Genexpress, s.r.o. - DNA diagnostika dedičných ochorení Naše publikácie

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Monografie a učebné texty

Vogt G., Kádasi L’., Czeizel E.: A szem fejlődési rendellenességei.(Developmental defects of eyes). Magyarországi gyakoriságuk, genetikai és külső kórokaik, megelőzési lehetőségeik. Budapest 2009, Medicina Kiadó Zrt., ISBN 978-963-226-198-0, 256 s.
Kádaši Ľ. Molekulárna genetika vybraných monogénne dedičných ochorení. Bratislava: Veda, 2005, ISBN 80-2240869-7, 224 s.
Kádaši Ľ., Radvánszky J. a kol. Časté monogénne dedičné ochorenia v populácii Slovenska. Veda Bratislava 2014, ISBN 978-80-224-1363-3, 655s.
Ficek A. Úvod do genetických konzultácií a DNA diagnostických postupov monogénových ochorení človeka. - 1. vyd. - Bratislava : Centrum vedecko-technických informácií SR, 2021. - 76 s. ISBN 978-80-89965-87-8
Šoltýsová, Andrea. Základy microarray technológie na analýzu nukleových kyselín. - 1. vyd. - Bratislava : Centrum vedecko-technických informácií SR, 2021. - 84 s. ISBN 978-80-89965-84-7

Vedecké práce v zahraničných karentovaných/impaktovaných časopisoch

Genčík, A., Kádasi, Ľ., Genčíková, A.: Notes on the genetics of congenital glaucoma. Ophtalmologica Basel, 179/2: 209 ‑ 213, 1979.
Kádasi, Ľ.: Cleft lip and palate as part of thesymptomatology of different syndromes. Acta Chir. Plast., 22/2:185 ‑ 190, 1980.
Pálová, A., Halásová, E., Kamenická, E., Kádasi, Ľ.: De novo deletion 1p(34‑pter). Hum. Genet., 69/1: 94, 1985.
Kádasi, Ľ.: Estimating the error rate in DNA diagnosis with linked markers. Hum. Hered., 39:67 ‑ 74, 1989.
Lebo, R. V., Kádasi, Ľ., Ferák, V., : Mapping the Duffy linked Charcot‑Marie‑Tooth disease locus. Cytogenet Cell Genet., 51/1-4:1030‑31, 1989. (počet ref. 1)
Speer, A., Kraft, U., Hanke, R., Grade, K., Coutelle, Ch., Wulf, K., Wehnert, M., Herman, F. H., Kádasi, Ľ., Kunert, E., Muller, U., Forster, C., Wolf, C., Szibor, R.: Deletion analysis of DMD/BMD families from German Democratic Republic and selected regions of Czechoslovakia and Hungary. J. Med. Genet., 27/11:679 ‑682, 1990. (počet ref. 10)
Kádasi, Ľ., Gécz, J., Saksová, L.: Frequency and distribution of deletions in the dystrophin gene in Duchenne muscular dystrophy patients from an East‑European Slavonic population. Gene Geography, 5/3:137‑140, 1991.
Puliti, A., Orriols, J. J., Ronchetto, P., Fenu, L., Devoto, M., Romeo, G., Kádasi, Ľ., Gecz, J., Ferák, V.: Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. Adv. Exp. Med. Biol., 290:383-385, 1991.
Kádasi, Ľ., Gécz, J., Matúšek, J., Krivušová, T., Ferák, V., Devoto, M., Hruškovič, I., Romeo, G.: Deletion deltaF508 and haplotype analysis of CFTR gene region in Slovak CF patients. Hum. Genet., 89/3:305‑306, 1992. (počet ref. 10)
Saksová,Ľ., Gécz, J., Kádasi, Ľ., Ferák, V.: A TaqI digestion of PCR product increases the informativity of the St‑14 VNTR for the diagnosis of haemophilia A. Dis. Markers, 11/2-3:139‑141, 1993. (počet ref. 2)
Cystic Fibrosis Genotype-Phenotype Consortium ( Kádasi, Ľ., ), Hamosh, A (study coordinator): Correlation between genotype and phenotype in cystic fibrosis patients. New England J. Med., 329:1308‑1313, 1993.
Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., Reis, A., Varon-Mateeva, R., Macek, M. Jr., Kaladjieva, L., Anglicheva D., Dancheva, R., Romeo, G., Russo, M. P., Garnerone, S., Restagno, G., Ferrari, M., Magnani, C., Clausters, C., Desgeorges, M., Schwartz, M., Schwarz, M., Dallapiccola, B., Novelli, G., Ferec, C., de Arce, M., Nemeti, M., Kere, J., Anvert, M., Dahl, N., Kádasi, Ľ.: The origin of the major cystic fibrosis mutation (deltaF508) in European populations. Nature Genetics, 7/2:169‑175, June 1994. (počet ref. 36)
Kádasi, Ľ., Gécz, J., Feráková, I., Lubyová, B., Bohušová T., Ferákova, E., Polákova, H.: Distribution of ApoBII, MCT118 (D1S80), YNZ22 (D17S30), and COL2A1 Amp‑FLPs in Caucasoid population of Slovakia. Gene Geography, 8/2:121-127, 1994. (počet ref. 15)
Kádasi, Ľ., Poláková, H., Feráková, E., Hudecová, S., Bohušová, T., Szomolayová, I., Strnová, J., Hruškovič, I., Moschonas, N., Ferák, V.: PKU in Slovak Republic: Mutation screening and haplotype analysis. Hum. Genetics, 95/1:112‑114, 1995. (počet ref. 11)
Kádasi, Ľ., Bohušová, T.: A new extremly large allele at the D1S89 (MCT118) locus. J. Forensic. Sci., 40/5:906-907, 1995. (počet ref. 4)
Estivill X; ...... Ferak V; Kadasi L; Kayserova H; Glavac D; RavnikGlavac M; Efremov GD; CankiKlein N; Kere J.: Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum. Mutation, 10/2:135-154, 1997. (počet ref. 23)
Kádasi, Ľ., Poláková, H., Zaťková, A., Kayserová, H.: Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients. Gene Geography, 11:51-56, 1997.
Zaťková, A., Kádasi, Ľ.: Deletion analysis of the SMN and NAIP genes in Slovak SMA patients. J. Med. Genet., 9:176, 1997.
Plašilová, M., Kádasi, Ľ., Poláková, H., Feráková, E., Ferák, V.: Linkage mapping of a locus for primary congenital glaucoma in Slovak Gypsy population. J. Med. Genet., 9:117, 1997.
Poláková, H., Kádasi, Ľ., Filová, A.: Factor VIII gene inversions in hemophilia A patients of Slovakia. Hum. Hered., 48/1:34-37, 1998.
Plášilová, M., Feráková, E., Kádasi, Ľ., Poláková, H., Gerinec, A., Ott, J., Ferák, V.: Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum. Hered., 48/1:30-33, 1998.
Plášilová, M., Stoilov, I., Sarfarazi, M., Kádasi, Ľ., Feráková, E., Ferák, V.: Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J. Med. Genet., 36/4:290-294, 1999.
Zaťková, A., Hahnen, E., Wirth, GB., Kádasi, Ľ.: Analysis of the SMN and NAIP genes in Slovak spinal muscular artrophy (SMA) patients. Hum. Hered., 50/3:171-174, 2000.
Dork T; Macek M; ....Tsukerman G; Kadasi L; Ravnik-Glavac M; Zielenski J.: A novel 21-kilobase deletion, CFTRdele2,3(21kB), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum. Genet. 106/3:259-268, 2000.
Zaťková, A., Poláková, H., Mičutková, L., Zvarík, M., Bošák, V., Feráková, E., Matušek, J., Ferák, V., Kádasi, Ľ.: Novel mutations in homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. J. Med. Genet., 37/7:539-542, 2000.
Zaťková, A., Valero de Bernabé, D. B., Poláková, H., Zvarík, M., Feráková, E., Bošák, V., Ferák, V., Kádasi, Ľ., Rodríguez de Cordoba, S.: High frequency of alkaptonuria in Slovakia. Evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am. J. Hum. Genet., 67/5:1333-1339, 2000.
Zaťková, A., Chmelíková, A., Poláková, H., Feráková, E., Kádasi, Ľ.: Rapid detection methods for five HGO gene mutations causing alkaptonuria. Clin. Genet., 63/2:145-149, 2003.
