About us

A Szentágothai János Kutatóközpont a PTE korszerű, nemzetközi tudományszervezési és menedzsment normák szerint kialakított új intézménye, amely az élettudományi, élettelen természettudományi, valamint környezettudományi oktatás...



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Clinical Genetics and Genomics Research Group

  • Research concept
  • Members
  • Publications
  • Awarded projects
  • R and D results
  • Services
  • Laboratories, instruments
  • Galéria

As a precursor of personalized medicine (P4 medicine) the research of pharmacogenetically relevant genes, and the practical implementation of the results is one of the most important elements of drug choice based on genetic variability. Within the SB project we hope to provide a background for pharmacology, drug research and drug development projects, but at the same time would like to be present with our own research field. The research of the pharmacogenomic group isn’t limited solely to enzymes and carriers associated with metabolism, but also plans on including all aspects of genetics behind drug side effects, the optimization of drug dosage. The ethnical differences behind drug effects are well-known and the optimal dosages varies according to the given population. It is well known that the Roma can be found all over the world, but their genetic profile is less known. The Roma differ from the populations where they live due to their different origin. There is considerable evidence which suggests that the Roma originate from India, thus they have a different genetic structure then the Caucasian population. Currently, the majority of research concentrates on SNP-based variations, however we can assume that in this area, more variations in relation to copy number variations with pharmacogenetic relevance are to be expected, this is also part of our future plans.

Background research of rare genetically strongly determined diseases with the help of new molecular genetic technology (next generation sequencing, array CGH). Our department plays a critical role in the research of Rare Diseases in our country. During our research we look for mutations, genotype-phenotype variants, which cause certain diseases and help us with a definite diagnosis; hopefully within the SB project more emphasis will be placed on the gene mutation-phenotype axis. Also part of the package is the research of mitochondrial DNA related diseases. These diseases are most commonly inherited metabolic diseases, which most often affect the muscular, cardiac and central nervous system. Examining the differences within the mitochondrial DNA help significantly in determining the cause of the disease.

As the coordinating department of the National Biobank Network, we have a serious Biobank collection of diseases affecting large populations. In this context diseases which appear rare, but are actually common diseases (stroke, heart attack, metabolic syndrome, etc) and show a Mendelian inheritance pattern, exhibit strong research potential: with the help of this it is possible to search for new genes, which could greatly contribute to the understanding of the disease.

Dr. Hadzsiev Kinga
associate professor
Prof. Dr. György Kosztolányi

Dr. Márta Czakó
assistant professor

Dr. Judit Berenténé Dr. Bene
associate professor
Dr. Ágnes Till
assistant lecturer
Dr. Anita Maász
assistant lecturer
Dr. Judith Zima
Dr. Sümegi Katalin
assistant lecturer
Zsolt Bánfai
Dr. András Szabó
assistant professor
Dr. Réka Ripszám
Dr. Szalai Renáta
assistant lecturer
Gergely Büki
PhD student
Gyöngyi Halmai
Ilona Újváryné Bátai
laboratory assistant
Katalin Gulyás
laboratory assistant

Edit Papp
laboratory assistant


  1. Ádám V, Bánfai Z, Maász A, Sümegi K, Miseta A, Melegh B. Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania [published online ahead of print, 2020 Jul 11]. J Hum Genet. 2020;10.1038/s10038-020-0799-6. doi:10.1038/s10038-020-0799-6

  2. Wilke C, Haas E, Reetz K, et al. Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. EMBO Mol Med. 2020;12(7):e11803. doi:10.15252/emmm.201911803

  3. Bene J, Szabo A, Komlósi K, Melegh B. Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis. Curr Mol Med. 2020;20(5):336-354. doi:10.2174/1566524019666191113120828

  4. Szalai R, Melegh BI, Till A, et al. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. Exp Mol Pathol. 2020;115:104471. doi:10.1016/j.yexmp.2020.104471

  5. Zima J, Eaton A, Pál E, et al. Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. Eur J Med Genet. 2020;63(2):103655. doi:10.1016/j.ejmg.2019.04.012

  6. Taruscio D, Baynam G, Cederroth H, et al. The Undiagnosed Diseases Network International: Five years and more!. Mol Genet Metab. 2020;129(4):243-254. doi:10.1016/j.ymgme.2020.01.004

