Maja Stojiljković

Senior Research Associate
Laboratory for Molecular Biomedicine

Institute of Molecular Genetics and Genetic Engineering (IMGGE),
University of Belgrade

V. Stepe 444a, P.Fah 23, 11010 Belgrade, Serbia
Mobile:           +381 64 397 64 45                          
Phone:           +381 11 397 64 45
Fax:               +381 11 397 58 08


2009 - PhD in Molecular Biology, Faculty of Biology (FB), UB (Polymorphisms in phenylalanine hydroxylase gene as gene expression regulators, phenotype modulators and population genetic markers)
2004 - B.Sc. in Molecular Biology, FB, University of Belgrade


2015 - Senior Research Associate, IMGGE, UB
2010 - 2015 -
Research Associate, IMGGE, UB
2007 - 2010 - Research Assistant, IMGGE, UB
2006 - 2007 - Research Trainee, IMGGE, UB


2014 - Board member of ICORD-a (International Conference on Rare Disease and Orphan Drugs,
2013 - Leader of WP „Dissemination and promotion“ in „Strengthening the Research Potential of IMGGE through Reinforcement of Biomedical Science of Rare Diseases in Serbia – en route for innovation, SERBORDISinn project“ (EU-FP7-REGPOT, 316088, 2013-2016)
2012 - 2013 - Leader of of the Serbian Team in “Molecular basis of organic acidurias in Serbia and application of new therapeutic strategies based on genotype” collaboration project (451-03-02635/2011-14/14, 2012-2013)
2011 - Leader of WP in “Rare Diseases: Molecular Pathophysiology, Diagnostic and Therapeutic Modalities and Social, Ethical and Legal Aspects”  (MPNTR, III 41004, 2011-2014)
2010 - Assistant Head of Laboratory for Molecular Biomedicine
2010 - Lecturer at PhD studies program at UB
2010 - Assistant Coordinator of Serbian ORPHANET team (
2010 - Member of Expert Committee of Serbian umbrella patient organization (NORBS,


Dedicated to fundamental and applied biomedical research with a focus on rare diseases. Conducted pioneer studies on molecular-genetic basis of several rare diseases in Serbian population (phenylketonuria, tetrahydrobiopterin dificiencies, organic acidurias, thalassemia, congenital adrenal hyperplasia etc.), which enabled genetic diagnostics of these diseases in the country. Performs functional studies of novel genetic variants (transcriptional studies, protein activity studies) in order to understand the impact of the variant on the rare disease phenotype, to elucidate genotype-phenotype correlation and to assess genotype-base prediction of drug efficacy (e.g. responsiveness of phenylketonuria patients to drug KUVAN).


Stojiljkovic M, Klaassen K, Pavlovic S. Molecular characteristics, phenotypic diversity and genotype-estimated therapeutic responsiveness of Serbian patients with phenylketonuria. J Med Biochem 2014; 33: 97-107. Review article

Pavlovic S, Zukic B, Stojiljkovic M.  Molecular genetic markers as a basis for personalized medicine. J Med Biochem 2014; 33: 8-21. Review article

Klaassen K, Djordjevic M, Stojiljkovic M, Pavlovic S. Association of mitochondrial DNA variants and cognitive impairment of PKU patients. J Med Biochem 32: 337–343, 2013.

Tafrali C, Paizi A, Borg J, Radmilovic M, Bartsakoulia M, Giannopoulou E, Giannakopoulou O, Stojiljkovic M, Zukic B, Poulas K, Stavrou EF, Lambropoulou P, Kourakli A, Felice AE, Papachatzopoulou A, Philipsen S, Pavlovic S, Georgitsi M, Patrinos GP. Genomic variations in the MAP3K5 gene is associated with beta-thalassemia disease severity and hydroxyurea treatment efficacy. Pharmacogenomics 2013; 14(5): 469-83.

Radmilovic M, Zukic B, Stojiljkovic M, Bartsakoulia M, Stankovic B, Kotur N, Dokmanovic L, Georgitsi M, Patrinos G, Pavlovic S. Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin. Annals of Hematology 2013; 92(1): 53-8.

