2. academic degrees - Bilkent University - Faculty of Science

1. PERSONAL DATA
CURRICULUM VITAE
Tayfun OZCELİK
04.01.2011
Married to Iclal Büyükdevrim Ozcelik
Birth 7 January 1961 - Istanbul, Turkey
Address Department of Molecular Biology and Genetics, Faculty of Science B-238, Bilkent University,
Ankara, 06800, Turkey
Phone +90-312-290 2139
Fax +90-312-266 5097
e-mail tozcelik@bilkent.edu.tr
Web page http://www.fen.bilkent.edu.tr/~bilmbg/
2. ACADEMIC DEGREES
2004 Professor, Genetics - Bilkent University
1993 Associate Professor, Genetics - Istanbul University
1992 Assistant Professor, Genetics - Istanbul University
1990 Specialist in Medical Genetics, Turkey
1986 M.D., Istanbul University (Diploma No: 18497-21965)
3. EMPLOYMENT HISTORY and ACADEMIC APPOINTMENTS
2008- Chair, Department of Molecular Biology and Genetics, Bilkent University
2004- Professor, Department of Molecular Biology and Genetics, Bilkent University
1995-2004 Associate Professor, Department of Molecular Biology and Genetics, Bilkent University
1998-2000 Deputy Director, BilGen, Bilkent University
1992-1995 Associate Professor and Chair, Department of Genetics, DETAM, Istanbul University
1992-1993 Assistant Professor, Vice-Director, DETAM, Istanbul University
1989-1992 Associate, HHMI, Stanford University Medical School, Stanford, CA, USA
1987-1989 Postdoctoral Associate, Department of Human Genetics, Yale University School of Medicine
New Haven, CT, USA
1986-1987 Postdoctoral Fellow, Physiology Institute, Ludwig-Maximillian Universitaet München, Germany
4. PROFESSIONAL AWARDS
2006 Bayindir Science Prize, Turkey
2003 Advances in Hematology Award (1 st Prize) Pharmacia-Turkish Society of Hematology, Turkey
1996 TUBİTAK Science Young Investigator Award - Turkey
1995 Science Award of Roche /Brain Research Organization - Turkey, Istanbul, Turkey
5. HONORS, SCHOLARLY and PROFESSIONAL DUTIES and ACHIEVEMENTS
2010- Co-chair, Education Committee, European Society of Human Genetics
2009- Member, Turkish Academy of Sciences
2008-2013 Member, Board, European Society of Human Genetics
2008-2011 Member, Education Committee, European Society of Human Genetics
2008-2010 Corresponding member, International Federation of Human Genetics Societies
2006-2009 Member, Board of Directors, Bilkent University
2006-2010 Member, Committee of the Presidents of the National Societies of Human Genetics, Europe
2007-2009 Member, Board, Turkish Society of Medical Genetics
2005-2009 Member, Stem Cells Committee, Turkish Academy of Sciences
2008-2009 Member, Cancer Committee, Turkish Academy of Sciences
2005-2007 President, Turkish Society of Medical Genetics
2003-2005 Member, Board of Directors, UNICEF National Committee
2002-present Member, Board of Directors, Ayhan Sahenk Foundation
2003-2005 Member, Molecular Life Sciences Committee, Turkish Academy of Sciences.
2003-2006 Member, Quality Control and Standardization Committee Turkish Society of Medical Genetics,
1997-2004 Member, Faculty of Science Governing Board, Bilkent University
1991 Consultant, WHO, UNDP project TUR/86/012 in the field of molecular genetics
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6. MEMBERSHIPS
American Society of Human Genetics
European Society of Human Genetics
Turkish Society of Medical Genetics
Turkish Association of Neuromuscular Disorders
7. INVITED LECTURES and INVITED TALKS
2011 “Meditteranean Genome Project”, TUBITAK-MAM, GMBAE, Kocaeli
“Collaborative genomics for human health”, Koc University Faculty of Science, Istanbul
2010 “Uner Tan Syndrome and whole genome sequencing studies in humans”, Baskent University, Ankara
“Collaborative genomics in nanobiotechnology”, Faculty of Engineering, Bilkent University, Ankara
“10 th anniversary of the completion of the human genome project”, TUBITAK-MAM, GMBAE, Kocaeli
“Gene mapping and hereditary disorders”, Turkish Academy of Sciences, 2010 Academy Day, Istanbul
“Epigenetic control of stem cells”, 5 th TUBA Stem Cell Congress, Ankara
“Charles Darwin & Human Genetics”, Introduction to University Life Lecture, Bilkent University,Ankara
"State of the Art in Science, Transdisciplinarity, Perspectives 2030” 100th International Conference of the
Applied Econometrics Association, Nanotechnology, Informatics and New Economic Paradigms, Bilkent
University, Ankara
“Collaborative genomics for human health in the Mediterranean basin”, Medical Genetics Grand Rounds,
Stanford University Medical, Stanford, CA, USA
“Collaborative genomics in the Mediterranean basin and beyond”, Revitalizing Research in the Kurdistan
Region of Iraq International Conference, Erbil, Iraq
“Scientific collaborations and genome projects”, Hacettepe University Institute of Oncology, Ankara
2009 “VLDLR and quadrupedal locomotion in humans”, British Council & Darwin Now, Alexandria, Egypt
“The future beckons”, 2 nd Istanbul International Symposium on Public Health Genomics, Istanbul
“Search for the genes implicated in cerebellar hypoplasia and quadrupedal locomotion in humans”, 8 th
Balkan Meeting on Human Genetics, Dubrovnik, Croatia