  7. Till Á, Zima J, Fekete A, et al. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. Seizure. 2020;74:8-13. doi:10.1016/j.seizure.2019.10.019


  1. Matyas P, Postyeni E, Komlosi K, et al. Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations. Pathol Oncol Res. 2019;25(4):1349-1355. doi:10.1007/s12253-018-0388-6

  2. Diallo A, Jacobi H, Cook A, et al. Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia. Mov Disord. 2019;34(8):1220-1227. doi:10.1002/mds.27739

  3. Pál E, Zima J, Hadzsiev K, et al. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. Eur J Med Genet. 2019;62(7):103662. doi:10.1016/j.ejmg.2019.05.001

  4. Schrauwen I, Melegh BI, Chakchouk I, et al. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019;27(6):869-878. doi:10.1038/s41431-019-0372-y

  5. Olasz, J., Seidenberg, V., Hummel, S. et al. DNA profiling of Hungarian King Béla III and other skeletal remains originating from the Royal Basilica of Székesfehérvár. Archaeol Anthropol Sci 11, 1345–1357 (2019). https://doi.org/10.1007/s12520-018-0609-7

  6. Czakó M, Till Á, Szabó A, Ripszám R, Melegh B, Hadzsiev K. Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients. Int J Mol Sci. 2019;20(19):4935. Published 2019 Oct 5. doi:10.3390/ijms20194935

  7. Bánfai Z, Melegh BI, Sümegi K, et al. Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area. Front Genet. 2019;10:558. Published 2019 Jun 13. doi:10.3389/fgene.2019.00558

  8. Düh A, Till Á, Bánfai Z, Hegyi M, Melegh B, Hadzsiev K. Súlyos epilepsziás encephalopathia hátterében azonosított MECP2-gén-mutáció fiúbetegben [MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy]. Orv Hetil. 2019;160(51):2036-2039. doi:10.1556/650.2019.31520

  9. Till Á, Szalai R, Hegyi M, et al. Generalizált epilepszia hátterében azonosított ioncsatorna-génmutáció ritka formája [A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy]. Orv Hetil. 2019;160(21):835-838. doi:10.1556/650.2019.31404


  1. Bánfai Z, Ádám V, Pöstyéni E, et al. Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data. PLoS One. 2018;13(9):e0202890. Published 2018 Sep 10. doi:10.1371/journal.pone.0202890

  2. Jacobi H, du Montcel ST, Bauer P, et al. Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. J Neurol. 2018;265(9):2040-2051. doi:10.1007/s00415-018-8954-0

  3. Sirchia F, Carrieri D, Dheensa S, et al. Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. Eur J Hum Genet. 2018;26(7):946-954. doi:10.1038/s41431-018-0131-5

  4. Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. Cell. 2018;173(7):1705-1715.e16. doi:10.1016/j.cell.2018.05.046

  5. Diallo A, Jacobi H, Cook A, et al. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. Lancet Neurol. 2018;17(4):327-334. doi:10.1016/S1474-4422(18)30042-5

  6. Bene J, Hadzsiev K, Melegh B. Role of carnitine and its derivatives in the development and management of type 2 diabetes. Nutr Diabetes. 2018;8(1):8. Published 2018 Mar 7. doi:10.1038/s41387-018-0017-1

  7. Szabó A, Czakó M, Hadzsiev K, et al. Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene. Am J Med Genet A. 2018;176(2):443-449. doi:10.1002/ajmg.a.38566


  1. Bánfai Z, Hadzsiev K, Pál E, et al. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report [published correction appears in BMC Med Genet. 2017 Dec 16;18(1):150]. BMC Med Genet. 2017;18(1):105. Published 2017 Sep 19. doi:10.1186/s12881-017-0463-y

  2. Melegh BI, Banfai Z, Hadzsiev K, Miseta A, Melegh B. Refining the South Asian Origin of the Romani people. BMC Genet. 2017;18(1):82. Published 2017 Aug 31. doi:10.1186/s12863-017-0547-x

  3. Lipson M, Szécsényi-Nagy A, Mallick S, et al. Parallel palaeogenomic transects reveal complex genetic history of early European farmers. Nature. 2017;551(7680):368-372. doi:10.1038/nature24476

