Metrics
Publication
19
Open Access
2
Education
2025 - Present
2025 - PresentPost Doctorate
Georg-August-Universitaet Göttingen, Institute of Human Genetics of the University Medical Center Göttingen, Germany
2018 - 2020
2018 - 2020Post Doctorate
Georg-August-Universitaet Göttingen, Germany
2014 - 2018
2014 - 2018Doctorate
Universitaet zu Köln, Institute For Biochemistry, Medical Faculty And Cologne Center For Genomics, Germany
2011 - 2013
2011 - 2013Postgraduate
Universität Zu Köln, Biyoloji Bilimi (Genetik), Germany
Dissertations
2018
2018Doctorate
Role of CSNK2B encoding casein kinase II subunit beta in Filippi Syndrome
Universitaet zu Köln, Institute For Biochemistry, Medical Faculty And Cologne Center For Genomics
2013
2013Postgraduate
Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome
Universität Zu Köln, Biyoloji Bilimi (Genetik)
Foreign Languages
B2 Upper Intermediate
B2 Upper IntermediateGerman
C1 Advanced
C1 AdvancedEnglish
Research Areas
Bioinformatics
Molecular Biology and Genetics
Genetic Disorders
Genomics
Animal Molecular Genetics
Research Areas Based on Academic Activities
Avesis Research Areas
WoS Research Areas
Scopus Research Areas
Academic Positions
2020 - Present
2020 - PresentAssistant Professor
Bilecik Seyh Edebali University, FEN FAKÜLTESİ, MOLEKÜLER BİYOLOJİ VE GENETİK
Articles
All (7)
SCI-E, SSCI, AHCI (6)
SCI-E, SSCI, AHCI, ESCI (6)
Scopus (7)
2025
20251. Synergistic MDM2-STAT3 Inhibition Demonstrates Strong Anti-Leukemic Efficacy in Acute Lymphoblastic Leukemia.
Aptullahoglu E., Kaygusuz E.
International journal of molecular sciences
, vol.26, no.17, 2025 (SCI-Expanded, Scopus)
2022
20222. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Asif M., Kaygusuz E., Shinawi M., Nickelsen A., Hsieh T., Wagle P., et al.
Human Genetics and Genomics Advances
, vol.3, no.3, 2022 (Scopus)
2022
20223. Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G., Sheffer R., Daana M., Li Y., Kaygusuz E., Mor-Shakad H., et al.
Journal of medical genetics
, vol.59, no.6, pp.549-553, 2022 (SCI-Expanded, Scopus)
2021
20214. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E., Khayyat A. I. A., Abdullah U., Budde B. S., Asif M., Ahmed I., et al.
Clinical genetics
, vol.100, no.4, pp.486-488, 2021 (SCI-Expanded, Scopus)
2021
20215. Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom E. U. H., Waseem S. S., Iqbal M., Abdullah U., Hussain G., Asif M., et al.
Genes
, vol.12, no.5, 2021 (SCI-Expanded, Scopus)
2020
20206. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S., Baig J. M., Moawia A., Ahmad I., Iqbal M., Waseem S. S., et al.
Molecular genetics & genomic medicine
, vol.8, no.9, 2020 (SCI-Expanded, Scopus)
2014
20147. Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome
Hussain M. S., Battaglia A., Szczepanski S., Kaygusuz E., Toliat M. R., Sakakibara S., et al.
American Journal of Human Genetics
, vol.95, no.5, pp.622-632, 2014 (SCI-Expanded, Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences
2022
20221. Role of encoding casein kinase II subunit beta in a new intellectual disability-craniodigital syndrome (Davetli Konuşmacı)
KAYGUSUZ E.
Workshop on Rare Diseases, İstanbul, Turkey, 03 December 2022, (Summary Text)
2022
20222. De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway (Davetli Konuşmacı)
KAYGUSUZ E.
8th International Congress of the Molecular Biology Association of Turkey, İstanbul, Turkey, 9 - 12 June 2022, (Summary Text)
2017
20173. Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome
KAYGUSUZ E.
5th International Congress of the Molecular Biology Association of Turkey, İstanbul, Turkey, 08 September 2017, (Summary Text)
2020
20204. De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome
KAYGUSUZ E., Asif M.
European Society of Human Genetics (ESHG) Conference, Glasgow, England, 06 June 2020, (Summary Text)
2019
20195. De novo mutation of CSNK2B encoding beta subunit of casein kinase 2 causes Filippi syndrome
KAYGUSUZ E.