“ISSCR- Guidelines for the clinical translation of stem cells”, 4 th TUBA Congress, Ankara
“Science and art”, Introduction to University Life Lecture, Bilkent University, Ankara
“Darwin Now”, Introduction to University Life Lecture, Bilkent University, Ankara
2008 “Loss of mosaicism for X-linked gene expression in autoimmunity” INSERM/PRO-A, Paris, France
“Genes and quadrupedal locomotion”, K. Yaltkaya Memorial Lecture, Akdeniz University, Antalya
“Quadrupedal locomotion in humans”, Ankara University, Biotechnology Institute, Ankara
“Genes & quadrupedal locomotion”, C. T. Gurson Memorial Lecture, Istanbul University, Istanbul
“How to clone a disease gene”, 8 th National Congress of Medical Genetics, Canakkale
“Identification of VLDLR in quadrupedal locomotion”, Bilkent University Library Lecture, Ankara
“Science and art”, Introduction to University Life Lecture, Bilkent University, Ankara
2007 “The X chromosome in autoimmune diseases”, University of Washington, Seattle, WA, USA
“An unbalanced X-autosome translocation in a male”, VIth European Cytogenetics Conference, Istanbul
“Loss of mosaicism for X-linked gene expression and autoimmunity”, PRBB, Barcelona, Spain
“X-inactivation and autoimmune diseases”, INSERM, Marseille, France
“Epigenetics and cancer”, 17 th National Cancer Congress, Antalya
“Ethical issues in stem cell research”, 7 th National Andrology Congress, Ankara
“Ethics and embryonic stem cells”, National Reconstructive Surgery Congress, Samsun
2006 “Introduction to medical genetics” XIth International Congress of Neuromuscular Disorders, Istanbul
“The role of X-chromosome inactivation in autoimmune diseases”, ICGEB, Trieste, Italy
“X-chromosome inactivation”, Macedonian Academy of Sciences, Skopje, Macedonia
“Legal and ethical aspects of embryonic stem cell research”, 2 nd TUBA Congress, Istanbul
“X-chromosome inactivation and autoimmune diseases”, Istanbul University, Istanbul
2005 “Molecular genetics of neuromuscular disorders”, 41 st National Congress of Neurology, Istanbul
“Skewed X-chromosome inactivation in scleroderma”, Hacettepe University, Ankara
2003 “Mosaicism and chimerism in genetic diseases”, Istanbul University, Istanbul
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2002 “Rett syndrome and related disorders”, Partners in Projects, FP6, Aalborg, Denmark
“Mosaicism and chimerism in genetic diseases”, Siena University Medical School, Siena, Italy
“Story of a genetic disease: Rett syndrome”, SUNY – Downstate Medical Center, NY NY, USA
“History of molecular biology”, Hacettepe University, Ankara
“Somatic mosaicism”, 6 th National Congress of Medical Genetics, Konya
“Genetic testing in neurological disorders”, 38 th National Congress of Neurology, Antalya
“Genetic basis of familial breast cancer”, 3 rd Natl. Congress of Clinical Biochemistry, Bursa
2001 “DNA analizi teknikleri”, MBG 2001 – Summer School, Bilkent University, Ankara
“Human genome project and its implications”, Bilkent University, Ankara
2000 “Hereditary breast and colon cancers”, Johan Béla National Center for Epidemiology, Budapest, Hungary
“Molecular biology for surgeons: Breast cancer”, Eurosurgery 2000, Istanbul
1999 “Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1”
The Cleveland Clinic Foundation, Lerner Research Institute, Cleveland, Ohio, USA
“Molecular basis of hereditary cancers in Turkey”, 11. KUKEM-Biyoteknoloji Kongresi, Isparta
“Molecular basis of breast cancer”, VI th Natl. Congress of Surgery, Istanbul
1998 “Rett Syndrome”, Chapman Institute of Medical Genetics, Tulsa, Oklahoma, USA
“MLH1 deficiency”, Bogazici University, Istanbul
“Molecular analysis of hematological malignancies”, XIII th Natl. Congress of Hematology, Ankara
“Medical databases”, Bioinformatics Course, TUBITAK, Gebze
1997 “Molecular biology and genetics at Bilkent University”,
Euro-Mediterranean Conference on Applications of Biotechnologies in Medicine; Naples, Italy
“Functional genomics in the post genome project era”, METU, Dept. of Chem. Eng., Ankara
“Human genome project”, Istanbul University, Cerrahpasa Medical School, Istanbul
“Human genome project”, Summer School 1997, Bilkent University, Ankara
“Molecular bases of hereditary breast and colon cancers”, Marmara University, Istanbul
“Risk analysis and genetic counseling in hereditary breast cancer”, Bayindir Hospital, Ankara
“Risk analysis in familial cancers”, GATA Military Medical Academy, Ankara
“DNA polymorphism in medicine”, Ankara University Medical School, Ankara
1996 “Genetics of colon cancer”, XIII th Natl. Gastroentorology Congress, Antalya
“Molecular genetics of breast cancer”, Breast Cancer Association, Izmir
“Factor V Leiden mutation and Behcet’s disease”, Natl. Medical Biology Congress, Izmir
“Molecular genetics of lipoprotein disorders”, II nd Nat. Metabolism Congres, Ankara
“Candidate gene approach to the identification of disease genes”, METU, Ankara
“Detection of chimerism with DNA polymorphisms”, Gazi University Medical School, Ankara
“Factor V Leiden mutation and Behcet's disease”, Hacettepe University Medical School, Ankara
1995 “Resistance a global view -How to prevent it?”,
