp.342-351, 2020 (SCI-Expanded) identifier identifier identifier

Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population

Kandemis E., Tuncel G., Asut O., TEMEL Ş. G., Ergoren M. C.
CURRENT DRUG METABOLISM , vol.21, no.6, pp.466-470, 2020 (SCI-Expanded) identifier identifier identifier

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Fellmann F., van El C. G., Charron P., Michaud K., Howard H. C., Boers S. N., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.27, no.12, pp.1763-1773, 2019 (SCI-Expanded) Sustainable Development identifier identifier identifier

A novel homozygous nonsense mutation in <i>CAST</i> associated with PLACK syndrome

TEMEL Ş. G., Karakas B., Seker Ü., Turkgenc B., Zorlu O., Saricaoglu H., et al.
CELL AND TISSUE RESEARCH , no.2, pp.267-277, 2019 (SCI-Expanded) Sustainable Development identifier identifier identifier

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Ergoren M. C., Turkgenc B., Terali K., Rodoplu O., Verstraeten A., Van Laer L., et al.
CONNECTIVE TISSUE RESEARCH , vol.60, no.2, pp.146-154, 2019 (SCI-Expanded) identifier identifier identifier

Investigation of KCNQI polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures

Tulay P., Temel Ş. G., Ergoren M. C.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , vol.124, pp.537-540, 2019 (SCI-Expanded) Sustainable Development identifier identifier identifier

The use of ACE INDEL polymorphism as a biomarker of coronary artery Chock disease (CAD) in humans with Mediterranean-style diet

TEMEL Ş. G., Ergoren M. C., Yilmaz I., ORAL H. B.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , vol.123, pp.576-580, 2019 (SCI-Expanded) identifier identifier identifier

The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: A pre-diagnostic biomarker for coronary artery disease

TEMEL Ş. G., Ergoren M. C.
ANATOLIAN JOURNAL OF CARDIOLOGY , vol.21, no.1, pp.31-38, 2019 (SCI-Expanded) identifier identifier identifier

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16

Turkgenc B., Sanlidag B., Eker A., Giray A., Kutuk O., Yakicier C., et al.
HUMAN MUTATION , vol.39, no.10, pp.1344-1348, 2018 (SCI-Expanded) identifier identifier identifier

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A., Albuisson J., Boel A., Al-Essa M., Al-Manea W., Bonnet D., et al.
Genetics in medicine : official journal of the American College of Medical Genetics , vol.20, no.10, pp.1236-1245, 2018 (SCI-Expanded) identifier identifier identifier

Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome

Sah H., Sanlidag B., Manara E., Terali K., Paolacci S., Mocan G., et al.
FEBS OPEN BIO , vol.8, pp.143, 2018 (SCI-Expanded) identifier

Characterization and in silico modelling of bi-allelic POLR3A mutations as a cause of Wiedemann-Rautenstrauch syndrome

Betmezoglu M., Terali K., Manara E., Mocan G., Temel Ş. G., Bertelli M., et al.
FEBS OPEN BIO , vol.8, pp.143-144, 2018 (SCI-Expanded) identifier

Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports

Uysal F., Turkgenc B., Toksoy G., BOSTAN Ö. M., Evke E., Uyguner O., et al.
BMC MEDICAL GENETICS , vol.18, 2017 (SCI-Expanded) identifier identifier identifier

Biphasic ROS production, p53 and BIK dictate the mode of cell death in response to DNA damage in colon cancer cells

Kutuk O., Aytan N., Karakas B., Kurt A. G., Acikbas U., TEMEL Ş. G., et al.
PLOS ONE , vol.12, no.8, 2017 (SCI-Expanded) Sustainable Development identifier identifier identifier

A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections

Akcan N., SERAKINCI N., Turkgenc B., Bundak R., Bahceciler N., Temel Ş. G.
FRONTIERS IN ENDOCRINOLOGY , vol.8, 2017 (SCI-Expanded) identifier identifier identifier

Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes"

Ergoren M. C., Temel S. G.
ANATOLIAN JOURNAL OF CARDIOLOGY , vol.17, no.1, pp.76-77, 2017 (SCI-Expanded) identifier identifier identifier

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

McMillin M. J., Beck A. E., Chong J. X., Shively K. M., Buckingham K. J., Gildersleeve H. I. S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.94, no.5, pp.734-744, 2014 (SCI-Expanded) identifier identifier identifier

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

TEMEL Ş. G., Cangul H.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.26, pp.191, 2013 (SCI-Expanded) identifier identifier identifier

Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.

Bostan Ö. M., TEMEL Ş. G., Cangul H., Archer C. N. S., ÇİL E.
Pediatric cardiology , vol.34, no.8, pp.2063-7, 2013 (SCI-Expanded) identifier identifier identifier

Turkish perspective of Jervell and Lange-Nielsen syndrome.

TEMEL Ş. G., Bostan Ö. M., Cangul H., ÇİL E.
Annals of Indian Academy of Neurology , vol.16, no.1, pp.129-30, 2013 (SCI-Expanded) identifier identifier identifier

Aven blocks DNA damage-induced apoptosis by stabilising Bcl-xL

KÜTÜK Ö., TEMEL Ş. G., TOLUNAY Ş., Basaga H.
EUROPEAN JOURNAL OF CANCER , vol.46, no.13, pp.2494-2505, 2010 (SCI-Expanded) Sustainable Development identifier identifier identifier

Effects of citicoline used alone and in combination with mild hypothermia on apoptosis induced by focal cerebral ischemia in rats.