Shaw, M.A., Brunetti-Pierri,N., Kádasi, Ľ., Kováčová, V., Gécz, J.: Identification of two novel SEDL gene mutations, one affecting the rare noncanonical splice site, and a summary of SEDL mutations to date. Clin. Genet., 64/3:235-242, 2003.
Groman J.D., Hefferon, T.W., Casals, T., Bassas, L., Estivill, X., Des Georges, M., Koudova, M., Fallin, M.D., Nemeth, K., Fekete, G., Kádasi, L., Friedman, K., Schwarz, M., Bombieri, C., Pignatti, G.F., Kanavakis, E., Tzetis, M., Schwartz, M., Novelli, G., D Apice, M.R., Sobczynska-Tomaszewska, A., Bal, J., Stuhrmann, M., Macek, M.Jr., Claustres, M., Cutting G.R.: Variation in a repeat sequence determines wheter a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am. J. Hum. Genet., 74/1:176-179, 2004.
Minarik G., Ferakova E., Ficek A., Polakova H., Kadasi L.: GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis. Clinical Genetics, 68/6:554-557, 2005.
Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Soliveri P, Lange HW, Weirich-Schwaiger H, Wenning GK, Melegh B, Havasi V, Baliko L, Wieczorek S, Arning L, Zaremba J, Sulek A, Hoffman-Zacharska D, Basak AN, Ersoy N, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O.: The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease. Neurogenetics, 7/1:27-30, 2006.
Metzger S, Bauer P, Tomiuk J, Laccone F, DiDonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Baliko L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribai P, Kadasi L, Kvasnicova M, Weber BHF, Kreuz F, Dose M, Stuhrmann M, Riess O: Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease. HUMAN GENETICS 120 (2): 285-292 SEP 2006
Lehocký, I., Baldovič, M., Kádaši, Ľ., Mestspalu, E.: A database of mitochondrial DNA hypervariable regions I and II sequences of individuals from Slovakia. Forensic Sci Int: Genetics, 2:e53-e59, 2008.
Pálffy R., Gardlík R., Behuliak,M., Kadasi L., Turna,J., Celec P.: On the physiology and pathophysiology of antimicrobial peptides. Mol. Med., 15:51-59, 2009, (IF=3,411)
Radvansky J., Minarik G., Kádasi Ľ.: Comparison of two DNA binding dyes for applications of high-resolution melting analysis. In FEBS Letters : Federation of European Biochemical Societies Letters for the Rapid Publication of Short Reports in Biochemistry, Biophysics and Molecular Biology. ISSN 0014-5793, 2009, vol. 276, p. 337-337. (3.264 - IF2008).
Radvansky J., Resko P., Surovy M., Minarik G., Ficek A., Kadasi L.: High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. Analytical Biochemistry, 398:126-128, 2010 (3,088 – IF2010).
Radvansky J., Kadasi L.: The expanding world of myotonic dystrophies: How can they be detected? Genet. Test. Molec. Biom., 14 (6):733-741, 2010 (IF=1,17).
Pálffy R., Behuliak M., Gardlik R., Jani P., Kádaši Ľ., Turňa J., Celec P.: Oral in vivo Bactofection in Dextran Sulfate Sodium Treated Female Wistar Rats. In Folia Biologica -Krakow, 2010, vol. 58, iss. 3-4, p.171-176. (0,547 – IF2009)
Kovács, L., Hlavatá, A., Baldovič, M., Paulovičová, E., Dallos, T., Fehérvízyová, Z., Kádaši, Ľ.: Elevated immunoglobulin D levels in children with PFAPA syndrome. Neuro Endocrinol Lett., 31(6), 101-104, 2010 (1,621 - IF2010),
Radvánský J., Bazsalovicsová E., Králová-Hromadová I., Minárik G., Kádaši Ľ.: Development of high-resolution melting (HRM) analysis for population studies of Fasciolodies magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants. Parasito. Res., 108:201-209, 2011 (1,721 – IF2009)
Palffy R., Gardlik R., Behuliak M., Jani P., Balakova D., Kadasi L., Turna J., Celec P.: Salmonella-mediated gene therapy in experimental colitis in mice. Exp. Biol. Med., 236:177-183, 2011 (2,6 – IF2010)
Radvansky J., Ficek A., Minarik G., Palffy R., Kadasi L.: Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagn. Mol. Pathol., 20(1):48-51, 2011 (1,579-IF2010).