XXII nd Congress of the Intl. Union Against Tuberculosis and Lung Disease, Istanbul
“Molecular diagnosis of neuromuscular disorders”, II nd Natl. Pediatric Neurology Days, Istanbul
“Methods to detect genes and gene products”, European Tumor Biology Course, Antalya
1994 “Molecular studies on trinucleotide repeat increase disorders in Turkey”,
II nd Eastern Mediterranean Workshop on Neurology & Neurogenetics, Cairo, Egypt
“Fragile-X syndrome”, II nd Natl. Medical Biology & Genetics Congress, Antalya
1993 “Freidreich's ataxia in Turkey”, Sofia University Medical School, Sofia, Bulgaria
“Congenital muscular dystrophy and muscle-eye-brain (MEB) disease”,
ENMC Workshop on Rare Neuromuscular Disorders, Baarns, Holland
“From bedside to bench molecular genetics”, I st meeting of Brain Res. Org.-Turkey, Istanbul
“Science in the 21st century: Molecular and genetic medicine”, Bilkent University, Ankara
“From bedside to bench molecular genetics”, Hacettepe University Medical School, Ankara
1992 “Molecular genetics of CMT type IA”, Mediterranean Neurogenetics Meeting, Limassol, Cyprus
“Neuromuscular disorders in Turkey”, European Rare Neuromuscular Disorders Consortium, Paris, France
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8. ARTISTIC & SCIENTIFIC EXHIBITS, PRESENTATIONS
2011 Miami 2011 Winter Symposium: Epigenetics in Development and Disease, which is organized by University
of Miami, Nature Group and Scripps Florida has selected “Chromatin Iznik chini by Tayfun Özçelik” as the
banner of the congress (http://www.nature.com/natureconferences/miami/MWS2011/index.html)
2009 Co-organizer of the exhibit “Darwin Now” British Council and Bilkent University, Bilkent, Ankara
2006 Co-curator of the exhibit “James D Watson: Journey to the World of DNA” Cold Spring Harbor
Laboratories and Bilkent University, Bilkent, Ankara
2007 Ozcelik T., “Fugitives of Destiny” Nature Genetics 39 (2): Cover art
2005 Ozcelik T., “LIFE” Nature Genetics 37 (11): Cover art
2005 Ozcelik T., “Chromatin” Nature Genetics 37 (4): Cover art
2003 Ozcelik T., “Half chromatid mutation” Nature Genetics 34 (4): Cover art
9. TEACHING
Graduate Courses:
Human Genet. (MBG 601, 1995-present)
Special Topics in Genetics I & II (MBG 612 & 613, 2002-2003)
Advances in Molecular Genetics (MBG 507, 1996-present)
Special Topics in Molecular Biology I & II (MBG 509 & 510, 2002-2003)
Medical Genetics (Istanbul University, 1993-1995)
Molecular Genetics (Istanbul University, 1993-1995)
Human Genetics (Bogazici University, 1995-1996)
Undergraduate Courses:
Introduction to Modern Biology (MBG 110, 2001-present)
Biology I & II (MBG 101 & 102, 1995-2000)
Genetic Engineering and Biotechnology (MBG 415, 2001-2002)
Introduction to Human Genetics (MBG 488, 2000-present)
10. GRADUATE SUPERVISION
PhD Bilkent University
Merve Gulsah Dal, “to be determined”, in progress
Fusun Doldur, “to be determined”, in progress
Chigdem Mustafa, “X-chromosome inactivation in pediatric diseases”, in progress
Emre Onat, “Molecular genetics studies on Rett syndrome”, in progress
Suleyman Gulsuner, “Identification of the molecular bases of quadrupedal locomotion”, in progress
Elif Uz, “X-chromosome inactivation & female predisposition to autoimmunity”, 2008
Cemaliye Akyerli, “Alfa-interferon signalling pathway in CML”, 2005
Gokce Toruner,“Identification of new genes in bladder cancer”, 2001
Hilal Ozdag, “Molecular bases of hereditary breast cancer in Turkey”, 2000
Istanbul University
Ali C. Hatemi, “Bazi kardiyovaskuler hastaliklarin molekuler genetik incelemesi”, 1994
Fahri Akbas, “Uçlu nukleotid artisina bagli norolojik hastaliklar”, 1996
Ugur Ozbek, “Noroblastom'da N-myc gen amplifikasyonu”, 1995
MSc Bilkent University
Melda Kantar, “X-inactivation in Sjogrens syndrome”, 2008
Safak Caglayan, “Genetic studies of quadrupedal walking in humans”, 2008
Chigdem Mustafa, “Extremely skewed X-inactivation in JIA”, 2007
Emre Onat, “Rett syndrome and X-linked gene expression”, 2006
Akin Sevinc, “RNASEL Arg462 Gly variant in breast cancer”, 2003
Ayca Sayi, “Analysis of MECP2 gene mutations in Turkish Rett syndrome patients”, 2001
Buket Yilmaz, “Establishment of rapid screening techniques for hematological malignancies”, 1998
Emre Oktem, “Establishment of a rapid mutation detection technique for screening of the BRCA1 and
BRCA2 genes”, 1997
Korkut Vata, “Development of a non-radioactive diagnostic test for the detection of microsatellite
instability in colon cancer”, 1997
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Istanbul University
Naci Cine, “Fenilketonurili hastalarin DNA analizi ile dogum oncesi tanisi”, 1996
Mehves Poda, “Spinal muskuler atrofilerin molekuler temelinin Turk toplumunda belirlenmesi”, 1995
Burcak Vural, “Bazi genomik lokuslarin allel ve genotip frekanslarinin Turk toplumunda belirlenmesi”,
1995
11. PATENTS
1992 Method for the diagnosis of Prader-Willi syndrome, USA patent no 08/161, 012
12. SCHOLARLY PUBLICATIONS
Specialty in Medical Genetics Dissertation
SYP1 ve SYP2 genlerinin kromozomal lokalizasyonlari, 8/1990, Advisor: Uta Francke, Stanford
University.