Sahin S., Alkan T., Temel Ş. G., Tureyen K., Tolunay S., Korfali E.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia , vol.17, no.2, pp.227-31, 2010 (SCI-Expanded) identifier identifier identifier

Cyclooxygenase-2 expression in astrocytes and microglia in human oligodendroglioma and astrocytoma

Temel Ş. G., Kahveci Z.
JOURNAL OF MOLECULAR HISTOLOGY , vol.40, pp.369-377, 2009 (SCI-Expanded) identifier identifier identifier

Immunohistochemical detection of p53 protein in basal cell skin cancer after microwave-assisted antigen retrieval

Evke E., Minbay F. Z., Temel Ş. G., Kahveci Z.
JOURNAL OF MOLECULAR HISTOLOGY , vol.40, no.1, pp.13-21, 2009 (SCI-Expanded) Sustainable Development identifier identifier identifier

Preclinical safety evaluation of intravitreal injection of full-length humanized vascular endothelial growth factor antibody in rabbit eyes.

Inan U. U., Avci B., Kusbeci T., Kaderli B., Avci R., Temel Ş. G.
Investigative ophthalmology & visual science , vol.48, no.4, pp.1773-81, 2007 (SCI-Expanded) identifier identifier identifier

Microwave-assisted antigen retrieval and incubation with cox-2 antibody of archival paraffin-embedded human oligodendroglioma and astrocytomas.

Temel Ş. G., Minbay F. Z., Kahveci Z., Jennes L.
Journal of neuroscience methods , vol.156, pp.154-60, 2006 (SCI-Expanded) identifier identifier identifier

A new material for prevention of epidural fibrosis after laminectomy: oxidized regenerated cellulose (interceed), an absorbable barrier.

Temel Ş. G., Ozturk C., Temiz A., Ersozlu S., Aydinli U.
Journal of spinal disorders & techniques , vol.19, no.4, pp.270-5, 2006 (SCI-Expanded) identifier identifier identifier

A simple and rapid microwave-assisted hematoxylin and eosin staining method using 1,1,1 trichloroethane as a dewaxing and a clearing agent.

Temel Ş. G., Noyan S., Cavusoglu I., Kahveci Z.
Biotechnic & histochemistry : official publication of the Biological Stain Commission , vol.80, pp.123-32, 2005 (SCI-Expanded) identifier identifier identifier

Expression of estrogen receptor-alpha and cFos in norepinephrine and epinephrine neurons of young and middle-aged rats during the steroid-induced luteinizing hormone surge

TEMEL Ş. G., Lin W., Lakhlani S., Jennes L.
ENDOCRINOLOGY , vol.143, no.10, pp.3974-3983, 2002 (SCI-Expanded) identifier identifier identifier

Rapid polymerisation with microwave irradiation for transmission electron microscopy.

Cavusoglu I., Minbay F. Z., Temel Ş. G., Noyan S.
European journal of morphology , vol.39, no.5, pp.313-7, 2001 (SCI-Expanded) identifier identifier identifier
Articles Published in Other Journals

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.

Marchal A., Cirulli E. T., Neveux I., Bellos E., Thwaites R. S., Schiabor Barrett K. M., et al.
HGG advances , vol.5, no.3, pp.100300, 2024 (ESCI) identifier identifier

Footprints of Stress in Vitiligo: Association of the 5-HTR2C rs6318 Variant

Yılmaz I., Yazici S., Ergören M. Ç., Bülbül Başkan E., Oral H. B., Aydoğan K., et al.
The Eurobiotech Journal , vol.2, pp.65-73, 2024 (ESCI)

Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants

Cobat A., Zhang Q., Abel L., Al-Muhsen S., Aiuti A., Al-Mulla F., et al.
ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE , vol.6, pp.465-486, 2023 (ESCI) identifier identifier identifier

Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis

Tuncel G., Sanlidag B., Baris T., Dirik E., Ergoren M. Ç., Temel Ş. G.
GLOBAL MEDICAL GENETICS , vol.10, no.3, pp.240-246, 2023 (ESCI)

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I., Ozemri Sag S., Duman N., Ozdemir S. Y., Ergoren M. C., Dalci K., et al.
European journal of breast health , vol.19, no.3, pp.235-252, 2023 (ESCI) identifier identifier identifier identifier

A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets

DEMİRBAŞ Ö., EREN E., DENKBOY ÖNGEN Y., ÖZEMRİ SAĞ Ş., GÜRKAN H., TEMEL Ş. G.
GUNCEL PEDIATRI , vol.21, no.1, pp.98-101, 2023 (ESCI) identifier identifier

Association of the 5HTR2C gene Ser23 variation with childhood allergic asthma

TEMEL Ş. G., Ergoren M. C., Yilmaz I., Yuruker O., Cobanogullari H., Tosun O., et al.
EUROBIOTECH JOURNAL , vol.6, no.3, pp.126-132, 2022 (ESCI) identifier identifier

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Temel Ş. G.
medrxiv , vol.1, no.1, pp.1-15, 2022 (Non Peer-Reviewed Journal)

Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas

Köse H., Çekiç Ş., Temel Ş. G., Özemri Sağ Ş., Kılıç Gültekin S. Ş.
Türkiye Klinikleri Journal of Case Reports , vol.30, no.2, pp.136-141, 2022 (Peer-Reviewed Journal) identifier

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia

Ergoren M. C., EREN E., Manara E., Paolacci S., Tulay P., ÖZEMRİ SAĞ Ş., et al.
GLOBAL MEDICAL GENETICS , vol.8, no.3, pp.100-103, 2021 (ESCI) identifier identifier