  4. Sumegi K, Duga B, Melegh BI, et al. Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples. Pathol Oncol Res. 2017;23(4):853-861. doi:10.1007/s12253-017-0197-3

  5. Diallo A, Jacobi H, Schmitz-Hübsch T, et al. Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression. Mov Disord Clin Pract. 2017;4(5):689-697. Published 2017 Aug 11. doi:10.1002/mdc3.12522

  6. Fekete A, Hadzsiev K, Bene J, et al. Két generációban megfigyelhető mitokondriális DNS A8344G mutáció [A8344G mitochondrial DNA mutation observed in two generations]. Orv Hetil. 2017;158(12):468-471. doi:10.1556/650.2017.30634

  7. Fischer S, Kövesdi E, Magyari L, et al. IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis. World J Gastroenterol. 2017;23(3):447-454. doi:10.3748/wjg.v23.i3.447

  8. Hadzsiev K, Szőts M, Fekete A, et al. Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással [Neuroacanthocytosis diagnosis with new generation whole exome sequencing]. Orv Hetil. 2017;158(42):1681-1684. doi:10.1556/650.2017.30880

  9. Sebők Á, Pál E, Molnár GA, et al. Rhabdomyolysis – Mikor vessük fel metabolikus myopathia lehetőségét? Esetismertetés és diagnosztikus algoritmus [Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm]. Orv Hetil. 2017;158(47):1873-1882. doi:10.1556/650.2017.30923

  10. Hadzsiev K, Szőts M, Fekete A, et al. Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással [Neuroacanthocytosis diagnosis with new generation whole exome sequencing]. Orv Hetil. 2017;158(42):1681-1684. doi:10.1556/650.2017.30880

  11. Kövesdi E, Bene J, Nagy N, Horváth Á, Melegh B, Hadzsiev K. A nagyobb méretű géndeletiók jelentősége a sclerosis tuberosa diagnosztikájában: az első magyar esetek bemutatása [Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases]. Orv Hetil. 2017;158(30):1188-1194. doi:10.1556/650.2017.30789


  1. Hadzsiev K, Komlosi K, Czako M, et al. Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. Mol Cytogenet. 2016;9:22. Published 2016 Feb 25. doi:10.1186/s13039-016-0231-2

  2. Szalai R, Hadzsiev K, Melegh B. Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature. Curr Med Chem. 2016;23(31):3632-3652. doi:10.2174/0929867323666160809092455

  3. Mehta D, Tropf FC, Gratten J, et al. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. JAMA Psychiatry. 2016;73(5):497-505. doi:10.1001/jamapsychiatry.2016.0129




  1. Weber A, Szalai R, Sipeky C, Magyari L, Melegh M, Jaromi L, Matyas P, Duga B, Kovesdi E, Hadzsiev K, Melegh B.Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples. Pharmacol Rep. 2015 Jun;67(3):460-4. doi: 10.1016/j.pharep.2014.11.006. Epub 2014 Nov 27.

  2. Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D.MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin. PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.

  3. Komlósi K, Duga B, Hadzsiev K, Czakó M, Kosztolányi G, Fogarasi A, Melegh B.Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome. Mol Cytogenet. 2015 Mar 3;8:16. doi: 10.1186/s13039-015-0118-7. eCollection 2015.

  4. Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Patterson N, Daly MJ, Price AL, Neale BM. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015 Mar;47(3):291-5. doi: 10.1038/ng.3211. Epub 2015 Feb 2.

  5. Hadzsiev K, Balikó L, Komlósi K, Lőcsei-Fekete A, Csábi G, Bene J, Kisfali P, Melegh B. [Genetic testing in hereditary spastic paraplegia].Orv Hetil. 2015 Jan 18;156(3):113-7. doi: 10.1556/OH.2015.30014. Hungarian.

  6. Sumegi K, Jaromi L, Magyari L, Kovesdi E, Duga B, Szalai R, Maasz A, Matyas P, Janicsek I, Melegh B. Functional Variants of Lipid Level Modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 Genes in Healthy Roma and Hungarian Populations. Pathol Oncol Res. 2015 Jan 9. [Epub ahead of print]



  1. Hadzsiev K, Dávid D, Szabó G, Czakó M, Melegh B, Kosztolányi G. Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype. Cytogenet Genome Res. 2014;144(3):190-5. doi: 10.1159/000369653. Epub 2014 Dec 20.