Chapters in books
1. A. B. Tekinay, T. Tekinay, H. T. Özçelik. “Nanobiyoteknoloji” in Moleküler Parazitoloji” (Edited by MA
Özcel, M. Tanyüksel, H. Eren), pp. 201-214, Türkiye Parazitoloji Derneği Yayın No:22, İzmir: Meta Basım
Matbaacılık, (2009) ISBN 978-975-94646-9-1.
2. Ozcelik T. “Molekuler Genetikte Temel Kavramlar” in OBSTETRİK: Maternal·Fetal Tip ve Perinatoloji
(Edited by MS Beksac, N. Demir, A. Koc). pp. 641-51, Ankara: Medical Network, (2001).
3. Huner G, Demirkol M, Cine N, Baykal T, Carbat G, Caliskan M, Aydinli N, Ozmen M, Seckin Y, Ozcelik
T. “The PAH Splicing Mutation IVS10nt546 in Late Diagnosed PKU Patients is Associated with
Hypsarrytmia”, “Diagnosis and Treatment of Inborn Errors of Metabolism: Contributions to an Equal
Opportunity for Children in Asia and Europe” M. Demirkol and Y.S. Shin .eds., 79-84, Published by the
Turkish Society for PKU. Istanbul Branch, (1996).
4. Ozcelik T, Cine N, Huner G, Baykal T, Sarbat G, Demirkol M. “Molecular Genetic Approaches to the
Diagnosis of Phenylketonuria in Istanbul”, “Diagnosis and Treatment of Inborn Errors of Metabolism:
Contributions to an Equal Opportunity for Children in Asia and Europe” M. Demirkol and Y.S. Shin.eds.,
73-78, Published by the Turkish Society for PKU. Istanbul Branch, (1996).
Reviews
1. Ozcelik T. “Farmakogenetik” Dokuz Eylul Tip Fak Der, (2001).
2. Ozcelik T. “Adli Amaçli DNA analizleri” Hacettepe Tip Derg 27(2): 50-5 (1996).
3. Ozcelik T. “DNA polimorfizminin Tip'da kullanimi” Hacettepe Tip Derg 27(1): 72-6 (1996).
4. Ozcelik T. “Noromuskuler hastaliklara neden olan genler ve tani testleri” Klinik Gelisim 8: 3728-42
(1995).
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Publications in refereed journals
Subject Area Page
I. Neurodevelopmental disorders 6
A. Unertan syndrome (quadrupedal locomotion in humans)
B. Rett syndrome
II. X-chromosome inactivation and female predisposition to autoimmunity 6
A. Scleroderma
B. Autoimmune thyroid diseases
C. Juvenile idiopathic arthritis
D. Preeclampsia
III. Cancer genetics 7
A. Hematological malignancies
B. Breast cancer
C. Colon cancer
D. Bladder cancer
IV. Gene mapping 8
A. Human gene mapping
B. Human/Mouse comparative mapping
C. Mouse gene mapping
V. Population genetics & others 9
V. Heart Physiology 10
(Articles considered most important are in boldface.)
Neurodevelopmental disorders
1. Ozçelik T, Kanaan M, Avraham KB, Yannoukakos D, Mégarbané A, Tadmouri GO, Middleton L,
Romeo G, King MC, Levy-Lahad E. “Collaborative genomics for human health and cooperation in
the Mediterranean region” Nat Genet. 42: 641-5 (2010).
2. Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, Bilguvar K,
DiLuna M, Yasuno K, Ozcelik T, Tuysuz B, State MW, Gunel M. “Novel VLDLR microdeletion identified
in two Turkish siblings with pachygyria and pontocerebellar atrophy” Neurogenetics 11: 319-25 (2010).
3. Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. “Reply to Herz et al. and
Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion” Proc Natl
Acad Sci U S A. 105: E32-3 (2008).
4. Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. “Mutations in the very
low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in
humans” Proc Natl Acad Sci U S A. 105: 4232-6 (2008).
5. Ozcelik T, “Uncovering the complex mysteries of mosaicism” [correspondence] Nature 417: 588 (2002).
6. Topcu M, Akyerli C, Sayi A, Toruner G, Kocoglu RS, Cimbis M, Ozcelik T. “Somatic mosaicism for
a MECP2 mutation associated with classic Rett syndrome in a boy” Eur J Hum Genet 10: 77-81
(2002).
7. Deymeer F, Serdaroglu P, Poda M, Gulsen-Parman Y, Ozcelik T, Ozdemir C. “Segmental distribution of
muscle weakness in SMAIII: implications for deterioration in muscle strength with time” Neuromusc
Disorders 7: 521-8 (1997).
8. Archidiacono N, Rocchi M, Anvret M, Ozcelik T, Francke U, and Romeo G. “Rett Syndrome: Exclusion
mapping on the X chromosome following the hypothesis of germinal mosaicism for new X-linked mutation
in the mother of two affected half-sisters” Hum Genet 86: 604-6 (1991).