The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus

Ergoren M. C., TEMEL Ş. G., Mocan G., DÜNDAR M.
GLOBAL MEDICAL GENETICS , vol.8, no.2, pp.69-71, 2021 (ESCI) Sustainable Development identifier identifier

Ailesel Akdeniz Ateşi Hastalarında MEFV Gen Mutasyonunun Sıklığı ve Dağılımı: Tek Merkez Deneyimi

ÖZEMRİ SAĞ Ş., ALEMDAR A., Aliyeva L., KAYA N., TEMEL Ş. G.
SDÜ Tıp Fakültesi Dergisi , vol.28, no.1, pp.85-91, 2021 (Peer-Reviewed Journal) Sustainable Development identifier

A Rare Cyctic Lung Disease: Birt-Hogg-Dubé Syndrome

Ömer D., Görek Dilektaşlı A., Bülbül Başkan E., Temel Ş. G., Uzaslan A. E., Özemri Sağ Ş.
Turkiye Klinikleri Archives of Lung , vol.20, 2021 (Peer-Reviewed Journal)

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

TULAY P., ERGÖREN M. Ç., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
Global Medical Genetics , 2021 (ESCI)

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

Tulay P., Ergoren M. C., Alkaya A., Yayci E., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
GLOBAL MEDICAL GENETICS , vol.7, no.4, pp.128-132, 2020 (ESCI) identifier identifier

THE EXPRESSION OF VANILLOID RECEPTORSUBTYPE-1 (VR1) IN GONADOTROPIN-RELEASINGHORMONE IN RAT BRAIN

TEMEL Ş. G.
SDU Tıp Fakültesi Dergisi , vol.28, no.2, pp.1-6, 2020 (Peer-Reviewed Journal)

Identification of a Novel Mitochondrial DNA Sequence Variation within the Human Mitochondrial DNA Control Region in a Population of Aegean Population

KÖSELER A., TEMEL Ş. G., Ergoren M. C.
ERCIYES MEDICAL JOURNAL , vol.41, no.2, pp.158-163, 2019 (ESCI) identifier

Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus

Temel Ş. G., Gulten T., Yakut T., Saglam H., Kilic N., Bausch E., et al.
Sexual Development , vol.1, no.1, pp.24-34, 2006 (Scopus) identifier identifier identifier

Mikrodalga ışınımının sıçan karaciğer ve böbrek dokuklarının preparasyonunda kullanımı

TEMEL Ş. G., ERSOY S., KAHVECİ Z.
Bursa Devlet Hastanesi Bülteni , vol.19, no.2, pp.83-91, 2004 (Peer-Reviewed Journal)

Mikrodalga ışınımının sıçan karaciğer ve böbrek dokularının preparasyonunda kullanımı.

TEMEL Ş. G., ERSOY S., KAHVECİ Z.
Bursa Devlet Hastanesi Bülteni , vol.19, no.2, pp.83-91, 2004 (Peer-Reviewed Journal)
Papers Presented at Peer-Reviewed Scientific Conferences

The Path to the Product with a Two-Way Concept from Bench to Bedside and Vice Versa

TEMEL Ş. G.
European Biotechnology Congress 2024, İstanbul, Turkey, 2 - 05 October 2024

Screening of Severe Combined Immunodeficiency Disease (SCID) in newborn Guthrie Cards by Determining the TREC copy numbers

Önder G., BEKEN S., KUBAR A., Doğan Cosar O., Korkmaz A., Sonmezalp C. Z., et al.
Recent Advances in Primary Immunodysregulation Disorders (RAPID) Meeting – May 2024, Qatar, 9 - 10 May 2024

Detection of actionable variants using liquid biopsy samples for therapeutic approach

DOĞAN B., KAYA N., NALBANT N., ALEMDAR A., ALİYEVA L., ÖZEMRİ SAĞ Ş., et al.
American Society of Human Genetics, Washington, Kiribati, 01 November 2023

Melanom Hastalarında BRAF V600 Mutasyon Prevalansı ve BRAF Mutasyonu ile Klinikopatolojik Özellikler Arasındaki İlişki

ÖZTÜRK F., ELMAS S., BÜLBÜL BAŞKAN E., AYDOĞAN K., YAZİCİ S., BALABAN ADIM Ş., et al.
31. Ulusal Dermatoloji Kongresi, Antalya, Turkey, 18 - 22 October 2023

CC2D1A AS A NOVEL AUTISM AND CILIOPATHY GENE: IS AUTISM A CILIOPATHY DISORDER?

TEMEL Ş. G.
EUROPEAN BIOTECHNOLOGY CONGRESS 2023, Slovenia, 4 - 06 October 2023

Dermatolojik hastalıkların genetik tanısında kullanılan yöntemler

TEMEL Ş. G.
Güz Toplantıları: Dermatolojik tedavide yeni dönem, Turkey, 14 - 17 September 2023

Evaluation of Immunotherapy Treatment Approaches in Organotypic Models

Akgün O., Yıldız Y., Ertürk E., Yöyen Ermiş D., Dombaz F., Oral H. B., et al.
26. Ulusal Elektron Mikroskopi Kongresi (EMK26), Eskişehir, Turkey, 20 - 23 September 2023, pp.196

SMA genetiği ve genetik danışmanlık

TEMEL Ş. G.
8. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Turkey, 21 - 23 September 2023

Prenatal and preimplantation genetic diagnosis: challenges, current knowledge and future directions.