Radvansky J., Ficek A., Kadasi L.: Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing. Genet. Test. Mol. Bioma., 15(3):133-136, 2011 (1,17-IF2009)
Radvansky J., Ficek A., Kadasi L.: Upgrading molecular diagnostics of myotonic dystrophies: Multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs . Molecular and Cellular Probes. - ISSN 0890-8508. - Vol. 25, Iss. 4, s. 182-185, 2011 (2,078-IF2011)
Soltysova A., Minarik G., Dzurenkova A., Sufliarska S., Kadasi L., Turna J., Mladosievicova B.: APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population. Pharmacogenomics, 12(4):577-592, 2011 (3,893-IF2010).
Zatkova A., Sedlackova T., Radvansky J., Polakova H., Nemethova M., Aquaron R., Dursun I., Usher JL., Kadasi L.: Identification of 11 novel homogentisates 1,2 dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database. J. Inherit. Metab. Dis., 4:55-65, 2012 (3,808-IF2011).
Minarik G., Tretinárová D., Szemes T., Kádasi Ľ.: Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. Int. J. Ped. Otorhin., 76:400-403, 2012 (1,067-IF2011).
Celec P, Tretinárová D, Minárik G, Ficek A, Szemes T, Lakatošová S, Schmidtová E, Turňa J, Kádaši Ľ, Ostatníková D.: Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys. PlosOne, 8(1):e54751, 2013 (4,092-IF2012).
Moorjani P, Patterson N, Loh P-R, Lipson M, Kisfali P, Melegh BI, Bonin M, Kádaši Ľ, Riess O, Berger B, Reich D, Melgh B.: Reconstructing Roma history from genome-wide data. PlosOne, 8(3):e58633, 2013 (4,092-IF2012).
Polak E, Ficek A, Radvanszky J, Sotysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.: Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. Gene, 526:347-355, 2013 (2,196–IF2013).
Radvanszky J, Surovy M., Polak E., Kadasi L.: Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. Neuromuscular Disorders, 23(591-598), 2013, (3,464-IF2013).
Nemethova M, Bolekova A., Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A.: Thirty-nine novel neurofibromatosis 1 (NF1) mutations identified in Slovak patients. Ann. Hum. Genet., 77:364-379, 2013, (2,215-IF2013).
Chocholova A, Soltysova A, Minarik G, Cierna I, Sufliarska S, Mladosievicova B. Thiopurine s-methyltransferase gene polymorphisms in a healthy slovak population and pediatric patients with inflammatory bowel disease. Nucleosides Nucleotides Nucleic Acids. 2013;32(5):239-46.
Sakthivel S, Zatkova A, Nemethova M, Surovy M, Kadasi L, SaravananMP: Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence. Ann. Hum. Genet., 78(3):155-164, 2014. (2,215-IF2013).
Demlova R, Mrkvicova M, Sterba J, Bernatikova H, Stary J, Sukova M, Mikuskova A, Chocholova A, Mladosievicova B, Soltysova A, Behulova D, Pilatova K, Zdrazilova-Dubska L, Valik D. Augmenting clinical interpretability of thiopurine methyltransferase laboratory evaluation. Oncology. 2014;86(3):152-8.
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.
Kádaši, L., & Cisárik, F. (2015). Genetics and genomic medicine in Slovakia. Molecular genetics & genomic medicine, 3(1), 8–13.
Nemethova, M., Radvanszky, J., Kadasi, L., ....., Gallagher, J. A., … Zatkova, A. (2016). Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ’black bone disease’ in Italy. European journal of human genetics : EJHG, 24(1), 66–72.Nemethova, M.,
Radvanszky, J., Kadasi, L., Ascher, D. B., Pires, D. E., Blundell, T. L., Porfirio, B., Mannoni, A., Santucci, A., Milucci, L., Sestini, S., Biolcati, G., Sorge, F., Aurizi, C., Aquaron, R., Alsbou, M., Lourenço, C. M., Ramadevi, K., Ranganath, L. R., Gallagher, J. A., … Zatkova, A. (2016). Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ’black bone disease’ in Italy. European journal of human genetics : EJHG, 24(1), 66–72.