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X-chromosome inactivation and female predisposition to autoimmunity
9. Uz E, Mustafa C, Topaloglu R, Bilginer Y, Dursun A, Kasapcopur O, Ozen S, Bakkaloglu A, Ozcelik T.
“Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis”
Arthritis Rheum 60: 3410-2 (2009).
10. Chabchoub G, Uz E, Maalej A, Mustafa CA, Rebai A, Mnif M, Bahloul Z, Farid NR, Ozcelik T, Ayadi H.
“Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune
thyroid diseases” Arthritis Res Ther 11: R106 (2009).
11. Plagnol V, Uz E, Wallace C, Stevens H, Clayton D, Ozcelik T, Todd JA. “Extreme clonality in
lymphoblastoid cell lines with implications for allele specific expression analyses” PLoS ONE 3: e2966
(2008).
12. Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA.
“Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense
mutation in the FRMD7 gene” Br J Ophthalmol 92: 135-41 (2008).
13. Ozcelik T. “X-chromosome inactivation and female predisposition to autoimmunity” Clin Rev Allergy
Immunol 34: 348-51 (2008).
14. Uz E, Loubiere LS, Gadi VK, Ozbalkan Z, Stewart JJ, Nelson JL, Ozcelik T. “Extremely skewed Xchromosome
inactivation in scleroderma” Clin Rev Allergy Immunol 34: 352-5 (2008).
15. Ozcelik T. “X-linked clonality testing and autoimmune diseases” [correspondence] Blood 110: 2769 (2007).
16. Uz E, Dolen I, Al AR, Ozcelik T. “Extremely skewed X-chromosome inactivation is increased in preeclampsia”
Hum Genet 121: 101-5 (2007).
17. Bagislar S, Ustuner I, Cengiz B, Soylemez F, Akyerli CB, Ceylaner S, Ceylaner G, Acar A, Ozcelik T.
“Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion”
Aust N Z J Obstet Gynaecol 46: 384-7 (2006).
18. Ozcelik T, Uz E, Akyerli CB, Bagislar S, Mustafa CA, Gursoy A, Akarsu N, Toruner G, Kamel N,
Gullu S. “Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female
predisposition to autoimmunity” Eur J Hum Genet 14: 791-7 (2006).
19. Ozbalkan Z, Bagislar S, Kiraz S, Akyerli CB, Ozer HT, Yavuz S, Birlik AM, Calguneri M, Ozcelik T.
“Skewed X chromosome inactivation in blood cells of women with scleroderma” Arthritis Rheum 52: 1564-
70 (2005).
20. Topaloglu R, Akyerli C, Bakkaloglu A, Aydintug O, Ozen S, Besbas N, Ozcelik T. “Survey of factor V
Leiden and prothrombin gene mutations in systemic lupus erythematosus” Clin Rheumatology 20: 259-61
(2001).
21. Gul A, Aslantas AB, Tekinay T, Konice M, Ozcelik T. “Procoagulant mutations and venous thrombosis in
Behcet’s disease” Rheumatology 38: 1298-9 (1999).
22. Gul A, Ozbek U, Ozturk C, Inanc M, Konice M, Ozcelik T. “Coagulation factor V gene mutation
increases the risk of venous thrombosis in Behcet's disease” Brit J Rheum 35:1178-80 (1996).
Cancer genetics
23. Hatirnaz O, Ure U, Ar C, Akyerli C, Soysal T, Ferhanoglu B, Ozcelik T, Ozbek U. “The SOCS-1 gene
methylation in chronic myeloid leukemia patients” Am J Hematol 82: 729-30 (2007).
24. Braunstein M, Ozcelik T, Bagislar S, Vakil V, Smith EL, Dai K, Akyerli CB, Batuman OA. “Endothelial
progenitor cells display clonal restriction in multiple myeloma” BMC Cancer 6: 161 (2006).
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25. Karahalil B, Kocabas NA, Ozcelik T. “DNA repair gene polymorphisms and bladder cancer susceptibility in
a Turkish population” Anticancer Res 26: 4955-8 (2006).
26. Onat OE, Tez M, Ozcelik T, Toruner GA. “MDM2 T309G polymorphism is associated with bladder
Cancer” Anticancer Res 26: 3473-5 (2006).
27. Zhang H, Vakil V, Braunstein M, Smith EL, Maroney J, Chen L, Dai K, Berenson JR, Hussain MM,
Klueppelberg U, Norin AJ, Akman HO, Ozcelik T, Batuman OA. “Circulating endothelial progenitor
cells in multiple myeloma: implications and significance” Blood 105: 3286-94 (2005).
28. Akyerli CB, Beksac M, Holko M, Frevel M, Dalva K, Ozbek U, Soydan E, Ozcan M, Ozet G, Ilhan O,
Gurman G, Akan H, Williams BRG, Ozcelik T. “Expression of IFITM1 in chronic myeloid leukemia
patients” Leuk Res 29: 283-6 (2005).
29. Sevinc A, Yannoukakos D, Konstantopoulou I, Manguoglu E, Luleci G, Colak T, Akyerli C, Colakoglu G,
Tez M, Sayek I, Gerassimos V, Nasioulas G, Papadopoulou E, Florentin L, Kontogianni E, Yulug IG,
Ozcelik T. “Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer”
Anticancer Res 24:2547-9 (2004).
30. Akyerli BC, Ozbek U, Aydin-Seyitoglu M, Sirma S, Ozcelik T. “Analysis of MYH Tyr382Asp variants in
childhood leukemias” J Cancer Res Clin Oncol 129: 604-5 (2003).