TEMEL Ş. G.
The First International Congress of Uzbekistan Association of Reproductive Medicine, Tashkent, Uzbekistan, 28 - 29 April 2023

Genetic Aspects of Male Infertility

TEMEL Ş. G.
The First International Congress of Uzbekistan Association of Reproductive Medicine, Tashkent, Uzbekistan, 28 April - 29 March 2023

MICROWAVE ASSISTED IRRADIATION IN TISSUE PREPARATION: FROM FIXATION TO STAINING

Temel Ş. G.
11. ANADOLU ULUSLARARASI UYGULAMALI BİLİMLER KONGRESİ, Diyarbakır, Turkey, 29 December 2022, pp.1-13

A new neurodevelopmental disorder with microcephaly and neural tube defect: Loss of Nars1leads to microcephaly and neural tube defect

TEMEL Ş. G., ERGÖREN M. Ç., EREN E., ÖZEMRİ SAĞ Ş., ÇELİK FUSS A., GÜL Ş., et al.
ASHG 2022, United States Of America, 25 - 29 October 2022

Next Generation Solutions in Diagnosis of Ciliopathy: From Functional Genomics to Artificial Intelligence-Based Approaches

TEMEL Ş. G.
EUROPEAN BIOTECHNOLOGY CONGRESS 2022, 05 October 2022

Sequencing and Commercial Intelligent Ratio based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy

TUNCEL DEREBOYLU G., Bostancı A., ŞANLIDAĞ B., DİRİK E., TEMEL Ş. G., ERGÖREN M. Ç.
European Society of Human Genetics Congress 2022, 11 - 14 June 2022

Investigation of the Release of Growth Factors from Nanofiber Mat Loaded with Apheresis Platelet Concentrate (APC)

Yılmaz H., Aras C., Karaçay M., Altuntuğ Cesur M. İ., Karaca E., Temel Ş. G., et al.
International Congress on Biological and Health Sciences, Afyonkarahisar, Turkey, 26 February 2022 Creative Commons License

Precision Medicine: Liquid Biopsy and Fusion Detection by Next generation sequencing

TEMEL Ş. G.
ERCIYES TIP GENETIK GUNLERI, 16 September 2021

NANOBUBBLE OZONE STORED IN HYALURONIC ACID-DECORATED LIPOSOMAL SOLUTION: A NEW STRATEGY FOR ANTIBACTERIAL &amp; ANTIVIRAL EFFECT

TEMEL Ş. G., ERKAN ALKAN P., MÜJDE C., Polat H., Ornek Erguzeloglu C., BİŞGİN A., et al.
EBTNA 2021, Poland, 23 September 2021 - 25 September 2022

Use of a Kiosk-Model Self-Triage System for COVID-19 Triage

GÖREK DİLEKTAŞLI A., BÜLBÜL BAŞKAN E., TEMEL Ş. G., DURAK V. A., ARMAĞAN E.
EBTNA 2021, 23 September 2021 Sustainable Development

Bilgisayar-Tabanlı Bulanık Mantık Yöntemi Kullanılarak Brca-Negatif Kalıtsal eme Kanseri Klinik Ve Varyant Risk Değerlendirmesi

ŞENTÜRK N., VOLKAN P. G., TUNCEL DEREBOYLU G., DOĞAN B., ALİYEVA L., DÜNDAR M. S., et al.
1. Ulusal HematoOnkogenetik Kongresi, Antalya, Turkey, 25 November 2021

Production and purification of polyclonal antibody: experiences from the lab benchtop

TEMEL Ş. G.
european bıotechnology congress 2020, 24 September 2020

Identification of human microbiota-related key genes and molecular pathways in colorectal adenocarcinoma by integrative bioinformatics analysis

PİRİM D., DOĞAN B., ÖRNEK ERGÜZELOĞLU C., ALEMDAR A., TEMEL Ş. G.
2nd International Conference on Preventive Medicine, Turkey, 25 - 28 November 2020, vol.1, pp.37-38

Developing fuzzy logic tool for diagnosis of BRCA1 and BRCA2 negative hereditary breast cancer

ERGÖREN M. Ç., VOLKAN P. G., ŞENTÜRK N., TUNCEL DEREBOYLU G., DÜNDAR M., KENANOĞLU S., et al.
American Society of Human Genetics, Washington, Kiribati, 27 October 2020

Interferometric Detection of Sars-Cov-2 Virus with Thinned Optical Fiber

Alemdar A., Coşkun B., Bayram Ü., Muzafferoğlu N., Karpat F., Temel Ş. G.
ASGH 2020 American Society of Human Genetics, Maryland, United States Of America, 27 October 2020 - 30 January 2021, pp.1 Sustainable Development

Analysis 1268 breakpoints from balanced chromosomal abnormalities reveals patterns of three dimensional reorganization associated with human developmental anomalies

Lowther C., Julia M., MM M., Bak M., Collins R., Brand H., et al.
ASHG 2019, 15 - 19 October 2020

In Silico Approach to Melanoma and Long Non-Coding RNAs

Doğan B., Özemri Sağ Ş., Temel Ş. G.
1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Turkey, 9 - 11 January 2020, vol.31, pp.72-73

Comprehensive Bioinformatic Analyses Of BRCA1/2 Variants Identified in Individuals With Personal and/or Family Hıstory of BRCA-Related Cancers

PİRİM D., kaya n., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Turkey, 9 - 11 January 2020 Sustainable Development

Analysis of Alterations Between Variant Annotations in Clinvar Datasets

Alemdar A., Dedeoğlu B., Örnek C., Özcan G., Temel Ş. G.
1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Turkey, 9 - 11 January 2020, vol.32, no.2 Creative Commons License