  2. Szalai R, Magyari L, Matyas P, Duga B, Banfai Z, Szabo A, Kovesdi E, Melegh B Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples. Environ Toxicol Pharmacol. 2014 Nov;38(3):814-20. doi: 10.1016/j.etap.2014.09.012. Epub 2014 Sep 28.

  3. Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium, Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium.Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014 Nov 6;95(5):535-52. doi: 10.1016/j.ajhg.2014.10.004. Epub 2014 Nov 6.

  4. Janicsek I, Sipeky C, Bene J, Duga B, Melegh B, Sümegi K, Jaromi L, Magyari L, Melegh B. Significant interethnic differencies in functional variants of PON1 and P2RY12 genes in Roma and Hungarian population samples. Mol Biol Rep. 2015 Jan;42(1):227-32. doi: 10.1007/s11033-014-3762-9. Epub 2014 Oct 9.

  5. Duga B, Czakó M, Komlósi K, Hadzsiev K, Sümegi K, Kisfali P, Melegh M, Melegh B. [Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report]. Orv Hetil. 2014 Oct 5;155(40):1598-601. doi: 10.1556/OH.2014.30006. Hungarian.

  6. Magyari L, Kovesdi E, Sarlos P, Javorhazy A, Sumegi K, Melegh B. Interleukin and interleukin receptor gene polymorphisms in inflammatory bowel diseases susceptibility. World J Gastroenterol. 2014 Mar 28;20(12):3208-22.

  7. Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Peter H. Sudmant, Joshua G. Schraiber, Sergi Castellano, Karola Kirsanow, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten Bos, Susanne Nordenfelt, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, George Ayodo, Hamza A. Babiker, Elena Balanovska, Oleg Balanovsky, Haim Ben-Ami, Judit Bene, Fouad Berrada, Francesca Brisighelli, George B.J. Busby, Francesco Cali, Mikhail Churnosov, David E.C. Cole, Larissa Damba, Dominique Delsate, George van Driem, Stanislav Dryomov, Sardana A. Fedorova, Michael Francken, Irene Gallego Romero, Marina Gubina, Jean-Michel Guinet, Michael Hammer, Brenna Henn, Tor Helvig, Ugur Hodoglugil, Aashish R. Jha, Rick Kittles, Elza Khusnutdinova, Toomas Kivisild, Vaidutis Kučinskas, Rita Khusainova, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Robert W. Mahley, Béla Melegh, Ene Metspalu, Joanna Mountain, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga L. Posukh, Valentino Romano, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antonio Salas, Elena B. Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, Mikhail Voevoda, Joachim Wahl, Pierre Zalloua, Levon Yepiskoposyan, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G. Thomas, Sarah A. Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan E. Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David Reich, Johannes Krause: Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature 513,409-413 (18 September 2014) doi: 10.1038/nature13673

  8. Sarlos P, Kovesdi E, Magyari L, Banfai Z, SzaboA, Javorhazy A, Melegh B: Genetic update on inflammatory factors in ulcerative colitis: Review of the current literature. World J Gastrointest Pathophysiol. 2014 Aug 15;5(3):304-21. doi: 10.4291/wjgp.v5.i3.304. Review.

  9. Szalai R, Matyas P, Varszegi D, Melegh M, Magyari L, Jaromi L, Sumegi K, Duga B, Kovesdi E, Hadzsiev K, Melegh B: Admixture of beneficial and unfavourable variants of GLCCI1 and FCER2 in Roma samples can implicate different clinical response to corticosteroids. Mol Biol Rep. 2014 Aug 5.