Spasovski V, Tosic N, Nikcevic G, Stojiljkovic M, Zukic B, Radmilovic M, Karan – Djurasevic T, Srzentic S, Colovic M, Pavlovic S. The influence of novel transcriptional regulatory element in intron 14 on expression of Janus kinase 2 gene in myeloproliferative neoplasms. J Appl Genet 2013; 54(1): 21-6.

Djordjevic M, Klaassen K, Sarajlija A, Tosic N, Zukic B, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Molecular genetics and genotype based estimation of BH4-responsiveness in Serbian PKU patients: spotlight on phenotypic implications of p.L48S. J Inherit Metab Dis Reports 2013; 9: 49-58. doi: 10.1007/8904_2012_178.

Kotur N, Stankovic B, Kassela K, Georgitsi M, Vicha A, Dokmanovic L, Janic D, Krstovski N, Klaassen K, Radmilovic M, Stojiljkovic M, Nikcevic G, Simeonidis A, Sivolapenko G, Pavlovic S, Patrinos GP, Zukic B. Six-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner. Pharmacogenomics 2012: 13(3):283-95.

Stojiljkovic M, Fazlagic A, Krivokapic-Dokmanovic L, Nikcevic G, Patrinos GP, Pavlovic S, Zukic B. 6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy. Hum Genomics. 2012; 6(1): 19.

Stojiljkovic M, Patrinos G, Pavlovic S. Clinical Applicability of Sequence Variations in Genes Related to Drug Metabolism. Curr Drug Metab 2011: 12 (5): 445-454.

Giardine B, Borg J, Higgs D, Peterson K, Philipsen S, Maglott D, Singleton B, Anstee D, Basak AN, Clark B, Costa F, Faustino P, Fedosyuk H, Felice A, Francina A, Galanello R, Gallivan M, Georgitsi M, Gibbons R, Giordano P, Harteveld C, Hoyer J, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis M, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye J, Wiemann C, Zukic B, Chui D, Wajcman H, Hardison R, Patrinos P. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet 2011: 43(4): 295-301.

Stojiljkovic M, Zukic B, Tosic N, Karan Djurasevic T, Spasovski V, Nikcevic G, Pavlovic S. Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8. Mol Genet Metab 2010: 101: 81-83.

Zukic B, Radmilovic M, Stojiljkovic M, Tosic N, Pourfarzad F, Dokmanovic L, Janic D, Colovic N, Philipsen S, Patrinos G, Pavlovic S. Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics 2010: 11: 547-557.

Radmilovic M, Zukic B, Stankovic B, Karan-Djurasevic T, Stojiljkovic M, Spasovski V, Tosic N, Dokmanovic L, Janic D, Pavlovic S. Thalassemia Syndromes in Serbia: An update. Hemoglobin 2010: 34 (5): 477-85.

Pavlovic S, Stojiljkovic M. Molecular Diagnosis of Phenylketonuria: From Defective Protein to Disease-Causing Gene Mutation. J Med Biochem 2009: 28 (4): 262-287.

Tosic N, Stojiljkovic M, Colovic N, Colovic M, Pavlovic S. Acute Myeloid Leukemia with NUP98-HOXC13 Fusion and FLT3-ITD Mutation: Case Report and Review of the Literature. Cancer Genet Cytogenet 2009: 193 (2): 98-103.

Stojiljkovic M, Perez B, Desviat LR, Aguado C, Ugarte M, Pavlovic S. The Missense p.S231F Phenylalanine Hydroxylase Gene Mutation Causes Complete Loss of Enzymatic Activity In Vitro. Protein J: 2009 28: 294.

Stojiljkovic M, Stevanovic A, Djordjevic M, Petrucev B, Tosic N, Karan Djurasevic T, Aveic S, Radmilovic M, Pavlović S. Mutations in the PAH gene: a tool for population genetic study. Arch Biol Sci 2007: 59 (3): 161-167.

Stojiljkovic M, Jovanovic J, Djordjevic M, Grkovic S, Cvorkov Drazic M, Petrucev B, Tosic N, Karan Djurasevic T, Stojanov Lj, Pavlovic S. Molecular and phenotypic characteristics of phenylketonuria patients in Serbia and Montenegro. Clin Genet 2006: 70: 151-155.

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