Radvanszky, J., Hyblova, M., Durovcikova, D., Hikkelova, M., Fiedler, E., Kadasi, L., Turna, J., Minarik, G., & Szemes, T. (2017). Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Clinical genetics, 91(2), 339–343.
Soltysova A, Tothova Tarova E, Ficek A, Baldovic M, Polakova H, Kayserova H, Kadasi L. Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics. Clin Respir J. 2018 Mar;12(3):1197-1206.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. Eur J Hum Genet. 2019 Jun;27(6):888-902.
Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A. Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. Genes (Basel). 2019 Jun 15;10(6):459
Budiš, J., Kucharík, M., Duriš, F., Gazdarica, J., Zrubcová, M., Ficek, A., Szemes, T., Brejová, B., Radvanszky, J. Dante: Genotyping of known complex and expanded short tandem repeats (2019) Bioinformatics, 35 (8), pp. 1310-1317. DOI: 10.1093/bioinformatics/bty791
Kluckova D, Kolnikova M, Lacinova L, Jurkovicova-Tarabova B, Foltan T, Demko V, Kadasi L, Ficek A, Soltysova A. A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients. Sci Rep. 2020 Jun 24;10(1):10288.
Safka Brozkova D, Varga L, Uhrova Meszarosova A, Slobodova Z, Skopkova M, Soltysova A, Ficek A, Jencik J, Lastuvkova J, Gasperikova D, Seeman P. Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. Orphanet J Rare Dis. 2020 Aug 26;15(1):222.
Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A. Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients. Epilepsy Res. 2021 Oct;176:106699
Soltysova A, Kuzin A, Samarkina E, Zatkova A. Alkaptonuria in Russia. Eur J Hum Genet. 2021 Sep 10. doi: 10.1038/s41431-021-00955-1.
Radvanszky, J., Hyblova, M., Radvanska, E., Spalek, P., Valachova, A., Magyarova, G., Bognar, C., Polak, E., Szemes, T., & Kadasi, L. (2021). Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles. Journal of clinical medicine, 10(17), 3934.
Soltysova, A., Sekelska, M., & Zatkova, A*. (2022). Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients. European journal of human genetics : EJHG, 10.1038/s41431-022-01042-9.
Medova, V., Hulinkova, I., Laiferova, N., Urdova, V., Ciznar, P., Dolnikova, D., Krasnanova, V., Fabri, O., Ficek, A*., & Soltysova, A. (2022). The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients. Clinical immunology (Orlando, Fla.), 245, 109155

Vedecké práce v domácich karentovaných/impaktovaných časopisoch

Poláková, H., Zmetáková, I., Kádasi Ľ.: Long distance PCR in detection of inversion mutations of F8C gene in Slovak hemophilia A patients. Gen. Physiol. Biophys., 22/2:243-253, 2003.
Minárik, G., Ferák, V., Feráková, E., Ficek, A., Poláková, H., Kádasi, Ľ.: High frequency of GJB2 mutation W24X among Slovak Gypsy patients with non-syndromic hearing loss (NSHL). Gen. Physiol. Biophys., 22/4:549-556, 2003.
Poláková, H., Katrincsáková, B., Minárik, G., Feráková, E., Ficek, A., Baldovič, M., Kádaši, Ľ.: Detection of His1069Gln mutation in Wilson Disease by bidirectional PCR amplification of specific alleles (BI-PASA) test. Gen. Physiol. Biophys., 26:91-96, 2007.
Zmetáková I, Ferák V, Minárik G, Ficek A, Poláková H, Feráková E, Kádaši L.: Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. Gen. Physiol. Biophys., 26:306-310, 2007.
Kolesár, P., Minárik, G., Baldovič, M., Ficek, A., Kovács, L., Kádaši, Ľ.: Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: idenentification of four noval mutations. Gen. Phys. Biophys., 27:299-305, 2008. (počet ref. 12)
Tóthová Tarová, E., Poláková, H., Kayserová, H., Celec, P, Zuzulová, M., Kádaši, Ľ.: Study of the effect of DNA polymorphisms in the mannose-binding lectin gene (MBL2) on disease severity in Slovak cystic fibrosis patients. Gen. Physiol. Biophys., 30(4):373-378, 2011 (1,146-IF2011).