  10. Schizophrenia Working Group of the Psychiatric Genomics Consortium (Ripke SNeale BMCorvin AWalters JTFarh KHHolmans PALee PBulik-Sullivan BCollier DAHuang HPers THAgartz IAgerbo EAlbus MAlexander MAmin FBacanu SABegemann MBelliveau RA JrBene JBergen SEBevilacqua EBigdeli TBBlack DWBruggeman RBuccola NGBuckner RLByerley WCahn WCai GCampion DCantor RMCarr VJCarrera NCatts SVChambert KDChan RCChen RYChen EYCheng WCheung EFChong SACloninger CRCohen DCohen NCormican PCraddock NCrowley JJCurtis DDavidson MDavis KLDegenhardt FDel Favero JDemontis DDikeos DDinan TDjurovic SDonohoe GDrapeau EDuan JDudbridge FDurmishi NEichhammer PEriksson JEscott-Price VEssioux LFanous AHFarrell MSFrank JFranke LFreedman RFreimer NBFriedl MFriedman JIFromer MGenovese GGeorgieva LGiegling IGiusti-Rodríguez PGodard SGoldstein JIGolimbet VGopal SGratten Jde Haan LHammer CHamshere MLHansen MHansen THaroutunian VHartmann AMHenskens FAHerms SHirschhorn JNHoffmann PHofman AHollegaard MVHougaard DMIkeda MJoa IJulià AKahn RSKalaydjieva LKarachanak-Yankova SKarjalainen JKavanagh DKeller MCKennedy JLKhrunin AKim YKlovins JKnowles JAKonte BKucinskas VAusrele Kucinskiene ZKuzelova-Ptackova HKähler AKLaurent CKeong JLLee SHLegge SELerer BLi MLi TLiang KYLieberman JLimborska SLoughland CMLubinski JLönnqvist JMacek M JrMagnusson PKMaher BSMaier WMallet JMarsal SMattheisen MMattingsdal MMcCarley RWMcDonald CMcIntosh AMMeier SMeijer CJMelegh BMelle IMesholam-Gately RIMetspalu AMichie PTMilani LMilanova VMokrab YMorris DWMors OMurphy KCMurray RMMyin-Germeys IMüller-Myhsok BNelis MNenadic INertney DANestadt GNicodemus KKNikitina-Zake LNisenbaum LNordin AO'Callaghan EO'Dushlaine CO'Neill FAOh SYOlincy AOlsen LVan Os JPantelis CPapadimitriou GNPapiol SParkhomenko EPato MTPaunio TPejovic-Milovancevic MPerkins DOPietiläinen OPimm JPocklington AJPowell JPrice APulver AEPurcell SMQuested DRasmussen HBReichenberg AReimers MARichards ALRoffman JLRoussos PRuderfer DMSalomaa VSanders ARSchall USchubert CRSchulze TGSchwab SGScolnick EMScott RJSeidman LJShi JSigurdsson ESilagadze TSilverman JMSim KSlominsky PSmoller JWSo HCSpencer CAStahl EAStefansson HSteinberg SStogmann EStraub REStrengman EStrohmaier JStroup TSSubramaniam MSuvisaari JSvrakic DMSzatkiewicz JPSöderman EThirumalai SToncheva DTosato SVeijola JWaddington JWalsh DWang DWang QWebb BTWeiser MWildenauer DBWilliams NMWilliams SWitt SHWolen ARWong EHWormley BKXi HSZai CCZheng XZimprich FWray NRStefansson KVisscher PMAdolfsson RAndreassen OABlackwood DHBramon EBuxbaum JDBørglum ADCichon SDarvasi ADomenici EEhrenreich HEsko TGejman PVGill MGurling HHultman CMIwata NJablensky AVJönsson EGKendler KSKirov GKnight JLencz TLevinson DFLi QSLiu JMalhotra AKMcCarroll SAMcQuillin AMoran JLMortensen PBMowry BJNöthen MMOphoff RAOwen MJPalotie APato CNPetryshen TLPosthuma DRietschel MRiley BPRujescu DSham PCSklar PSt Clair DWeinberger DRWendland JRWerge TDaly MJSullivan PF, O'Donovan MC).: Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/nature13595. Epub 2014 Jul 22.

  11. Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research ConsortiumforSpinocerebellarAtaxia (CRC-SCA); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G: Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

  12. Sipeky C, Matyas P, Melegh M, Janicsek I, Szalai R, Szabo I, Varnai R, Tarlos G, Ganczer A, Melegh B: Lower carrier rate of GJB2 W24X an cestral Indian mutation in Roma samples from Hungary: implication for public health intervention. Mol Biol Rep. 2014 Sep;41(9):6105-10. doi: 10.1007/s11033-014-3488-8. Epub 2014 Jun 27.

  13. Duga B, Czako M, Komlosi K, Hadzsiev K, Torok K, Sumegi K, Kisfali P, Kosztolanyi G, Melegh B: Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension. Mol Cytogenet. 2014 Jun 5;7:36. doi: 10.1186/1755-8166-7-36. eCollection 2014.

