1. Tumas, Jaroslav; Baškirova, Inga; Petrėnas, Tomas; Norkūnienė, Jolita; Strupas, Kęstutis; Šileikis, Audrius. Towards a personalized approach in pancreatic cancer diagnostics through plasma amino acid analysis. Anticancer research. Athens : International Institute of Anticancer Research. 2019, vol. 39, no. 4, p. 2035-2042. ISSN: 0250-7005 ; eISSN: 1791-7530 ; DOI: 10.21873/anticanres.13314
  2. Gasiūnienė, Monika, Zentelytė, Aistė, Wojtas, Bartosz, Baronaitė, Sandra, Krasovskaja, Natalija, Savickienė, Jūratė, Gielniewski, Bartlomiej, Kaminska, Bozena, Utkus, Algirdas, Navakauskienė, Rūta, DNA methyltransferases inhibitors effectively induce gene expression changes suggestive of cardiomyogenic differentiation of human amniotic fluidderived mesenchymal stem cells via chromatin remodeling. Journal of tissue engineering and regenerative medicine. 2019, Hoboken : Wiley. First published online, p. [1-13]. ISSN: 1932-6254 ; DOI: 10.1002/term.2800.
  3. Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau, Alexandre Reymond and Vaidutis Kučinskas, De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome. Genomics Insights, 2019, Volume 12: 1–5. DOI: 10.1177/117863101983901.
  4. A. Valiulis, J. Bousquet, A. Veryga, U. Suprun, D. Sergeenko, S. Cebotari, D. Borelli, S. Pietikainen, J. Banys, I. Agache, ... A. Utkus ir kt. Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‑management, mHealth and air pollution in chronic respiratory diseases. ISSN: 2045-7022; DOI: 10.1186/s13601-019-0242-2. Clinical and translational allergy. London: BMC. 2019, vol. 9, art. no. 7, p. [1-10].
  5. Gasiūnienė M, Zentelytė A, Treigytė G, Baronaitė S, Savickienė J, Utkus A, Navakauskienė R. Epigenetic alterations in amniotic fluid mesenchymal stem cells derived from normal and fetus-affected gestations: A focus on myogenic and neural differentiations.  Cell Biol Int. 2019 Mar;43(3):299-312. doi: 10.1002/cbin.11099. Epub 2019 Jan 28.
  6. Edgaras Dlugauskas, Robertas Strumila, Aistė Lengvenytė, Laima Ambrozaitytė, Evelina Dagytė, Alma Molytė, Alvydas Navickas & Algirdas Utkus, Analysis of Lithuanian CYP2D6 polymorphism and its relevance to psychiatric care of the local population. ISSN: 0803-9488; DOI: 10.1080/08039488.2018.1548648. Nordic journal of psychiatry. Abingdon: Taylor & Francis Ltd. 2019, First published online, p. [1-5].
  7. Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I1. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome. Mitochondrial DNA. Part A. 2018, vol. 29, no 7. p. 1115-1120. DOI: 10.1080/24701394.2017.1413365. ISSN: 2470-1394.
  8. Massidda, Myosotis; Mendez-Villanueva, Alberto; Ginevičienė, Valentina; Proia, Patrizia; Drozdovska, Svitlana B; Dosenko, Victor; Scorcu, Marco; Stula, Aleksander; Sawczuk, Marek; Calò, Carla Maria; Association of monocarboxylate transporter-1 (MCT1) A1470T polymorphism (rs1049434) with forward football player status. ISSN: 0172-4622 ; DOI: 10.1055/a-0634-6387. International journal of sports medicine. Stuttgart : Georg Thieme Verlag. 2018, vol. 39, no 13, p. 1028-1034.
  9. Gasiūnienė, Monika; Zubova, Anastasija; Utkus, Algirdas; Navakauskienė, Rūta; Epigenetic and metabolic alterations in human amniotic fluid stem cells induced to cardiomyogenic differentiation by DNMT and p53 inhibitors. ISSN: 0730-2312 ; DOI: 10.1002/jcb.28092. Journal of cellular biochemistry. Hoboken : Wiley. 2018, first on line, p. 1-15.
  10. B. Tumienė, A. Maver, K. Writzl, A. Hodžić, G. Čuturilo, R. Kuzmanić-Šamija, V. Čulić, B. Peterlin, Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. Clin Genet. 2018;93:1057–1062. https://doi.org/10.1111/cge.13203.
  11. Poškus, Eligijus; Kryžauskas, Marius; Poškus, Tomas; Mikalauskas, Saulius; Samalavičius, Narimantas Evaldas; Aliošin, Oleg; Dailidėnas, Šarūnas; Tamelis, Algimantas; Saladžinskas, Žilvinas; Lizdenis, Paulius; Jakaitienė, Audronė; Smailytė, Giedrė; Strupas, Kęstutis. Improved perioperative care is associated with improved long-term survival in colorectal cancer // International journal of colorectal disease. Heidelberg ; New York : Springer. ISSN 0179-1958. eISSN 1432-1262. 2018, vol. 33, no. 6, p. 779-785. (Original article). DOI: 10.1007/s00384-018-3021-y.