Rare Desmoplakin Phenotype: Skin Fragility / Woolly Hair Syndrome

MANAV KABAYEĞİT Z., ALİYEVA L., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
1st Bursa International Genetics Days: Dermatogenetics Symposium, Turkey, 9 - 11 January 2020

TACI Mutasyonu Olan Hastaların Değerlendirilmesi

ÇEKİÇ Ş., ÇİÇEK F., KARALI Y., ELMAS E., görükmez o., TEMEL Ş. G., et al.
16. Uludağ Pediatri Kış Kongresi, Turkey, 8 - 11 March 2020

ROBOTIC SMALL MOLECULE INHIBITOR LIBRARY SCREENING FOR MCL-1 THROUGH BH3 PROFILING

Atay Ö., TEMEL Ş. G., BAŞAĞA S. H., KÜTÜK Ö.
BIOTÜRKIYE, 05 March 2020

Analysis Of Alterations Between Variant Annotations in Clinvar Datasets

ALEMDAR A., Cemre O., ÖZCAN G., TEMEL Ş. G.
1.Bursa Uluslararası Katılımlı Genetik Güneri: Dermatogenetik Sempozyumu, Turkey, 9 - 11 January 2020

Molecular Autopsy: The importance of the postmortem genetic testing

TEMEL Ş. G.
V.Erciyes Medical Genetic Days 2020, Turkey, 20 February 2020

Developing evidence based computerized diagnostic tools for breast cancer early prediction

Şentürk N., Tuncel G., Köseoğlu S., Doğan B., Özemri Sağ Ş., Mocan G., et al.
V. Uluslararası Katılımlı Erciyes Tıp Genetik Günleri Kongresi, Turkey, 20 - 22 February 2020 Sustainable Development

A balanced translocation t(27)(p21p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf syndromes

Turkgenc B., TEMEL Ş. G.
EUROPEAN JOURNAL OF HUMAN GENETICS, Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1271

A family with X-linked recessive hypohidroticectodermal dysplasia due to EDA c.895G Amutation

TEMEL Ş. G., ÇEVİK M. Ö.
EBTNA 2019 valencia, 11 - 13 April 2019, vol.3015, pp.28-29

Mutation status and immunohistochemical correlation of EGFR mutations in gastric cancer patients

Ozkayalar H., Kurt S., Cevik E., Ergoren M. C., Mocan G., Temel Ş. G.
European Biotechnology Congress, Valencia, Spain, 11 - 13 April 2019, vol.305 Sustainable Development identifier

Application of next generation sequencing in rare disorders

Temel Ş. G.
European Biotechnology Congress, Valencia, Spain, 11 - 13 April 2019, vol.305 identifier

Application of high-throughput DNA sequencing to score population-specific variants for rare disorders

Ergoren M. C., Manara E., Paolacci S., Temel Ş. G., Mocan G., Dundar M., et al.
European Biotechnology Congress, Valencia, Spain, 11 - 13 April 2019, vol.305 identifier

Next generation sequencing-based gene panel tests for the diagnosis of hereditary cancers

ZEYBEK S., ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., et al.
American Society of Human Genetics 69th Annual Meeting, Houston, United States Of America, 15 - 19 October 2019 Sustainable Development

SOCS Gene Polymorphism In Vitiligo Patients.

IRMAK YAZİCİ E., SARICAOĞLU H., TEMEL Ş. G., BÜLBÜL BAŞKAN E., AYDOĞAN K., YAZİCİ S., et al.
28th EADV Congress. Madrit, 9 - 13 October 2019

A balanced translocation t(2;7)(p21;p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf syndromes

Turkgenc B., Aguilar R. P., Curral B., Lowther C., Wilch E. S., Talkowski M., et al.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1271 identifier

Identification of a Novel Genetic Cause of Familial Nonobstructive Azospermia

Temel Ş. G., Turkgenc B., Terali K., Ergoren M., Cetinkaya M., Basar M., et al.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1190-1191 identifier

WAC geninde tanımlanan yeni bir varyant ve DeSanto-Shinawi Sendromu

Tunç E., TEMEL Ş. G., ALANAY Y.
4.Çocuk Genetik Kongresi, Turkey, 25 - 27 September 2019

Meester-Loeys sendromu: Marfan benzeri sendromlara yeni bir üye

ZEYBEK S., TEMEL Ş. G., NUR B., ÖZEMRİ SAĞ Ş., ALANAY Y., MIHÇI E.
4. Ulusal Çocuk Genetik Kongresi, Turkey, 25 - 27 September 2019

Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene

Kablan A., Mat B., Temel Ş. G., ALANAY Y.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.916-917 identifier

yPsychomotor delay in a child with Achondroplasia

Ergoren M. C., Aliyeva L., EREN E., Manara E., Paolacci S., Mocan G., 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, Italy, 16 - 19 June 2018, vol.27, pp.916 identifier

Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients

Turkgenc B., Temel Ş. G., Uysal F., Atik S. U., Oztunc F., Sulu 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, Italy, 16 - 19 June 2018, vol.27, pp.150 identifier

Targeted gene panel sequencing for hereditary kidney diseases: efficiently detects candidate pathogenic variants related with these disorders

kaya n., ALKAYA A., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.
Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Turkey, 21 - 23 February 2019

Vitiligo tanılı olgularda SOCS gen polimorfizmi

IRMAK YAZİCİ E., SARICAOĞLU H., TEMEL Ş. G., BÜLBÜL BAŞKAN E., AYDOĞAN K., YAZİCİ S., et al.
14. Ege Dermatoloji Kongresi, Turkey, 1 - 05 May 2019