  14. Tezenas du Montcel SDurr ARakowicz MNanetti LCharles PSulek AMariotti CRola RSchols LBauer PDufaure-Garé IJacobi HForlani SSchmitz-Hübsch TFilla ATimmann Dvan de Warrenburg BPMarelli CKang JSGiunti PCook ABaliko L, Melegh B, Boesch SSzymanski SBerciano JInfante JBuerk KMasciullo MDi Fabio RDepondt CRatka SStevanin GKlockgether TBrice AGolmard JL: Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29. Erratum in: J Med Genet. 2014 Sep;51(9):613. Bela, Melegh [corrected to Melegh, Béla].

  15. Magyari L, Kovesdi E, Sarlos P, JavorhazyA, Sumegi K, Melegh B: Interleukin and interleukin receptor gene polymorphisms in inflammatory bowel diseases susceptibility. World J Gastroenterol. 2014 Mar 28;20(12):3208-22. doi: 10.3748/wjg.v20.i12.3208.

  16. Duga B, Czakó M, Hadzsiev K, Komlósi K, Sümegi K, Kisfali P, Kosztolányi G, Melegh B: [Identifying rare genomic disorders with array comparative genomic hybridization in Hungary]. Orv Hetil. 2014 Mar 2;155(9):358-61. doi: 10.1556/OH.2014.29825. Hungarian.

  17. Sarlos P, Varszegi D, Csongei V, Magyari L, Jaromi L, Nagy L, Melegh B: Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions. World J Gastroenterol. 2014 Jan 7;20(1):219-27. doi: 10.3748/wjg.v20.i1.219.

  18. Magyari L, Varszegi D, Sarlos P, Jaromi L, Melegh BI, Duga B, Kisfali P, Kovesdi E, Matyas P, Szabo A, Szalai R, Melegh B. Marked differences of haplotype tagging SNP distribution, linkage, and haplotype profile of IL23 receptor gene in Roma and Hungarian population samples. Cytokine. 2014;65(2):148-52.

  19. Varszegi D, Duga B, Melegh BI, Sumegi K, Kisfali P, Maasz A, Melegh B: Hodgkin disease therapy induced second malignancy susceptibility 6q21 functional variants in roma and hungarian population samples. Pathol Oncol Res. 2014 Jul;20(3):529-33. doi: 10.1007/s12253-013-9724-z. Epub 2013 Dec 5.

  20. Komlósi K, Hadzsiev K, Garbes L, MartínezCarreraLA, Pál E, Sigurðsson JH, Magnusson O, Melegh B, Wirth B.: Exome sequencing identifies Laing distalmyopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. Neuromuscul Disord. 2014 Feb;24(2):156-61. doi: 10.1016/j.nmd.2013.10.010. Epub 2013 Nov 11.



  1. Papp H, Borzák R, Farkas S, Kisfali P, Lengyel G, Molnár P, Melegh B, Matthijnssens J, Jakab F, Martella V, Bányai K. Zoonotic transmission of reassortant porcine G4P[6] rotaviruses in Hungarian pediatric patients identified sporadically over a 15year period. Infect Genet Evol. 2013 Oct;19:71-80. doi: 10.1016/j.meegid.2013.06.013. Epub 2013 Jun 19.

  2. Dandár E, Bálint A, Kecskeméti S, Szentpáli-Gavallér K, Kisfali P, Melegh B, Farkas SL, Bányai K. Detection and characterization of a divergent avian reovirus strain from a broiler chicken with central nervous system disease. Arch Virol. 2013 Dec;158(12):2583-8. doi: 10.1007/s00705-013-1739-y. Epub 2013 Jun 16.

  3. Kövesdi E, Hadzsiev K, Komlósi K, Kassay M, Barsi P, Melegh B.Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis Orv Hetil. 2013 Jun 9;154(23):914-8. doi: 10.1556/OH.2013.29634. Hungarian. Erratum in: Orv Hetil. 2013 Aug 18;154(33):1324.

  4. Moorjani P, Patterson N, Loh PR, Lipson M, Kisfali P, Melegh BI, Bonin M, Kádási L, Rieß O, Berger B, Reich D, Melegh B: Reconstructing Roma history from genome-wide data. PLoS One. 2013;8(3):e58633. doi: 10.1371/journal.pone.0058633. Epub 2013 Mar 13.