31. Tez M, Gocmen E, Ozcelik T. “HER2 overexpression and angiogenesis in breast cancer” [correspondence] The
Lancet 362: 1503 (2003).
32. Manguoglu EA, Luleci G, Ozcelik T, Colak T, Schayek H, Akaydi M, Friedman E. “Germline mutations in
BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients” Hum Mutat 21: 444-50 (2003).
33. Akgul H, Tez M, Unal AE, Keskek M, Sayek I, Ozcelik T. “Echinococcus against cancer: Why not?”
Cancer 98: 1998-9 (2003).
34. Sullivan A, Yuille M, Repellin C, Reddy A, Relfs O, Bell A, Dunne B, Gusterson BA, Osin P, Farrel PJ,
Yulug I, Ozcelik T, Evans A, Milena G and Crook T. “Concomitant inactivation of p53 and Chk2 in breast
cancer” Oncogene 21:1316-24 (2002).
35. Toruner GA, Ucar A, Tez M, Cetinkaya M, Ozen H, Ozcelik T. “p53 codon 72 polymorphism in bladder
cancer – no devidence of association with increased risk or invasiveness” Urol Res 29: 393-5 (2001).
36. Toruner GA, Akyerli C, Ucar A, Aki T, Atsu N, Ozen H, Tez M, Cetinkaya M, Ozcelik T, “Polymorphisms
of glutathione S-transferase genes (GSTM1, GSTP1 and GSTT1) and bladder cancer susceptibility” Arch
Toxicol 75: 459-64 (2001).
37. Beksac M, Ma M, Akyerli C, DerDanielian M, Zhang L, Liu J, Arat M, Erekul S, Konuk S, Koc H, Ozcelik
T, Vescio R, Berenson JR. “Frequent demonstration of human herpesvirus 8 (HHV-8) in bone marrow
samples from Turkish patients with multiple myeloma (MM)” Leukemia 15: 1268-73 (2001).
38. Ustun C, Arat M, Celebi H, Akan H, Ilhan O, Ozcelik T, Burgess RE, Koc H. “Extramedullary relapse
following allogeneic stem cell transplantation in acute propmyelocytic leukemia: the role of ATRA”
Haematologica 86: E31 (2001).
39. Mazoyer S, Ozcelik T et al. The BRCA1 Exon 13 Duplication Screening Group. “The exon 13 duplication in
the BRCA1 gene is a founder mutation present in geographically diverse populations” Am J Hum Genet 67:
207-12 (2000).
40. Ozdag H, Tez M, Sayek İ, Muslumanoglu M, Tarcan O, İcli F, Ozturk M, Ozcelik T. “Germ-line BRCA1
and BRCA2 gene mutations in Turkish breast cancer patients” Eur J Cancer 36: 2076-82 (2000).
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41. Ustun C, Arslan O, Beksac M, Koc H, Gurman G, Ozcelik T, Yilmaz B, Ilhan O, Akan H, Ozcan M,
Demirer T, Uysan A, Konuk N, Arat M, Dilek I, Celebi H, Coskun HS. “A retrospective comparison of
allogeneic peripheral blood stem cell and bone marrow transplantation results from a single center: a focus
on the incidence of graft-vs- host disease and relapse” Biol Blood Marrow Transplant 5: 28-35 (1999).
42. Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya
H, Tanyeli A, Erken E, Ozturk M. “Human MLH1 deficiency predisposes to hematological
malignancy and Neurofibromatosis type 1” Cancer Res 59: 290-3 (1999).
Gene mapping
43. Anders DA, Milatovich A, Ozcelik T, Wenzlau JM, Brown MS, Goldstein JL, Francke U. “cDNA cloning
of the two subunits of human CAAX Farnesyltransferase gene and mapping of FTNA and FTNB loci and
related sequences” Genomics 18: 105-12 (1993).
44. Ibraghimov-Beskrovnaya O, Milatovich A, Ozcelik T, Yang B, Koepnick K, Francke U, and Campbell K.
“Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and
chromosomal localization” Hum Molec Genet 2: 1651-7 (1993).
45. Lindgren V, Bryke CR, Ozcelik T, Yang-Feng TL, Francke U. “Reply to Rivera” Am J Hum Genet 53: 533-
4 (1993).
46. Davidson JJ, Ozcelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW. “cDNA cloning of a liver
isoform of the phosphorylase kinase a subunit and mapping of the gene to Xp22.2-p22.1, the region of the
human X-linked liver glycogenosis” Proc Natl Acad Sci, USA 89: 2096-2100 (1992).
47. Murphy PM, Ozcelik T, Kenney RT, Tiffany HL, McDermott D, and Francke U. “A structural homologue
of the N-formyl peptide receptor: Characterization and chromosome mapping of a peptide chemoattractant
receptor family” J Biol Chem 267: 7637-43 (1992).
48. Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL,
and Shooter EM. “Trembler mouse carries a point mutation in a myelin gene” Nature 356: 241-4
(1992).
49. Lindgren V, Bryke CR, Ozcelik T, Yang-Feng TL, and Francke U. “Phenotypic cytogenetic and molecular
studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial
adenomatous polyposis” Am J Hum Genet 50: 988-97 (1992).
50. Ozcelik T, Porteus MH, Rubenstein JLR, and Francke U. “DLX2 (TES1), a homeobox gene for the Distalless
family, assigned to conserved regions on human and mouse chromosome 2” Genomics 13: 1157-61
(1992).