Identification of BRCA1/2 Variants via Next Generation Sequencing for Therapeutic Approach

Özemri Sağ Ş., Kaya N., Alıyeva L., Kablan A., Örnek C., Doğan B., et al.
13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019

Genetic evaluation of the CFTR gene and comprehensive analysis of the sequence

Yılmaz E. B., kaya n., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.
13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019

Molecular diagnosis of connective tissue disorders using targeted gene panel screening

KABLAN A., kaya n., Aliyeva L., PİRİM D., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., et al.
13th Balkan Congress of Human Genetics, Edirne, Edirne, Turkey, 17 - 20 April 2019

Diagnostic efficiency of multiple gene panel in cardiomyopathy and hereditary arrhythmias

ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.
13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019

Targeted gene panel sequencing for hereditary Cancers: Diagnostic Efficiency

Temel Ş. G., Alemdar A., Kaya N., Aliyeva L., Kablan A., Pirim D., et al.
13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019 Sustainable Development

A rare case report of SMARD1 (SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 syndrome.

ALİYEVA L., KABLAN A., TÜTÜNCÜ TOKER R., OKAN M. S., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019, vol.22

High-throughput DNA sequencing-based genomic profiling analysis reveals novelhomozygote mutations-phenotype association for severe dilated cardiomyopathy in a Turkishheritage patient.

ERGÖREN M. Ç., AKCAN N., YÜKSEL Ü., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
13.Balkan Congress Of Human Genetics, 17 - 20 April 2019

Application of Next Generation Sequencing in Rare Disorders

TEMEL Ş. G.
EBTNA 2019 Valencia, 11 April 2019

Osteogenezis imperfekta ön tanılı hastaların hedefe yönelik gen paneli kullanilarak yeni nesil tekniği ile dizilenmesi

Aliyeva L., kaya n., KABLAN A., PİRİM D., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., et al.
3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 7 - 09 March 2019

A population based study: genetics of smoking

KANDEMİŞ E., TEMEL Ş. G., ERGÖREN M. Ç.
Erciyes Tıp Genetik Günleri, Turkey, 21 - 23 February 2019

A case with a de novoheterozygote ACTG1 variant:Genotype-phenotype correlation

KABLAN A., ALİYEVA L., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.
Uluslararası KatılımlıErciyes Tıp Genetik Günleri 2019, Turkey, 21 - 23 February 2019

Heritable connective tissuedisorders and accompanyingcardiovascular abnormalities

TEMEL Ş. G.
Erciyes Tip Genetik Günleri 2019, Turkey, 21 February 2019

Identification and analysis of novel variants associated with breast and ovarian cancer in BRCA1 and BRCA2 Genes

Aliyeva L., kaya n., kurt z., KABLAN A., ÖZEMRİ SAĞ Ş., PİRİM D., et al.
13. Ulusal Tıbbi Genetik Kongresi Antalya, Antalya, Turkey, 7 - 11 November 2018 Sustainable Development

Screening of common and novel variants in the MEFV Gene in patients with familial mediterranean fever (FMF) symptoms by using next generation sequencing

kaya n., kurt z., Aliyeva L., KABLAN A., ÖZEMRİ SAĞ Ş., UZ YILDIRIM E., et al.
13. Ulusal Tıbbi Genetik Kongresi, Antalya, 2018, Antalya, Turkey, 7 - 11 November 2018

On the Contribution of Computational Biology to the Functional Exploration of Missense Mutants: A Case-Based Overview

TERALI K., TEMEL Ş. G.
XIII.Uluslararası Katılımlı Tibbi Genetik Kongresi, 7 - 11 November 2018

Identification of the FGFR3 G380R Mutant As a Likely Cause of Psychomotor Delay in an Achondroplastic Child: A Combined Clinical Exome Sequencing and Biomolecular Modeling Approach

TEMEL Ş. G., TERALI K.
2nd International Cell Death Research Congress, 01 November 2018

Baraitser-Winter Syndrome in a boy with heterozygous missense mutation in the ACTB gene

Temel Ş. G., Ekmekci G., Yenmis G., Kiper P. O. S., ALANAY Y.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.956 identifier

Psoriasis ve 5HT2CR gen polimorfizmi: klinik, demografik ve tedavi ilişkisi

YAZİCİ S., YILMAZ İ., BÜLBÜL BAŞKAN E., ORAL H. B., TEMEL Ş. G., AYDOĞAN K.
7. Dermatoimmünoloji ve Alerji Güz Okulu, Muğla, Turkey, 26 - 29 September 2018, vol.2018

Lysinuric protein intolerance and HOIP deficiency in a boy: SLCA7A and RNF31 gene disruptions

Aliyeva L., ERDÖL Ş., Gorukmez O., Turkgenc B., GÜRKAN H., Yarali Y., et al.
European Biotechnology Congress, Athens, Greece, 26 - 28 April 2018, vol.280 identifier

Postmortem genetic testing in sudden cardiac death: To be or not to be?