52nd European Society of Human Genetics (ESHG) Conference, Gothenburg, Sweden, 15 June 2019, (Summary Text)
2019
20196. Pathogenic consequences of impaired Wnt signaling and DNA damage response delineates Filippi syndrome
KAYGUSUZ E., Asif M., Brancati F., Nickelsen A., Nienberg C., Jose J., et al.
35th Ernst Klenk Symposium in Molecular Medicine, Cologne, Germany, 15 - 17 September 2019, (Summary Text)
2017
20177. Identification of a founder mutation in Pakistani families affected with Jawad syndrome
KAYGUSUZ E., Nürnberg P., Noegel A., Hussain M. S.
Arbeitsgemeinschaft Für Gen-Diagnostik e.V., Berlin, Germany, 6 - 08 October 2017, (Summary Text)
2017
20178. Identification of Founder Mutation in Pakistani Families Affected With Jawad Syndrome
KAYGUSUZ E., Hussain M. S., Nürnberg P., Noegel A., Altmüller J., Budde B., et al.
5th International Congress of the Molecular Biology Association of Turkey, İstanbul, Turkey, 8 - 10 September 2017, (Summary Text)
2015
20159. Filippi syndrome is aheterogenic disorder with a high proportion of CKAP2L mutations
KAYGUSUZ E., Hussain M. S., Szczepanski S., Nürnberg P., Noegel A.
31st Ernst Klenk Symposium in Molecular Medicine, Cologne, Germany, 27 - 29 September 2015, (Summary Text)
2015
201510. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome
KAYGUSUZ E., Hussain M. S., Altmüller J., Wollnik B., Szczepanski S., Noegel A., et al.
International Meeting of the German Society for Cell Biology, Cologne, Germany, 24 - 27 March 2015, (Summary Text)
Books
2022
20221. Describing genetic basis and disease pathogenesis of Filippi syndrome
KAYGUSUZ E.
Cinius, İstanbul, 2022
2021
20212. Identification of RBBP8 mutation in Pakistani families affected with Jawad Syndrome
KAYGUSUZ E.
Cinius Yayınları, 2021
Funded Projects
2021 - 2024
2021 - 2024Investigating the Combined Targeting of MDM2 and STAT3 as a New Therapeutic Approach in Acute Lymphoblastic Leukemia
TUBITAK Project , 3501 - National Young Researcher Career Development Program
Aptullahoğlu E. (Executive), Kaygusuz E.
2017 - 2019
2017 - 2019Role of Wnt signaling in the etiology of Filippi syndrome and ectrodactyly ectodermal dysplasia
Project Supported by Public Organizations in Other Countries
Kaygusuz E., Hussain M. S., Khayyat A. I., Iqbal M., Asif M., Noegel A.(Executive), et al.
2014 - 2016
2014 - 2016Molecular basis of disturbed neurogenesis in primary microcephaly
Other International Funding Programs
Kaygusuz E., Hussain M. S., Ahmed I., Szczepanski S., Nürnberg P.(Executive), Noegel A.(Executive)
2012 - 2014
2012 - 2014Paradigm of the centrosomal and cell cycle regulator proteins in embryonic development
Project Supported by Public Organizations in Other Countries
Kaygusuz E., Hussain M. S., Szczepanski S., Noegel A.(Executive), Nürnberg P.(Executive)
Peer Reviews in Scientific Publications
September 2025
September 2025NEUROGENETICS
SCI Journal
September 2025
September 2025BMC NEUROLOGY
SCI Journal
May 2024
May 2024CLINICAL GENETICS
SCI Journal
June 2023
June 2023Bilecik Şeyh Edebali Üniversitesi Fen Bilimleri Dergisi
National Scientific Refreed Journal
Scientific Project Refereeing
May 2024
May 2024Project Supported by Higher Education Institutions
BAP MSc, Karadeniz Technical University, Turkey
December 2021
December 2021Project Supported by Higher Education Institutions
BAP Research Project, Bilecik Seyh Edebali University, Turkey
Awards
January 2010
January 2010Yurtdışı doktora öğrenimi bursu - Republic of Turkey Ministry of National Education PhD Scholarship
Milli Eğitim Bakanlığı
Congress and Symposium Activities
03 December 2022 - 03 December 2022
03 December 2022 - 03 December 2022Workshop on Rare Diseases
Invited Speaker
İstanbul-Turkey
09 June 2022 - 12 June 2022
09 June 2022 - 12 June 2022