  12. Zaleckienė, Vaida; Pečiulienė, Vytautė; Brukienė, Vilma; Jakaitienė, Audronė; Aleksejūnienė, Jolanta; Zaleckas, Linas. Knowledge about traumatic dental injuries in the permanent dentition: a survey of Lithuanian dentists // Dental traumatology. Hoboken : Wiley. ISSN 1600-4469. eISSN 1600-9657. 2018, Vol. 34, no 2, p. 100-106. DOI: 10.1111/edt.12388.
  13. Vaišvilas M, Dirse V, Aleksiuniene B, Tamuliene I, Cimbalistiene L, Utkus A, Rascon J. Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication. Balkan J Med Genet, 21 (1), 2018 l 87-92, DOI: 10.2478/bjmg-2018-0002.
  14. Birutė Tumienė, Borut Peterlin, Aleš Maver, Algirdas Utkus, Contemporary scope of inborn errors of metabolism involving epilepsy or seizures. Metab Brain Dis. 2018 Jul 13. doi: 10.1007/s11011-018-0288-1. [Epub ahead of print], p. 1-6.
  15. Žaliūnas, Bronius; Bartkevičienė, Daiva; Drąsutienė, Gražina Stanislava; Utkus, Algirdas; Kurmanavičius, Juozas. Fetal biometry: relevance in obstetrical practice. Medicina. Kaunas: Lietuvos sveikatos mokslų universitetas. 2018, first on line. p. 1-8. ISSN: 1010-660X ; DOI: 10.1016/j.medici.2018.01.004.
  16. Laura Pranckėnienė, Audronė Jakaitienė, Laima Ambrozaitytė, Ingrida Kavaliauskienė, Vaidutis Kučinskas, Insights Into de novo Mutation Variation in Lithuanian Exome. Frontiers in Genetics, August 2018 | Volume 9 | Article 315, p.1-8, https://doi.org/10.3389/fgene.2018.00315.
  17. Beata Aleksiūnienė, Egle Preikšaitiene, Aušra Morkūnienė, Laima Ambrozaitytė, Algirdas Utkus. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect. Cytogenet Genome Res. 2018;154(1):6-11. doi: 10.1159/000486947. Epub 2018 Feb 9.
  18. Bianca Tesi, Jelena Rascon, Samuel C.C. Chiang, Birute Burnyte, Alexandra Löfstedt, Anders Fasth, Miriam Heizmann, Sandra Juozapaite, Rosita Kiudeliene, Egle Kvedaraite, Valdone Miseviciene, Audrone Muleviciene, Martha-Lena Müller, Magnus Nordenskjöld, Reda Matuzeviciene, Ruta Samaitiene, Carsten Speckmann, Sigita Stankeviciene, Vytautas Zekas, Matthias Voss, Stephan Ehl, Nerija Vaiciene-Magistris, Jan-Inge Henter, Marie Meeths, Yenan T. Bryceson. A RAB27A 5'UTR structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation. Journal of allergy and clinical immunology. New York : Mosby-Elsevier. 2018, vol. 00, no. 00. p. 00-00. ISSN: 0091-6749 ; DOI: 10.1016/j.jaci.2018.02.031.
  19. Analysis of shared heritability in common disorders of the brain / The Brainstorm Consortium [Author contributions: 527; from Lithuania : Vaidutis Kučinskas].Science. Washington : American Association for the Advancement of Science. 2018, Vol. 360, no 6395, art. no eaap8757. [p. 1-15]. ISSN: 0036-8075 ; DOI: 10.1126/science.aap8757.
  20. Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium [from Lithuania Kucinskas V, Kucinskiene ZA]. Age at first birth in women is genetically associated with increased risk of schizophrenia. Sci Rep. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.
  21. Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium [from Lithuania V. Kučinskas, Z. A. Kučinskienė]. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.
  22. Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium [from Lithuania V. Kučinskas, Z. A. Kučinskienė], Wray NR, Lee SH. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood. Am J Hum Genet. 2018 Jun 7;102(6):1185-1194. doi: 10.1016/j.ajhg.2018.03.021.
  23. L. Gueneau, R. J. Fish, H. E. Shamseldi, ... E. Preiksaitiene, L. Ambrozaityte, L. Cimbalistienė, V. Kučinskas et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. American Journal of Human Genetics. – ISSN 0002-9297. – 2018, vol. 102, iss. 1, p. 116–132.
