Burcu TÜRKGENÇ, Ph.D

Assistant Professor

burcu.turkgencuskudar.edu.tr

(0216) 400 2222 / 3046

ORCID: 000-0001-7306-5866

Citation : 301 | h-index : 8 | i10-index : 7

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UN Sustainable Development Goal Labels Matching with Research Fields

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Short CV

Burcu Türkgenç was born in Giresun in 1981. She received her B. A. from the Department of Biology, Faculty of Science, Hacettepe University in 2003. Afterward, Türkgenç received her M.S from the Department of Biotechnology, Faculty of Science, Hacettepe University in 2007, and completed her Ph.D. from the Department of Medical Biology and Genetics, Marmara University in 2016. She commenced her career as a project assistant in the Gene Mapping Laboratory, Department of Pediatric Hematology, İhsan Doğramacı Hospital, Faculty of Medicine, Hacettepe University in 2004. She worked as a Biology Specialist/Molecular Biologist/Coordinator in various genetic diagnosis centers in Istanbul between 2007 and 2021. She obtained the title of Assistant Professor in Medical Biology and Genetics in 2021. 
Her Ph.D. study was supported by the Ministry of Science, Industry and Technology (San-Tez) Project. During this project, Türkgenç studied the molecular mechanisms of hereditary cardiological rhythm disorders, including Long QT Syndrome. Türkgenç, who has many studies and publications in the different subfields of human genetics including single gene and complex gene disorders (e.g. Cardiogenetics, Immunogenetics, Neurogenetics, Cancer Genetics, Skeletal, Connective Tissue, and Skin Diseases Genetics, Infertility…), has been working as an assistant professor in the Department of Medical Biology, Faculty of Medicine, Üsküdar University since 2022.

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Education Status & Academic Titles

2003

Undergraduate Degree

Hacettepe Üniversitesi hacettepe üniversitesi

2007

Master Degree

Hacettepe Üniversitesi Biyoteknoloji

2016

Doctorate

Marmara Üniversitesi Tıbbi Biyoloji ve Genetik

Supervised Graduate Theses

  1. ÖZGÜN BİR GENETİK PROTOKOL ile ERKEK İNFERTİL HASTALARDA Y MİKRODELESYONLARININ İNCELENMESİ, 2024.

Academic Activities > Publications

(Scopus) Toplam: 15

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy

Journal of Neurogenetics (2024)

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy

Journal of Neurogenetics (2024)

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

Applied Immunohistochemistry & Molecular Morphology (2023)

MGMT in glial carcinogenesis. Roles from prevention to treatment

European Journal of Cancer Prevention (2022)

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

FUNCTIONAL & INTEGRATIVE GENOMICS (2022)

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

American journal of human genetics (2020)

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome

CELL AND TISSUE RESEARCH (2019)

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

Connective Tissue Research (2019)

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

Human Mutation (2018)

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

BMC Medical Genetics (2017)

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

Frontiers in Endocrinology (2017)

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Molecular Genetics & Genomic Medicine (2013)

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

Clinical Genetics (2009)

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

British Journal of Ophthalmology (2008)

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region

American Journal of Medical Genetics Part A (2007)

Academic Activities > Book - Book Chapter

(Other) Toplam: 1
  1. BRS: Hücre Biyolojisi ve Histoloji (Leslie P. Gartner, James L. Hiatt,yedinci baskı), 3. Bölüm: Sitoplazma ve Organeller, Burcu Türkgenç, Şehime Gülsün Temel, Istanbul Tıp Kitabevi, 2016

Academic Activities > Congress - Conference Participation

  1. 2. Tıp Öğrencileri Kongresi-‘Doğal Afetlere Tıbbi Yaklaşım’, 2023.

Administrative Activities

  1. Koordinatör / Coordinator, Erasmus Koordinatörlüğü (Enstitü / Fakülte / MYO), (2023 - Devam ediyor.)
  2. Ana Bilim Başkanı / Head of Department, Tıbbi Biyoloji Anabilim Dalı Başkanı, (2022 - Devam ediyor.)
  3. Koordinatör / Coordinator, Ders Yılı Koordinatörü - Tıp Fakültesi, (2022 - Devam ediyor.)
  4. Komisyon Üyesi / Member of Commission, Uluslararası Öğrenciler Akademik Komisyonu, (2022 - Devam ediyor.)
  5. Komisyon Üyesi / Member of Commission, Bologna Komisyonu, (2022 - Devam ediyor.)
  6. Çalışma Grubu Üyelikleri / Research Group Membership, NPNörogenetik Çalışma Grubu, (2022 - Devam ediyor.)

Awards

  1. ALS Tedavisinde Yenilikçi Bir Yaklaşım: Progranulin Artırılması ve Otofaji Aktivasyonu” başlıklı proje ile, TEKNOFEST 2024 Biyoteknoloji ve İnovasyon-Nadir Hastalıklar Genetik Tedavi Kategorisinde (RaDiChal), danışmanlığını yaptığım NeuroSpectra ekibi olarak, Türkiye 3.'lüğü ödülümüzü aldık., (Tübitak-SANAYİ ve Teknoloji Bakanlığı), 2024.

Education and Training Activities