51. Berkemeier LR, Ozcelik T, Francke U, and Rosenthal A. “Human chromosome 19 contains the
Neurothrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins” Somat
Cell and Molec Genet 18: 233-45 (1992).
52. Rupp F, Ozcelik T, Linial M, Peterson U, Francke U, and Scheller R. “Structure and chromosomal
localization of the mammalian agrin gene” J of Neurosci 12: 3535-44 (1992).
53. Ahuja SK, Ozcelik T, Milatovich A, Francke U and Murphy P. “Molecular evolution of the human
interleukin-8 receptor gene cluster” Nature Genet 2: 31-6 (1992).
54. Ozcelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, and Francke U. “Small
nuclear ribonucleoprotein N (SNRPN), an expressed gene in the Prader-Willi syndrome critical
region” Nature Genet 2: 265-9 (1992).
55. Leff SE, Brannan CI, Reed ML, Ozcelik T, Francke U, Copeland NG, Jenkins NA. “Maternal
imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi
syndrome region” Nature Genet 2: 259-64 (1992).
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56. Perin MS, Johnston PA, Ozcelik T, Jahn R, Francke U, and Sudhof TC. “Structural and functional
conservation of synaptotagmin (p65) in drosophila and humans” J Biol Chem 266: 615-22 (1991).
57. Ozcelik T, Rosenthal A, Francke U. “Chromosomal mapping of brain-derived neurotrophic factor and
neurotrophin-3 genes in man and mouse” Genomics 10: 569-75 (1991).
58. Ozcelik T, Suedhof TC, Francke, U. “Chromosomal assignments of genes for vacuolar (endomembrane)
proton pump subunits VPP1/Vpp-1(116 kDa) and VPP3/Vpp-3 (58 kDa) in human and mouse” Cytogenet
Cell Genet 58: 2008-9 (1991).
59. Ozcelik T, Suedhof TC, Francke U. “The genes for inositol1,4,5-triphosphate receptors 1 (ITPR1) and 3
(ITPR3) are localized on human chromosomes 3p and 6pter-p21, respectively” Cytogenet Cell Genet 58:
1880 (1991).
60. Ozcelik T, Murphy M, Francke U. “Chromosomal assignment of genes for formyl peptide receptor (FPR1),
a structural homolog of the formyl peptede receptor (FPRL1) and a low affinity interleukin-8 receptor
(IL8RA) in human” Cytogenet Cell Genet 58: 2023-4 (1991).
61. Ozcelik T, Lafreniere RG, Archer III BT, Johnston PA, Willard HF, Francke U, Sudhof TC.
“Synaptophysin: Structure of the human gene and assignment to the X chromosome in man and
mouse” Am J Hum Genet 47: 551-61 (1990).
62. Archer III BT, Ozcelik T, Jahn R, Francke U, Sudhof TC. “Structures and chromosomal localizations of
two human genes encoding synaptobrevins 1 and 2” J Biol Chem 265: 7267-73 (1990).
Population genetics & others
63. Skirton H, Lewis C, Kent A, Coviello DA, Bloch-Zupan A, Darpoux FC, Cornel M, DeLozier C, Farndon
P, Goetz P, Hodgson S, Houge G, Hulten M, Kosztolanyi G, Kucinskas V, Ozcelik T, Sequeiros J, Soller
M, Tranebjærg L. “Genetic education and the challenge of genomic medicine: development of core
competences to support preparation of health professionals in Europe” Eur J Hum Genet 18: 972-7 (2010).
64. Buyukderim-Ozcelik I, Ozcelik T. Science flourishes in a secular democracy. [correspondence] Nature 433:
355 (2005).
65. Vural B, Atlioglu E, Kolusayin O, Togan İ, Buyukdevrim S, Ozcelik T. “Turkish population data on the
HLA-Da, LDLR, GYPA, HBGG, D7S8, and GC loci” Int J Legal Med 111: 43-5 (1998).
66. Hatemi AC, Cine N, Ozcelik T. “Allele and genotype frequencies of the insertion/deletion polymorphism in
the human angiotensin converting enzyme in the Turkish population” Turkish J Med 27: 205-8 (1997).
67. Ozbek U, Vural B, Kalayoglu S, Soysal T, Bilgen H, Yavuz S, Anak S, Sargin D, Gedikoglu G, Ferhanoglu
B, Akoglu T, Tangun Y, Ozcelik T. “Evaluation of chimerism with DNA polymorphisms in the Turkish
population” Turkish J Ped 39: 303-12 (1997).
68. Atlioglu E, Canli MA, Ozturk M, Kolusayin O, Olgun A, Ozcelik T. “Turk populasyonunda alyuvar antijen
sistemlerinin gen frekanslari” Adli Tip Derg 10: 23-8 (1994).
Heart physiology
69. Becker BF, Reinholz N, Ozcelik T, Leipert B, Gerlach E. “Uric acid as radical scavenger and antioxidant in
the heart” Pflugers Arch 415: 127-35 (1989).
70. Karakullukcu YE, Ozcelik T, Gokhan N. “Changes of cyclic AMP and cyclic GMP levels during the
calcium paradox in the isolated rat heart” Pflugers Arch 410: 657-63 (1987).
71. Ozcelik T, Erbengi T, Gokhan N, Karakullukcu YE. “The influence of acetylcholine on the occurrence of
the ultrastructural changes of the calcium paradox in isolated rat heart” IRCS Med Sci 14: 996-7 (1986).