  24. M. E. Rubio-Gozalbo, A. M. Bosch, A. Burlina, G. T. Berry ... [et al.] Steering Committee on behalf of all Galactosemia Network representatives, [from Lithuania B. Burnytė]. The galactosemia network (GalNet). Journal of inherited metabolic disease. 2017, Vol. 40, no 2. p. 169-170, ISSN: 0141-8955; DOI: 10.1007/s10545-016-9989-y.
  25. J. Stavusis, I. Inashkina, B. Lace, D. Pelnena, S. Limborska, A. Khrunin,V. Kučinskas, A. Krumina, L. Piekuse, B. Zorn, V. Fodina, M. Punab, J. Erenpreiss, A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene. Hum Hered – ISSN 0001-5652 – vol. 82, iss. 3-4, p. 140-146, DOI: 10.1159/000481434. Published online: November 2, 2017.
  26. Kačergius T, Abu-Lafi S, Kirkliauskienė A, Gabė V, Adawi A, Rayan M, Qutob M, Stukas R, Utkus A, Zeidan M, Rayan A, Inhibitory capacity of Rhus coriaria L. extract and its major component methyl gallate on Streptococcus mutans biofilm formation by optical profilometry: Potential applications for oral health. Mol Med Rep. 2017 Jul;16(1):949-956. doi: 10.3892/mmr.2017.6674. Epub 2017 Jun 1.
  27. Tumiene B, Čiuladaitė Ž, Preikšaitienė E, Mameniškienė R, Utkus A, Kučinskas V. Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome. J Appl Genet. 2017 Sep 21. doi: 10.1007/s13353-017-0408-3. [Epub ahead of print].
  28. Savickienė J, Matuzevičius D, Baronaitė S, Treigytė G, Krasovskaja N, Zaikova I, Navakauskas D, Utkus A, Navakauskienė R, Histone Modifications Pattern Associated With a State of Mesenchymal Stem Cell Cultures Derived From Amniotic Fluid of Normal and Fetus-Affected Gestations. J Cell Biochem. 2017 Nov;118(11):3744-3755. doi: 10.1002/jcb.26022. Epub 2017 May 30.
  29. Tautvydas Rančelis, Justas Arasimavičius, Laima Ambrozaitytė, Ingrida Kavaliauskienė, Ingrida Domarkienė, Dovilė Karčiauskaitė, Zita Aušrelė Kučinskienė, Vaidutis Kučinskas, Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing. Genet. Res., Camb. (2017), vol. 99, e6. DOI:10.1017/S0016672317000040.
  30. Urnikytė, Alina; Molytė, Alma; Kučinskas, Vaidutis. Recent effective population size estimated from segments of identity by descent in the Lithuanian population. Anthropological science. Tokyo : Anthropological Society of Nippon. ISSN 0918-7960. 2017, Advance Publication, p. 1-6. DOI: 10.1537/ase.170125.
  31. Aleksiūnienė, Beata; Matulevičiūtė, Rugilė; Matulevičienė, Aušra; Burnytė, Birutė; Krasovskaja, Natalija; Ambrozaitytė, Laima; Mikštienė, Violeta; Dirsė, Vaidas; Utkus, Algirdas; Kučinskas, Vaidutis. Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report. Medicine (Baltimore). – ISSN 0025-7974. – 2017, vol. 96, iss. 16, p. e6521. doi: 10.1097/MD.0000000000006521.
  32. E. Pranckevičienė, V. Kučinskas. How to manage large-scale collaborative genomics research projects? Book Review. European Journal of Human Genetics. – ISSN 1018-4813. – 2017, vol. 25, p. 656-657. DOI:10.1038/ejhg.2017.19
  33. Ž. Maldžienė, E. Preikšaitienė, S. Ignotienė, N. Kapitanova, A. Utkus, V. Kučinskas. A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay. Cytogenetic and Genome Research. – ISSN 1424-8581. – 2017 February 23. – First published online, p. 1-5. DOI: 10.1159/000456695. [Epub ahead of print]
  34. B. Tumienė, N. Voisin, E. Preikšaitienė, D. Petroška, J. Grikinienė, R. Samaitienė, A. Utkus, A. Reymond, V. Kučinskas. Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. European Journal of Medical Genetics. – ISSN 1769-7212. – 2017, vol. 60, no. 3, p. 154-158.
  35. N. Burokienė, I. Domarkienė, L. Ambrozaitytė, I. Uktverytė, R. Meškienė, D. Karčiauskaitė, V. Kasiulevičius, V. Šapoka, V. Kučinskas, Z. A. Kučinskienė. Classical rather than genetic risk factors account for high cardiovascular disease prevalence in Lithuania: A cross-sectional population study. Advances in medical sciences. – ISSN: 1896-1126. – 2017, Vol. 62, Iss. 1. p. 121-128. DOI: 10.1016/j.advms.2016.08.005.
