Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.

Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. Eur J Med Genet. 2020 Mar;63(3):103767. doi: 10.1016/j.ejmg.2019.103767. Epub 2019 Sep 16.

Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. Rare Diseases in Africa and the Protea Declaration – collaborative approaches for the unmet needs and potential benefits for Africa. Nat Genet. 2020 Jan;52(1):21-26. doi: 10.1038/s41588-019-0552-2.

Danique van Vliet, Annemiek M.J. van Wegberg , Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley Francjan J. van Spronsen. Untreated PKU Patients without Intellectual Disability: What Do They Teach Us? Nutrients 2019, 11, 2572; doi:10.3390/nu11112572

Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. Gene. 2019 Jun 30;703:17-25. doi: 10.1016/j.gene.2019.04.002.

Klaassen K, Djordjevic M, Skakic A, Desviat LR, Pavlovic S, Perez B, Stojiljkovic M. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model. Biochem Genet. 2018 Oct;56(5):533-541. doi: 10.1007/s10528-018-9858-5. Epub 2018 Apr 13.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet J Rare Dis. 2018 Aug 29;13(1):149.

Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants. Clin Genet. 2018 Feb;93(2):350-355. doi: 10.1111/cge.13093.

Spasovski D, Spasovski V, Baščarević Z, Stojiljković M, Vreća M, Anđelković M, Pavlović S. Intra-articular injection of autologous adipose-derived mesenchymal stem cells in the treatment of knee osteoarthritis. J Gene Med. 2018 Jan;20(1). doi: 10.1002/jgm.3002. Epub 2018 Jan 22.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP. Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

Viennas E, Komianou A, Mizzi C, Stojiljkovic M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukic B, Katsila T, van der Spek PJ, Pavlovic S, Tzimas G, Patrinos GP. Expanded national database collection and data coverage in the FINDbase database worldwide database for clinically relevant genomic variation allele frequencies. NAR 2017;45(D1):D846-D853..

Klaassen K, Stankovic B, Kotur N, Djordjevic M, Zukic B, Nikcevic G, Ugrin M, Spasovski V, Srzentic S, Pavlovic S, Stojiljkovic M. New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro. J Appl Genet 2017 Feb;58(1):79-85.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. Clin Genet. 2016; 90(3): 252-7.

Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. Orphanet J Rare Dis. 2015; 10: 68.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Kecman B, Ugrin M, Zukic B, Desviat LR, Pavlovic S, Perez B. Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. J Pediatr Endocrinol Metab. J Pediatr Endocrinol Metab. 2015; 28(3-4): 477-80.

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

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. https://www.ncbi.nlm.nih.gov/pubmed/21423179

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. https://www.ncbi.nlm.nih.gov/pubmed/20599406

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. https://www.ncbi.nlm.nih.gov/pubmed/19629656

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. https://www.ncbi.nlm.nih.gov/pubmed/16879198

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