72. Ozcelik T, Karakullukcu YE, Unal, T, Gokhan N. “Positive inotropy seen following calcium-free,
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acetylcholine added perfusion in cardiac muscle of the rat” IRCS Med Sci 13: 128 (1985).
73. Unal T, Ozcelik T, Karakullukcu YE, Gokhan N. “Catecholamine independent positive inotropy in cardiac
muscle of the rat” Tip Fak Mecm 46: 513-8 (1983).
13. TOTAL NUMBER OF CITATIONS (LISTED IN CITATION INDEX) TO PUBLICATIONS
Citations by others: 2660 (from 1991 to 2010).
14. CURRENT RESEARCH INTERESTS
15. GRANTS
X-chromosome inactivation & female predisposition to autoimmunity
Identification of genes associated with human neurodevelopmental disorders
2008-2011 “Analysis of the influence of novel neurodevelopmental movement disorder mutations on the
functional and structural organization of the visual and motor systems”, TUBITAK, 300.000
USD, Co-investigator
2008-2010 “Identification of the genes responsible from Unertan syndrome characterized by quadrupedal
locomotion, cerebellar hypoplasia and mental retardation in humans”, TUBITAK, 240.000 USD,
Principal Investigator (PI)
2006-2009 “X-inactivation and autoimmune diseases”, TUBITAK , 300.000 USD / 2006-2009, PI
2005-2008 “Identification of the molecular mechanisms in Rett syndrome and related disorders”, ICGEB
50.000 USD, PI
2002-2005 “Molecular genetics studies in Rett syndrome ”, TUBITAK, 20.000 USD, PI
2002-2005 “Population genetics of BRCA1 and BRCA2 in Turkey and Greece”, TUBITAK, 8.000 USD, PI
1998-2001 “Analysis of bladder cancer susceptibility genes”, TUBITAK, 10.000 USD, PI
1994-1997 “Trinucleotide repeat disorders and Behcet’s disease”, TUBITAK, 10.000 USD, PI
1998-1999 “Analysis of BRCA1 & BRCA2 mutations in breast cancer – 97-320 RG/BIO/AS”, TWAS,
10.000 USD, Co-investigator
1995-1998 “Molecular genetic analysis of breast and colon cancers – TTGV 172”, TTGV and Bilkent
Holding, 1.500.000 USD, Co-investigator
1994-1995 “DNA based individual identification”, Istanbul University Research Fund, 2.000 USD, Advisor
1994-1995 “Molecular genetics of SMA”, Istanbul University Research Fund, 2.000 USD, Advisor
1992-1994 “DNA based diagnosis of genetic diseases”, WHO & UNDP, 500.000 USD, Co-investigator
16. EDUCATIONAL DEVELOPMENT ACTIVITIES
1995- Development and revision of the undergraduate and graduate curriculum
1995- Training of Undergraduate Students and Supervision of Senior/Term Projects including:
Ayse Begum Aslantas (1998-1999); “Prothrombotic mutations & Behcet’s disease”
Turgay Tekinay (1998-1999); “Vitamin D receptor polymorphism in osteoporosis”
Rifat Suha Kocoglu (2000-2001); “MECP2 mutations in male RTT patients”
Ali Haydar Cetin (2001-2002); “Genotype – phenotype correlation in Rett syndrome”
Onur Cizmecioglu (2001-2002); “Population genetics studies in breast cancer”
Doruk Golcu (2002-2003); “X-inactivation in multiple myeloma”
Ismail Ismailoglu (2002-2004); “X-inactivation in breast cancer”
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Aslihan Ors (2004-2005); “Genetic predisposition to hernia”
Chigdem Mustafa (2004-2005) “X-inactivation and autoimmune thyroiditis”
Melda Kantar (2005-2006) “Rett syndrome”
Vural Tagal (2005-2007) “Rett syndrome”
Omer Copur (2006-2007) “Allele specific RNA interference in mammals”
Mert Icyuz (2006-2007) “Bioinformatics approaches to human genome analysis”
17. CONTRIBUTION TO BILKENT UNIVERSITY
2008- Chair of the Dept. of Molecular Biology and Genetics, Bilkent University
2006-2009 Member of the Rector’s committee on academic freedom
1998-2000 Deputy Chair of BilGen, Bilkent University
1995-1999 Deputy Chair of the Dept. of Molecular Biology and Genetics, Bilkent University
1995- Organisation of promotional activities for the Department among high school students
18. CONTRIBUTION TO SOCIETY AT LARGE
2008- Scientific review committees: European Research Council, European Union-FP7-Health,
Qatar National Research Fund, Roche-Turkey Science Award
1993- Scientific review committees: TUBITAK (Scientific and Technological Research Council of
Turkey), TUBA (Turkish Academy of Sciences), Mustafa Parlar Foundation, and the research
funds of Istanbul, Hacettepe, Ankara, Akdeniz Universities
1993- Peer review of papers for journals including Nature Reviews Immunology, American Journal of
Human Genetics, European Journal of Human Genetics, Human Genetics, Arthritis &
Rheumatism, Gastroenterology, Thrombosis Research, PloS ONE, Pediatrics, Molecular Biology
Reports, Journal of Neuroscience and Behavioral Health
2006- Scientific organisation committee member of the following congresses:
Mediterranean Medical Genetics Meeting 2009, 2011
VIIIth National Medical Genetics Congress
VIIth National Medical Genetics Congress
1993-1995 Introduction of DNA-based individual identification in Turkey, in collaboration with Ministry of
Justice and Council for Forensic Medicine
1993-1995 Establishment of DNA-based diagnosis of genetic disorders
12