  36. R. L. McLaughlin, D. Schijven, W. van Rheenen, K. R. van Eijk, M. O’Brien, Project MinE GWAS Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium [… V. Kučinskas, Z. Kučinskienė et al.]. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature communications. – ISSN: 2041-1723. – 2017, Vol. 8. art. no. 14774. DOI: 10.1038/ncomms14774.
  37. Papadimitriou, Ioannis; Lucia, Alejandro; Pitsiladis, Yannis P; Pushkarev, Vladimir P.; Dyatlov, Dmitry A.; Orekhov, Evgeniy F.; Artioli, Guilherme G.; Guilherme, João Paulo L. F.; Lancha Jr., Antonio H.; Ginevičienė, Valentina; Cieszczyk, Pawel; Maciejewska-Karlowska, Agnieszka; Sawczuk, Marek; Muniesa, Carlos A.; Kouvatsi, Anastasia; Massidda, Myosotis; Calo, Carla Maria; Garton, Fleur; Houweling, Peter J.; Wang, Guan; Austin, Krista; Druzhevskaya, Anastasiya M.; Astratenkova, Irina V.; Ahmetov, Ildus I.; Bishop, David J.; North, Kathryn N.; Eynon, Nir. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study. BMC Genomics. London : BioMed Central Ltd. ISSN 1471-2164. 2016, Vol. 17, Art. No. 285. DOI: 10.1186/s12864-016-2462-3.
  38. M. Bakšienė, E. Benušienė, A. Morkūnienė, L. Ambrozaitytė, A. Utkus, V. Kučinskas. A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. Balkan Journal of Medical Genetics. – ISSN 1311-0160. – 2016, vol. 19, no. 2, p. 95-100.
  39. Eglė Preikšaitienė, Birutė Tumienė, Živilė Maldžienė, Erinija Pranckevičienė, Aušra Morkūnienė, Algirdas Utkus, Vaidutis Kučinskas, Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. OPHTHALMIC GENETICS, 2016. DOI: 10.1080/13816810.2016.1227452.
  40. Barbara Franke, Jason L Stein, Stephan Ripke,... Schizophrenia Working Group of the Psychiatric Genomics Consortium, ENIGMA Consortium,... et al... [from Lithuania Vaidutis Kučinskas, Zita Aušrelė Kučinskienė]. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature neuroscience. New York : Nature Publishing Group, 2016, Vol. 19, No. 3. p. 420-431. ISSN: 1097-6256 ; DOI: 10.1038/nn.4228.
  41. Tim B. Bigdeli, Stephan Ripke, Silviu-Alin Bacanu, Sang Hong Lee, Naomi R. Wray, Pablo V. Gejman, Marcella Rietschel, Sven Cichon,… Ayman H. Fanous and Schizophrenia Working Group of the Psychiatric Genomics Consortium [from Lithuania Vaidutis Kučinskas, Zita Aušrelė Kučinskienė]. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. Hoboken : NJ : John Wiley & Sons : Inc, 2016, Vol. 171, Iss. 2. p. 276-289. ISSN: 1552-4841 ; DOI: 10.1002/ajmg.b.32402.
  42. Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh,.... Vytautas Kasiulevičius, Ludevit Kadaši, Vaidutis Kučinskas..... George P. Patrinos, A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLOS ONE | September 16, 2016, p. 1-19. ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0162866.
  43. Eglė Preikšaitienė, Vaidutis Kučinskas. Developmental gene regulatory networks in detail : book review. European journal of human genetics. London : Nature Publishing Group, 2016, published online ahead of print. p. 1. ISSN: 1018-4813 ; DOI: 10.1038/ejhg.2015.245.
  44. Matulevičienė Aušra, Meškienė Raimonda, Morkūnienė Aušra, Ambrozaitytė Laima, Meškauskas Raimundas, Garunkštienė Rasa, Drazdienė Nijolė, Utkus Algirdas, Kučinskas Vaidutis, Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy. Clinical Dysmorphology. Philadelphia : 2016, Vol. 25, Iss. 1. p. 7-11. ISSN: 0962-8827 ; DOI: 10.1097/MCD.0000000000000100. IF 0.608.
  45. Eglė Preikšaitienė, Eglė Benušienė, Aušra Matulevičienė, Kristina Grigalionienė, Algirdas Utkus, Vaidutis Kučinskas, SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings. American journal of medical genetics. Part A. New York : Wiley Periodicals, 2016, Vol. 170, no 3. p. 781-784. ISSN: 1552-4825 ; DOI: 10.1002/ajmg.a.37466. IF 2.159.
  46. George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, Voula Velissariou, Christopoulou Georgia, Ioannis Kallikas, Alicia Gonzalez-Linan, Eglė Benušienė.... Philippos C. Patsalis, Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13 and Fetal Sex. Clinical Chemistry 62:6 (2016), p.1-8.