Resko, P., Radvansky, J., Odnogova, Z., Baldovic, M., Minarik, G., Polakova, H., Palffy, R., Kadasi, L.: Mutation analysis of the PMP22 gene in Slovak patients with Charcot-Marie-Tooth Disease and hereditary neuropathy with liability to pressure palsies. Gen. Physiol. Biophys., 30(4):379-388, 2011 (1,146-IF2011).
Desatova, D., Hlavaty, T., Balakova, D., Pav, I., Celec, P., Gregus, M., Zakuciova, M., Hlista, M., Horakova, M., Kadasi, L., Huorka, M., Batovsky, M.: Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients. Bratisl. lek. Listy, 113(5):282-284, 2012, (0,403-IF2012)
Hlavaty, T., Batovsky, M.., Balakova, D., Pav, I., Celec, P., Gregus, M.., Zakuciova, M., Hlista, M., Horakova, M., Desatova, D., Koller, T., Toth, J., Kadasi, L., Huorka, M.,: The impact of thiopurine-S-methyltransferase genotype on the adverse drug reactions to azathioprine in patients with inflammatory bowel diseases Bratislavské lekárske listy, Roč. 114(4):199-205, 2013 (0,403-IF2012)
Bognár, Cs., Baldovič, M., Benetin, J., Kádaši, Ľ., Zaťková, A.: Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients. Gen. Physiol. Biophys., 32:55-66, 2013 (1,192-IF2012)
Bolcekova, A., Nemethova, M., Zatkova, A., Hlinkova, K., Pozgayova, S, Hlavata, A., Kadasi, L., Durovcikova, D., Gerinec, A., Husakova, K., Pavlovicova, Z., Holobrada, M., Kovacs, L., Ilencikova, D.: Clustering of mutations in the 5´ tertile of the NF1 gene in Slovakia patients with optic pathway glioma. Neoplasma, 60(6): 655-665, 2013 (1,574-IF2013).
Geczova L, Soltysova A, Gecz J, Sufliarska S, Horakova J, Mladosievicova B. Avascular necrosis of bone in childhood cancer patients: a possible role of genetic susceptibility. Bratisl Lek Listy. 2015;116(5):289-95
Surovy M, Soltysova A, Kolnikova M, Sykora P, Ilencikova D, Ficek A, Radvanszky J, Kadasi L. Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. Gen Physiol Biophys. 2016 Apr 5
Pecimonova M, Polak E, Csicsay F, Reblova K, Stojiljkovic M, Levarski Z, Skultety L, Kadasi L, Soltysova A. Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase. Gen Physiol Biophys. 2017 Oct;36(4):361-371. doi: 10.4149/gpb_2017003. Epub 2017 Jun 27
Nagyova, E., Radvanszky, J., Hyblova, M., Simovicova, V., Goncalvesova, E., Asselbergs, F. W., Kadasi, L., Szemes, T., & Minarik, G. (2019). Targeted next-generation sequencing in Slovak cardiomyopathy patients. Bratislavske lekarske listy, 120(1), 46–51.
Radvanska, E., Pos, Z., Zatkova, A., Hyblova, M., Bauer, F., Szemes, T., Kadasi, L., & Radvanszky, J. (2022). Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children. Bratislavske lekarske listy, 123(8), 568–572

Vedecké práce v zahraničných nekarentovaných časopisoch

Ferák, V., Kroupová, Z., Kádasi, Ľ.: Genetic consequence of the breakdown of isolates in Slovakia. Scr. Medica, 50/1:81 ‑ 82, 1977.
Kádasi, Ľ., Šteiglová, M.: Analýza tripletu “CAG” v géne IT-15 v slovenských rodinách s výskytom Huntingtonovej chorey. Čes. a Slov. Neurol. Neurochir., 59:221-225, 1996.
Horváthová L., Hubertová, K., Kádasi, Ľ., Šimko, J.: Detekcia delécií v dystrofínovom géne pri Duchenneovej/Beckerovej muskulárnej dystrofii pomocou mnohonásobnej polymerázovej reťazovej reakcie. Čes. a Slov. Neurol. Neurochir., 59:201-205, 1996.