  5. Kisfali P, Komlósi K, Hadzsiev K, Melegh B. [Larsen-syndrome: final diagnosis following multiple surgical interventions]. Orv Hetil. 2013 Jan 27;154(4):143-6. doi: 10.1556/OH.2013.29534. Hungarian.

  6. Safrany E, Szabo M, Szell M, Kemeny L, Sumegi K, Melegh BI, Magyari L, Matyas P, Figler M, Weber A, Tulassay Z, Melegh B. Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis. Inflamm Res. 2013 Feb;62(2):195-200. doi: 10.1007/s00011-012-0566-z. Epub 2012 Oct 25.

  7. Szabo M, Safrany E, Pazar B, Melegh BI, Kisfali P, Poor G, Figler M, Szekanecz Z, Czirjak L, Melegh B. Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis. Mol Biol Rep. 2013 Jan;40(1):359-63. doi: 10.1007/s11033-012-2068-z. Epub 2012 Oct 10.



  1. Melegh B I, Maász A, Kisfali P, Sümegi K, Duga B, Kosztolányi G, Komoly S, Melegh B. Ischemic Stroke Susceptibility Gene Research: Lessons We Learned. Virag Lakatos and Balazs Somogyi (szerk) Ischemic Stroke: Symptoms, Prevention and Recovery, 2012, Nova Science Publishers Inc., New York, pp. 117-144.

  2. Duga B, Melegh B I, Sümegi K, Maász A, Kisfali P, Komlósi K, Melegh B. Role of Functional Variants and Mutations of the Apolipoprotein A5 Gene in Human Pathology. Adrik D. Sidorov and Misha Y. Nikitin (szerk) Apolipoproteins: Regulatory Functions, Health Effects and Role in Disease, 2012, Nova Science Publishers Inc., New York, pp 75-92.

  1. Bela Melegh MD, PhD, DSc- OTKA „Functional annotation of genomic signatures using array CGH and NGS analysis of phenotypic variants with Mendelian inheritance” (ID number: 103983) (October 2012-September 2016)

  2. Katalin Komlosi MD, PhD –OTKA „Next generation sequencing analysis of mitochondrial diseases with unknown origing which are liked to functional impairment of the respiratory chain” (ID number:112831) (September 2014- August 2017)

  3. Judit Bene MSc, PhD- Bolyai Janos Research Scholarship „ Analysis of conditions of arnitine metabolomics-associated changes with array CGH and mass spectrometry” (September 2013-August 2016)

  4. Katalin Komlosi MD, PhD - Bolyai Janos Research Scholarship „ Investigation of genetically unidentified neuromuscular diseases with next Generation techniques” (September 2013-August 2016)

  5. Balazs Duga MSc- Apaczai Csere Janos PhD Scholarship (March 2013-February 2014)

  6. Erzsebet Kovesdi MSc, PhD - European Society of Human Genetics Young Researcher Scholarship (May 2014)

  7. Balazs Duga MSc - European Society of Human Genetics Young Researcher Scholarship (May 2013)

  8. Bela Melegh MD, PhD, DSc - Research on the pathogenesis of rare diseases, fundamental developments for new procedures, GINOP-2.3.2-15-2016-00039

  9. Bela Melegh MD, PhD, DSc - Analysis of the molecular base of "Rare-and undiagnosed diseases" and reconstructing their origin by new generation genomic tools, NKFI K 119540 (2016.október-2021.március)

  • Biobanking and Biomolecular Resources Research Infrastructure (BBMRI; www.bbmri.eu)
  • Ataxia Study Group (ASG), ERare3, EU7 network
  • Neuromix
  • Diagnostics
  • DNA sequencing
  • CGH array
  • Carnitine-esther profile analysis
  • mass spectrometry
  • ABIPRISM 3500 DNA Sequencer
  • Agilent Microarray Scanner
  • Micromass Quattro Ultima QQ massspectrometer
  • Bio-Rad Chromo4 real-time machine
  • Roche Lightcycler real-time machine

Clinical genetics and genomics research group

Prof. Dr. Béla Melegh
Research Group Leader
 +36 72 536001*