  47. E. Preiksaitiene, E. Benušienė, Z. Ciuladaite, V. Šliužas, V. Mikštienė, V. Kučinskas. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement. Taiwanese Journal of Obstetrics & Gynecology. – ISSN 1028-4559. – 2016, vol. 55, no 3, p. 410-414. 
  48. Jana Sachwitz, Robert Meyer, György Fekete, Stephanie Spranger, Aušra Matulevičienė, Vaidutis Kučinskas, Alexia Bach, Andrea Luczay, Nadina Ortiz Brüchle, Katja Eggermann, Klaus Zerres, Miriam Elbracht and Thomas Eggermann, NSD1 duplication in Silver-Russell syndrome (SRS): Molecular karyotyping in patients with SRS features. Clin Genet. 2016 May 13. doi: 10.1111/cge.12803. [Epub ahead of print].
  49. Ginevičienė V, Jakaitienė A, Aksenov MO, Aksenova AV, Druzhevskaya AM, Astratenkova IV, Egorova ES, Gabdrakhmanova LJ, Tubelis L, Kučinskas V, Utkus A, Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes. Biology of Sport, Vol. 33 No3, 2016, p. 199-206. DOI: 10.5604/20831862.1201051.
  50. Inna Inashkina, Eriks Jankevics, Janis Stavusis, Inta Vasiljeva, Kristine Viksne, Ieva Micule, Jurgis Strautmanis, Maruta S. Naudina, Loreta Cimbalistienė, Vaidutis Kučinskas, Astrida Krumina, Algirdas Utkus, Birutė Burnytė, Ausra Matulevičienė, Baiba Lace, Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. BMC Musculoskeletal Disorders (2016) 17:200, DOI 10.1186/s12891-016-1058-z.
  51. A. Urnikytė, I. Domarkienė, S. Stoma, L. Ambrozaitytė, I. Uktverytė, R. Meškienė, V. Kasiulevičius, N. Burokienė, V. Kučinskas, CNV analysis in the Lithuanian population. BMC Genetics (2016) 17:64, DOI 10.1186/s12863-016-0373-6.
  52. Yannis P. Pitsiladis, Masashi Tanaka, Nir Eynon, Claude Bouchard, Kathryn N. North, Alun G. Williams, Malcolm Collins, X Colin N. Moran, Steven L. Britton, Noriyuki Fuku, Euan A. Ashley, Vassilis Klissouras, Alejandro Lucia, Ildus I. Ahmetov, Eco de Geus, Mohammed Alsayrafi, and Athlome Project Consortium (Valentina Ginevičienė, Audronė Jakaitienė, Vaidutis Kučinskas, Algirdas Utkus, Linas Tubelis, Kazys Milašius ir kt.), Athlome Project Consortium: a concerted effort to discover genomic and other “omic” markers of athletic performance. Physiological Genomics Published 1 March 2016, vol. 48 no. 3, 183-190 DOI: 10.1152/physiolgenomics.00105.2015.
  53. Skaistė Pečiulienė, Birutė Burnytė, Rymanta Gudaitienė, Skirmantė Rusonienė, Nijolė Drazdienė, Arūnas Liubšys, Algirdas Utkus, Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. Pediatric Rheumatology (2016) 14:19. DOI 10.1186/s12969-016-0081-9.
  54. Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann and Thomas Eggermann, Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndromelike phenotypes. BMC Medical Genetics (2016) 17:20. DOI: 10.1186/s12881-016-0280-8. Published: 11 March 2016.
  55. Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly, Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet 2016;0:1–16. doi:10.1136/jmedgenet-2015-103322.
  56. A. Haghighi, Z. Kavehmanesh, A. Haghighi, F. Salehzadeh, F. Santos-Simarro, L. Van Maldergem, L. Cimbalistiene, F. Collins, M. Chopra, S. Al-Sinani, S. Dastmalchian, D.C. de Silva, H. Bakhti, A. Garg and P. Hilbert, Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. Clin Genet 2016: 89: 434–441.
  57. Violeta Mikštienė, Audronė Jakaitienė, Jekaterina Byckova, Eglė Gradauskienė, Eglė Preikšaitienė, Birutė Burnytė, Birutė Tumienė, Aušra Matulevičienė, Laima Ambrozaitytė, Ingrida Uktverytė, Ingrida Domarkienė, Tautvydas Rančelis, Loreta Cimbalistienė, Eugenijus Lesinskas, Vaidutis Kučinskas, Algirdas Utkus, The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. BMC Genetics 2016 19;17(1):45. Epub 2016 Feb 19, doi: 10.1186/s12863-016-0354-9.
  58. Aswin Sekar, Allison R. Bialas, Heather de Rivera, Avery Davis, Timothy R. Hammond,Nolan Kamitaki, Katherine Tooley, Jessy Presumey, Matthew Baum, Vanessa Van Doren, Giulio Genovese, Samuel A. Rose, Robert E. Handsaker, Schizophrenia Working Group of the Psychiatric Genomics Consortium (V. Kučinskas, Z.A.Kučinskienė et. al.), Mark J. Daly, Michael C. Carroll, Beth Stevens& Steven A. McCarroll, Schizophrenia risk from complex variation of complement component 4. Nature 530, 177–183, (11 February 2016), doi: 10.1038/nature16549.