TEMEL Ş. G., Turkgenc B., Akcay A., KÖSELER A., Yakicier C.
European Biotechnology Congress, Athens, Greece, 26 - 28 April 2018, vol.280 identifier

The Use of High-throughput DNA Sequencing to Identify Genes for Rare Diseases. Second International Biomedical Engineering Congress (IBMEC 2018) 24th-27th May 2018 Nicosia, Cyprus, Oral presentation.2018

ERGÖREN M. Ç., MOCAN G., TEMEL Ş. G., TERALI K., Şanlidağ B., FAHRİOĞLU U., et al.
IBMEC, 24 - 27 May 2018

GENETICS OF HEREDITARY ARRHYTMIAS

TEMEL Ş. G.
Erciyest Tıp Genetik Günleri 2018, Turkey, 07 March 2018

Lysinuric protein intolerance and HOIP deficiency in a boy with homozygous missense mutation in the RNF31 gene and homozygous deletion of SLC7A7 gene

ALİYEVA L., ERDÖL Ş., GÖRÜKMEZ O., GÜRKAN H., KARALI Y., BAYTAN B., et al.
Erciyes Tıp Genetik Günleri, Kayseri, Turkey, 7 - 10 March 2018

Trombozda moleküler genetik mekanızmalar ve genetik danışma

TEMEL Ş. G.
3.Ege Hematolojik Genetik Sempozyumu, Turkey, 14 February 2018

Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome

TEMEL Ş. G., Turkgenc B., Karadag O., Aykan H. H., UYSAL F., Bastuhan I. Y., et al.
European Biotechnology Congress, 25 - 27 May 2017

The association of TMPO and RYR1 genes with cardiovascular diseases in a Turkish Cypriot Family.

ERGÖREN M. Ç., KALKAN R., Turkgenc B., TEMEL Ş. G.
ASHG Conference 2017, 17 - 21 October 2017 Sustainable Development

Robinow, Ter-Haar, Teebi or a new syndrome: Complex genotype with distinctive craniofacial features

UYSAL F., TEMEL Ş. G., Turkgenc B.
American Society of Human Genetics 2108, 17 - 21 October 2017

In silico analysis and identification of TYR mutations in a Cypriot family.

KALKAN R., Tülay P., ERGÖREN M. Ç., Turkgenc B., Ogur C., TEMEL Ş. G.
American Society of Human Genetics 2017, 17 - 21 October 2017

Understanding the impact of a novel homozygous nonsense CAST gene mutation in a PLACK family.

TEMEL Ş. G., Bahriye K., Turkgenc B., Zorlu O., UMIT K., YAKICIER M. C., et al.
ASHG Conference 2017, 17 - 21 October 2017

Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome

Temel Ş. G., Turkgenc B., Karadag O., Aykan H. H., Uysal F., Bastuhan I. Y., et al.
European Biotechnology Congress, Dubrovnik, Croatia, 25 - 27 May 2017, vol.256 identifier

E11.2 - Recommendations for the management of sudden cardiac deathsudden cardiac death forensic autopsy genetic testing

Felman F., Basso C., Charron P., Wilde A., Mary S., Tasse A. M., et al.
ESHG2017 Congress, 27 - 30 May 2017

Baraitser-Winter Syndromein a boy with heterozygote missense mutation in the ACTB gene.

TEMEL Ş. G., ALANAY Y., Cumhur E., Pelin Özlem K. Ş.
ESHG Conference 2017, 27 - 30 May 2017

Arterial tortuosity syndrome: 37 new families and literature review

Aude B., BOSTAN Ö. M., Salih M., Gezdirici A., Van LAER l., Taylor A., et al.
ESHG Conference 2017, 27 - 30 May 2016

EXPLORING/DEFINING THE ROLE OF A NOVEL HOMOZYGOUS NONSENSE CAST MUTATION IN A PLACK FAMILY

TEMEL Ş. G., Karakas B., SARICAOĞLU H., Turkgenc B., Zorlu O., KÜTÜK Ö., et al.
Erciyes Tıp Genetik Günleri, Turkey, 11 - 13 May 2017

Molecular aproach of targeted next generation sequencing of 68 genes involved in cardiac arrhythmias of 148 unrelated patients.

Turkgenc B., TEMEL Ş. G., Karadag O., AYKAN H. H., UYSAL F., Bastuhan I. Y., et al.
ASHG Conference 2017, 17 October - 21 January 2017

PREDICTION OF ENDOCRINE THERAPY RESPONSE AND RESISTANCE IN BREAST CANCER CELLS BY EXPLOITING THE MITOCHONDRIA AND ESTROGEN RECEPTOR STATUS

Karakas B., GİRAY A., GÜL Ö., TEMEL Ş. G., BAŞAĞA S. H., KÜTÜK Ö.
6.Multidisipliner Kanser Araştırma Kongresi, 27 - 30 October 2016 Sustainable Development

Mitochondrial estrogen receptors and endocrine therapy response

GİRAY A., Karakas B., TEMEL Ş. G., KÜTÜK Ö., BAŞAĞA S. H.
3rd World Congress on Women’s Health and Breast Cancer, 03 October 2016

Homozygous and compund heterozygote mutation in 3 Turkish family with Jervell Lange Nielsen syndrom

TEMEL Ş. G., UYSAL F., Güven T., BOSTAN Ö. M., Elif E., UYGUNER Z. O., et al.
European society of Human genetics congress, 6 - 09 June 2015

Herediter aritmi sendromu mu? Epılepsı mı? Yoksa herıkısı de mı?