Macek, M.Jr., Krebsová, A., Macek, M., Ferák, V., Kádasi, Ľ., Tomášová, H., Kayserová, H., Vávrová, V.: Current possibilities of prenatal and postnatal molecular genetic diagnosis of cystic fibrosis in the Czech and Slovak Republics. Čes-Slov. Pediat., 7:557-564, 1997.
Polák, E., Ficek, A., Baldovič, M., Feráková, E., Šoltýsová, A., Strnová, J., Urge, O., Kovács, L., Kádaši, Ľ.: Komplexná mutačná analýza génu PAH u slovenských pacientov postihnutých fenylketonúriou. Čes.-slov. Pediat., 63/10:528-534, 2008.
Urdová, V., Horáková, J., Švec, P., Boďová, I., Šufliarska, S., Makohusová, M., Dóczyová, D., Pozdechová, M., Kolenová, A., Jeseňák, M., Šoltýsová, A., Ficek, A., Tkáčová, T.Z., Čižnár, P. Severe combined immunodeficiency in set of patients from national institute of children’s diseases [Ťažká kombinovaná imunodeficiencia v súbore pacientov liečených v Národnom ústave detských chorôb] (2021) Cesko-Slovenska Pediatrie, 76 (4), pp. 184-193.

Vedecké práce v domácich nekarentovaných časopisoch

Kádasi, Ľ., Ferák, V., Demjén, Š.: Genetické riziko pri rázštepoch pery a podnebia. Bratisl. lek. Listy, 69: 286 ‑ 291, 1978.
Kádasi, Ľ.: Podiel genetických faktorov na perinatálnej úmrtnosti. Bratisl. lek. Listy, 77:33 ‑ 39, 1982.
Kádasi Ľ.: Genetické faktory v etiológii perinatálnej úmrtnosti. Lek. Obzor, 36:35 ‑ 340, 1985.
Kádasi, Ľ.: Podiel geneticky podmienených patologických stavov na úmrtností detí vo veku medzi 8. dňom a 1. rokom života. Čs. Pediatrie, 40:415 ‑ 417, 1985.
Kádasi, Ľ., Ferák, V.: Analýza ľudskej DNA ako metóda diagnostiky monogénne dedičných ochorení. Lek. Obzor, 36:323 ‑ 331, 1987.
Kádasi, Ľ., Hruškovič, I., Thurzová, M., Gécz, J., Kayserová, H., Ferák, V.: DNA analýza ako metóda prevencie cystickej fibrózy. Čs. Pediatrie, 43:646 ‑ 651, 1988.
Kádasi, Ľ., Ferák, V., Thurzová, M., Kvasnicová, M.: Využitie analýzy DNA v prevencii progresívnych svalových dystrofií. Bratisl. lek. Listy, 89:828 ‑ 834, 1988.
Ferák, V., Kádasi, Ľ., Hrubiško, M., Siváková, D., Véghová, E.: Štúdium genetickej väzby medzi autozómovou dominantnou formou amyotrofie Charcot‑Marie‑Tooth a tromi genetickými markermi chromozómu č. 1. Čs. Neurologie, 52: 200 ‑ 207, 1989.
Poláková, H., Kádasi, Ľ., Zelinková, M.: Výťažok a kvalita DNA extrahovanej z krvných vzoriek pri rozličných spôsoboch ich uskladnenia. Bratisl. lek Listy, 90/11:844 ‑ 847, 1989.
Gécz, J., Kádasi, Ľ., Poláková, H., Ferák, V.: Uplatnenie analýzy DNA v diagnostike a prevencii hemofílie A. Bratisl. lek. Listy, 91/3:219 ‑ 224, 1990.
Ferák, V., Kádasi, Ľ.: Využitie analýzy ľudskej DNA pri identifikácii osôb. Čs. Kriminalistika, 23:25 ‑ 33, 1990.
Kádasi, Ľ., Poláková, H., Makovec, P., Ferák, V.: Určenie pohlavia zo zaschnutých krvných škvrn pomocou hybridizácie DNA. Čs. Kriminalistika, 23: 167 ‑ 171, 1990.
Kádasi, Ľ., Ferák, V., Grošek, O.: A simple approximation to the bivariate normal integral and its application to multifactorial threshold genetic traits. Acta F. R. N. Comen. ‑ Genetica et Biol. Molek., 22:47 ‑ 55, 1990.