  59. Pliss L., Timša L., Rootsi S., Tambets K., Pelnena I., Zole E., Puzuka A., Sabule A., Rozane S., Lace B., Kučinskas V., Krumina A., Ranka R., Baumanis V., Y-Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern-Baltic Region. Annals of Human Genetics, 2015 Nov., 79(6), p.418-430. doi: 10.1111/ahg. 12130. Epub 2015 Sep 28.
  60. Po-Ru Loh, Gaurav Bhatia, Alexander Gusev, Hilary K Finucane, Brendan K Bulik-Sullivan, Samuela J Pollack,Schizophrenia Working Group of the Psychiatric Genomics Consortium, Teresa R de Candia,Sang Hong Lee, Naomi R Wray,Kenneth S Kendler, Michael C O'Donovan,Benjamin M Neale,Nick Patterson, Alkes L Price, Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis. Nat Genet. 2015 December; 47(12): 1385–1392. doi:10.1038/ng.3431
  61. Erinija Pranckevičiene, Tautvydas Rančelis, Aidas Pranculis, Vaidutis Kučinskas. Challenges in exome analysis by LifeScope and its alternative computational pipelines. BMC research notes. London, Biomed Central. ISSN 1756-0500. Vol. 8, no 1. 2015. art no 421 [1-15].
  62. Bjarni J. Vilhjalmsson, Jian Yang, Hilary K. Finucane, Alexander Gusev, Stephan Ripke, Giulio Genovese, Gaurav Bhatia, Ron Do, Tristan Hayeck, Hong-Hee Won, Kučinskas V. et al. (Schizophrenia Working Group of the Psychiatric Genomics Consortium). Modeling linkage disequilibrium increases accuracy of polygenic risk scores. The American Journal of Human Genetics 97, October 1, 2015, p. 576-592.
  63. Alena Kushniarevich, Olga Utevska, Marina Chuhryaeva,... et al [from Lithuania Ingrida Uktveryte, Vaidutis Kučinskas. Genetic heritage of the Balto-Slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal data / PLoS ONE. San Francisko, Public Library of Science. 2015, p 1-19.
  64. Mikštienė V, Songailienė J, Byckova J, Rutkauskienė G, Jasinskienė E, Verkauskienė R, Lesinskas E, Utkus A. Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. Am J Med Genet A. 2015 Feb 23. doi: 10.1002/ajmg.a.37015. [Epub ahead of print]
  65. J. Stavusis, I. Inashkina, E. Jankevics, I. Radovica, I. Micule, J. Strautmanis, M. S. Naudina, A. Utkus, B. Burnytė, B. Lace, CAV3 gene sequence variations: National Genome Database and clinics. Acta Neurol Scand: DOI: 10.1111/ane.12369. 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
  66. Čiuladaitė Ž., Burnytė B., Vansevičiūtė D., Dagytė E., Kučinskas V., Utkus A. Clinical, cytogenetic and molecular study of a case of ring chromosome 10. Mol Cytogenet [Internet]. 2015 Apr 21 [cited 2015 May 5]; Vol 8. no 29; 6 p. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411697/.
  67. Bulik-Sullivan B.K., Loh P.-R., Finucane H.K., Ripke S., Yang J., Patterson N., Daly M.J., Price A.L., Neale B.M. ... Kučinskas V. et al. (Schizophrenia Working Group of the Psychiatric Genomics Consortium). LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies. Nature Genetics. – 2015, vol. 47, p. 291–295.
  68. Preiksaitiene E., Caro A., Benušienė E., Oltra S., Orellana C., Morkūnienė A., et al. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. Am J Med Genet A [Internet]. 2015 Apr 21 [cited 2015 May 20]; vol. 21. 7 p. Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36999/abstract.
  69. Preikšaitienė E., Krasovskaja N., Utkus A., Kasnauskienė J., Meškienė R., Paulauskienė I., Valevičienė N. R., Kučinskas V., R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. Clin Dysmorphol, 2015 Jan; 24(1), p.7-12.
  70. Preikšaitienė E, Čiuladaitė Ž., Šliužas V., Benušienė E., Kučinskas V., Recurrent foetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement. Taiwanese Journal of Obstetrics & Gynecology (priimta spaudai, 2014).
  71. Alexander Gusev, S. Hong Lee, Gosia Trynka, Hilary Finucane, Bjarni J.,... Vaidutis Kučinskas, Zita Aušrelė Kučinskienė et. al., Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases. The American Journal of Human Genetics 95, p. 535–552, November 6, 2014.