TEMEL Ş. G., UYSAL F., BOSTAN Ö. M., Turkgenc B., YAKICIER M. C., Çil E.
3.Nörometabolik Dismorfoloji Günleri, Turkey, 10 - 12 March 2016

Arterial tourtosity in two Turkish pediatric patients with novel homozygous missense mutations in the SLC2A10 gene

UYSAL F., TEMEL Ş. G., BOSTAN Ö. M., Proost D., LAER L. V., LOEYS B., et al.
American Society of Human Genetics 2015, Baltimore, 6 - 10 October 2015

Arterial tourtosity in twu Turkish pediatric patient with novel homozygous mutaion in SLC2A10 gene

UYSAL F., TEMEL Ş. G., BOSTAN Ö. M., Lut V. L., Ergun Ç., Loeys B.
American Society of Human Gnetics Congress, 6 - 10 October 2015

From death to life Back to the future Detailed premorbid clinical and family history can save the lifes and adress the final diagnosis in sudden unexplained deaths with negative otopsy

TEMEL Ş. G., BAYDAR Ç. L., Burcu T., Sıla U., Minel Ö., Cenk C., et al.
American Society uf Human Genetics congress, 6 - 10 October 2015

A custom Amplisec arrhytmia panel comprimising 68 cardiac chanelopathy genes is a gold standard for the rapid and sensitive detection of genetic variation in long Qt syndrome

Burcu T., TEMEL Ş. G., AYKAN H. H., SÜLÜ A., UYSAL F., BAŞPINAR O., et al.
American Society of Human Genetics Congress, 6 - 10 October 2015

DOES OVARIAN STIMULATION DURATION MAKE ANY DIFFERENCE ON PREGNANCY OUTCOMES IN POOR RESPONDER PATIENTS UNDERGOING IVF-ICSI CYCLES WITH GnRH ANTAGONIST PROTOCOL?

Aybar F., Cil A. P., Batmaz G., Temel Ş. G., Kahraman S.
International-Federation-of-Fertility-Societies 21st World Congress on Fertility and Sterility / 69th Annual Meeting of the American-Society-for-Reproductive-Medicine, Massachusetts, United States Of America, 12 - 17 October 2013, vol.100 identifier

EVALUATION OF THE OOCYTE MORPHOLOGY IN THE PATIENTS UNDERGOING IVF-ICSI CYCLES RECEIVING GnRH AGONISTS AND ANTAGONISTS PROTOCOLS: A RETROSPECTIVE STUDY.

Tufekci M. A., Temel Ş. G., Aybar F., Yelke H. K., Kahraman S.
International-Federation-of-Fertility-Societies 21st World Congress on Fertility and Sterility / 69th Annual Meeting of the American-Society-for-Reproductive-Medicine, Massachusetts, United States Of America, 12 - 17 October 2013, vol.100 identifier

POSSIBLE ASSOCIATION BETWEEN CNVs IN Xp IN VCX3A GENE AND OVARIAN DYSFUNCTION.

Temel Ş. G., Aybar F., Onal M., Gumuslu E., Ekmekci C. G., Kahraman S.
International-Federation-of-Fertility-Societies 21st World Congress on Fertility and Sterility / 69th Annual Meeting of the American-Society-for-Reproductive-Medicine, Massachusetts, United States Of America, 12 - 17 October 2013, vol.100 identifier

Preimplantation genetic diagnosis (PGD) for inversion carriers

Temel Ş. G., Beyazyurek C., Ekmekci G. C., Aybar F., Cinar C., Kahraman S.
29th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE), London, Canada, 7 - 10 July 2013, vol.28, pp.304-305 identifier

Microwave-assisted antigen retrieval and primary antibody incubation of COX-2 in archival paraffin embedded human oligodendrogliomas

TEMEL Ş. G., ERSOY S., KAHVECİ Z., JENNES L.
Society for Neuroscience 32nd Annual Meeting, United States Of America, 2 - 07 November 2002

Next Generation Solutions in Diagnosis of Ciliopathy: From Functional Genomics to AI Based Approaches

TEMEL Ş. G.
ERCIYES TIP TIBBI GENETIK KONGRESI, 26 May 2022
Books

Performance measurements of 12 different machine learning algorithms that make personalized psoriasis treatment recommendations with a database of psoriasis patients responding to treatment

Altıparmak H., Yazici S., Yılmaz İ., Bülbül Başkan E., Oral H. B., Aydoğan K., et al.
in: Computational Intelligence and Blockchain in Complex Systems System Security and Interdisciplinary Applications A volume in Advanced Studies in Complex Systems, Fadi Al-Turjman, Editor, Morgan Kaufmann Publishers , Massachusetts, pp.85-95, 2024 Creative Commons License

Peroxisome Biogenesis Disorder: Types 1-14, A (Zellweger) and B

Ismael A., Köse M., Temel Ş. G., Ergören M. C.
in: Genetic Syndromes: A comprehensive Reference Guide, Nima Rezaei, Editor, Springer, London/Berlin , London, pp.1-5, 2023

Dismorfik Çocukta Temel Fizik Muayene

TEMEL Ş. G., ÖZKINAY F. F.
in: Cocuklarda Oyku Alma ve Fizik Muayene, Ergun Cil, Ozlem Bostan, Erdal Eren, Fahrettin Uysal, Editor, Nobel Tıp, pp.247-277, 2019

Iskelet Displazileri

ÖZEMRİ SAĞ Ş., ZEYBEK S., TEMEL Ş. G.
in: Cocüklarda Bulgudan Tanıya, Ergun çil, Ozlem Bostan, FAHRETTIN uYSAL, eRDAL eREN, Editor, Istanbul Tıp, İstanbul, pp.318-322, 2019

Mental Retardasyona Genetik Yaklaşım

ÖZEMRİ SAĞ Ş., ZEYBEK S., TEMEL Ş. G.
in: Çocuklarda Bulgudan Tanıya, Ergun Çil, Fahrettin Uysal, Özlem Bostan, Erdal Eren, Editor, Istanbul Tıp Kitapevi, İstanbul, pp.403-407, 2019
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