2. academic degrees - Bilkent University - Faculty of Science

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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