Krajník, V., Kádasi, Ľ., Ferák, V.: Súčasné možnosti analýzy DNA pri skúmaní biologických stôp. Zborník "Kriminalita: Aktuálny problém súčasnej spoločnosti", Inštitút FMV, Bratislava 1991, 96 ‑ 100.
Kádasi, Ľ., Gécz, J., Ferák, V.: Amplifikácia DNA pomocou polymerázovej reťzovej reakcie (PCR) v medicínskej diagnostike. Lek. Obzor, 40:641 ‑ 650, 1991.
Kádasi, Ľ., Gécz, J., Puliti, A., Devoto, M., Ferák, V., Romeo, G., Kayserová, H., Kardošová, A., Hruškovič, I.: Mutácia deltaF508 zapríčiňujúca cystickú fibrózu a jej asociácia s tesne viazanými polymorfizmami DNA v slovenskej populácii. Bratisl. lek. Listy, 93/3:141‑145, 1992. (počet ref. 18)
Gécz, J., Saksová, L., Kádasi, Ľ., Véghová, E.: Identifikácia de novo mutácie v géne pre faktor VIII:C v rodine požadujúcej prenatálnu diagnostiku hemofílie A. Bratisl. lek. Listy , 93/9:459 ‑ 462, 1992. (počet ref. 15)
Kádasi, Ľ., Gécz, J., Krivušová, T., Matúšek, J., Ferák, V.: Haplotype analysis of the CFTR gene region and proportion of deltaF508 deletion in Slovak CF patients. Funct. Develop. Morphology, 2:141‑142, 1992.
Feráková, E., Ferák, V., Kádasi, Ľ., Poláková, H., Hejcmanová, L., Pijáčková, A.: A unique RFLP haplotype at the phenylalanine hydroxylase locus in Czechoslovak Gypsies with phenylketonuria. Funct. Develop. Morph., 2:139‑140, 1992.
Ferák, V., Kádasi, Ľ.: DNA analýza v identifikácii osôb. Kriminalistický zborník, 37:30‑34, 1993.
Kádasi, Ľ., Gécz, J., Saksová, L., Thurzová, M.: Molekulárno‑genetická analýza delécií pri progresívnyc svalových dystrofiách typu Duchenne a Becker. Bratisl. lek. Listy, 94/5:249‑253, 1993. (počet ref. 20)
Kádasi, Ľ., Poláková, H., Feráková, E., Krivušová, T., Hudecová, S., Szomolayová, I., Strnová, J., Hruškovič, I., Ferák, V.: DNA analýza pri klasickej fenylketonúrii ‑ skríning mutácií a haplotypová analýza v slovenských rodinách. Bratisl. lek. Listy, 95/5:147‑150, 1994.
Kádasi Ľ.: Diagnostika monogénovo podmienených ochorení, založená na analýze DNA (Využitie v prenatálnej diagnostike). Med. Monitor, 5:34-38, 1996.
Šoltýsova A, Ficek A: APEX microarray – nástroj na genotypizáciu farmakologicky relevantných polymorfizmov. NewsLab 1/2012, ISBN:978-80-970953-1-4
Geczová L, Šoltýsova A, Horákova J. Šufliarská S, Mladosievičová B. Osteonekróza po protinádorovej liečbe vo svetle nových genetických aspektov. Monitor medicíny SLS. - ISSN 1338-2551. - Roč. 4, č. 1-2 (2014), s. 11-12
Požgayová, S., Šufliarska, S., Ficek, A., Kovács, L., Ilenčíková, D. Monitoring of chimerism after allogeneic stem cell transplantation in children [Sledovanie Chimérizmu Po Alogénnej Transplantácii Krvotvorných Buniek U Detí] (2014) Lekarsky Obzor, 63 (11), pp. 432-436
Ficek A., Soltysova A., Kadasi L. Identifikácia metabolických ciest v patogenéze diabetickej retinopatie s využitím exómových sekvenačných dát – pilotná štúdia. Newslab, 2020; roč. 11 (1): 5 – 8, ISSN 1338-9661
Medova V*., Soltysova A., Kadasi L., Ficek A. Molekulárna diagnostika vrodenej neutropénie. Newslab, 2021; roč. 12 (1): 32 – 36