  72. Živilė Čiuladaitė, Eglė Preikšaitienė, Algirdas Utkus, Vaidutis Kučinskas, Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion. Cytogenet Genome Res 2014; 144; p. 109-113. Publisched online: November 15, 2014.
  73. O. Liaugaudienė, E. Benušienė, I. Domarkienė, L. Ambrozaitytė, V. Kučinskas, X-linked ichthyosis: Differential diagnosis of low maternal oestriol level. Journal of Obstetrics & Gynaecology, November 2014, Vol. 34, No. 8 : Pages 737-739.
  74. Lazaridis I., Patterson N., Mittnik A., Renaud G., Mallick S., Kirsanow K.,….Kučinskas V., Uktverytė I. et al. Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature: international weekly journal of science, vol. 513, no. 7518, p. 409-413, ISSN 0028-0836 2014.
  75. Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T. R. Walters, Kai-How Farh,...Vaidutis Kučinskas et. al. (Schizophrenia Working Group of the Psychiatric Genomics Consortium), Biological insights from 108 schizophrenia-associated genetic loci. Nature, vol. 511, 24 July 2014, p. 421-427, ISSN : 0028-0836, EISSN : 1476-4687.
  76. Vaidas Dirsė, Birutė Burnytė, Eglė Gineikienė, Laimonas Griškevičius, Algirdas Utkus,
    A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation. Juornal of Genetics, Vol. 93, No. 2, August 2014.
  77. Valentina Ginevičienė, Audronė Jakaitienė, Aidas Pranculis, Kazys Milašius, Linas Tubelis, Algirdas Utkus, AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes. BMC Genetics 2014, published: 17 May 2014.
  78. Knappskog S., Gansmo L. B., Dibirova K., Metspalu A., Cybulski C., Peterlongo P.,...Kučinskas V., ... Dörk T., Balanovsky O., Lønning P. E., Population distribution and ancestry of the cancer protective MDM2 SNP 285 (rs117039649). Oncotarget, 2014, vol. 5, No. 18, p. 8223-8234. Online ISSN: 1949-2553
  79. Eglė Preikšaitienė, Alma Molytė, Juratė Kasnauskienė, Živilė Čiuladaitė, Algirdas Utkus, Philippos C. Patsalis, Vaidutis Kučinskas, Considering specific clinical features as evidence of pathogenic copy number variants. Journal of Applied Genetics, Published online: 18 February 2014, ISSN: 1234-1983 (Print) 2190-3883 (Online).
  80. Guillen-Navarro E., Ballesta-Martinez M. J., Valencia M., Bueno A. M., Martinez-Glez V., Lopez-Gonzalez V., Burnytė B., Utkus A., Lapunzina P., Ruiz-Perez V. L. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. American Journal of Medical Genetics Part A, Article first published online: 29 JAN 2014, p. 1-7.
  81. Valentina Ginevičienė, Audronė Jakaitienė, Linas Tubelis, Vaidutis Kučinskas, Variation in the ACE, PPARGC1A and PPARA genes in Lithuanian football players. European Journal of Sport Science, 2014, vol. 14, Suppl. 1, S289-295.
  82. Anna A. Kashevarova, Lyudmila P. Nazarenko, Nikolay A. Skryabin, Olga A. Salyukova, Nataliya N. Chechetkina, Ekaterina N. Tolmacheva, Elena A. Sazhenova, Pamela Magini, Claudio Graziano, Giovanni Romeo, Vaidutis Kučinskas, Igor N. Lebedev, Array CGH analysis of a cohort of Russian patients with intellectual disability. Gene, vol. 536, Iss. 1, 15 February 2014, p. 145–150.
  83. Poškus E., Mikalauskas S., Jotautas V., Žeromskas P., Poškus T., Strupas K., Samalavičius N. E., Lasinskas M., Sklepavičius A., Tamelis A., Saladžinskas Ž., Pavalkis D., Jakaitienė A., Smailytė G. (2013) The Pattern of Colorectal Cancer Surgery in Lithuania in 2005: Do Results Meet Expectations? Medicina (Kaunas); 49 (3), p.124-31.
  84. Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistienė, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva, Anna Tylki-Szymanska, Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene. Am J Med Genet A. 2013 Jun;161(6):1291-9.
  85. Jurecka, Agnieszka; Piotrowska, Ewa; Cimbalistienė, Loreta; et al., Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. MOLECULAR GENETICS AND METABOLISM Volume: 105 Issue: 2 Pages: 237-243 Published: FEB 2012.
  86. Tõnu Esko, Massimo Mezzavilla, Mari Nelis, Christelle Borel, Tadeusz Debniak, Eveliina Jakkula, Antonio Julia, Sena Karachanak, Andrey Khrunin, Peter Kisfali, Veronika Krulisova, Zita Aušrelė Kučinskienė, Vaidutis Kučinskas et. al., Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. European Journal of Human Genetics, (2013), 21, p. 659-665, doi:10.1038/ejhg.2012.229; published online 19 December 2012.
  87. Arūnas Valiulis, Iveta Skurvydienė, Valdonė Misevičienė, Jūratė Kasnauskienė, Laimutė Vaidelienė, Algirdas Utkus, Relevance of Nasal Potential Difference in Diagnosis of Cystic Fibrosis Among Children. Medicina, t. 49, nr. 4, 2013, p. 185-190, ISSN 1010-660X, eISSN 1648-9144.
  88. Jūratė Kasnauskienė, Živilė Čiuladaitė, Eglė Preikšaitienė, Algirdas Utkus, Agnė Pečiulytė, Vaidutis Kučinskas, A New Single Gene Deletion on 2q34: ERBB4 Is Associated With Intellectual Disability. American Journal of Medical Genetics part A, Vol. 161, Iss. 6, p.1487–1490, June 2013; published online: 30 APR 2013, DOI: 10.1002/ajmg.a.35911.
  89. Matulevičienė, Aušra, Preikšaitienė, Eglė, Linkevičienė, Laura, Radavičius, Marijus, Molytė, Alma, Utkus, Algirdas, Kučinskas, Vaidutis, Heterogeneity of Oral Clefts in Relation to Associated Congenital Anomalies. Medicina. 2013, t. 49, nr. 2, p. 61-66, ISSN 1010-660X, eISSN 1648-9144.
  90. E. Preikšaitienė, K. Männik, V. Dirsė, A. Utkus, Ž. Čiuladaitė, J. Kasnauskienė, A. Kurg, V. Kučinskas, A novel de novo 1.8 Mb microdeletion of 17q21.33 associatedwith intellectual disability and dysmorphic features. European Journal of Medical Genetics (2012)1-4 ISSN 1769-7212.
  91. Živilė Čiuladaitė, Aušra Matulevičienė, Aušra Bandanskytė, Andrius Brazaitis, Jūratė Kasnauskienė, Vaidutis Kučinskas, Familiar Distal Monosomy 5pl5.3-pter With Trisomy 12q24.2-qter Resulting in Neurodevelopmental Delay and Dysmorphic Features. Journal of Child Neurology, published online 22 January 2013.
  92. J. Kasnauskienė, L. Cimbalistienė, A. Utkus, Z. Čiuladaitė, E. Preikšaitienė, A. Pečiulytė, V. Kučinskas. Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis, Cytogenetic and Genome Research, vol. 139, No. 1., 2013, p. 52-58.
  93. Kučinskas V., Uktverytė I., Genetic Variation and Genomic Origin of Lithuanians. IFEH 12th World Congress on Environmental Health Vilnius, Lithuania 22-27may 2012, MEDIMOND, p.7-13, Printed by Ediografica Bologna (Italy), ISBN 978-88-7587-664-7.
  94. Isabel Mendizabal, Oscar Lao, Urko M. Marigorta, Andreas Wollstein, Leonor Gusmao, Vladimir Ferak, Mihai Ioana, Albena Jordanova, Radka Kaneva, Anastasia Kouvatsi, Vaidutis Kučinskas, Halyna Makukh, Andres Metspalu, Mihai G. Netea, Rosario de Pablo, Horolma Pamjav, Dragica Radojkovic, Sarah J.H. Rolleston, Jadranka Sertic, Milan Macek, David Comas, Manfred Kayser, Reconstructing the Population History of European Romani from Genome-wide Data, Current Biology, vol. 22, Issue 24, 18 December 2012, p. 2342–2349.
  95. Jūratė Kasnauskienė, Živilė Čiuladaitė, Eglė Preikšaitienė, Aušra Matulevičienė, Angelos Alexandrou, George Koumbaris, Carolina Sismani, Ingrida Pepalytė, Philippos C. Patsalis, Vaidutis Kučinskas, A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability? European Journal of Medical Genetics vol.55, No. 4, April 2012, p. 274-277, ISSN 1769-7212.
  96. Eglė Preikšaitienė, Jūratė Kasnauskienė, Živilė Čiuladaitė, Birutė Tumienė, Philippos C. Patsalis, Vaidutis Kučinskas. Clinical and molecular characterization of a second case of 7p22.1 microduplication, Am J Med Genet Part A Vol: 158A, Iss: 5, Pages: 1200-1203, Published: MAY 2012, ISSN: 1552-4825.
  97. Valentina Ginevičienė, Aidas Pranculis, Audronė Jakaitienė, Kazys Milašius, Vaidutis Kučinskas. Genetic Variation of the Human ACE and ACTN3 Genes and Their Association With Function. Medicina, (Kaunas) 2011, t.47, nr.5, p. 284-290, ISSN 1010-660X.
  98. Živilė Čiuladaitė, Jūratė Kasnauskienė, Loreta Cimbalistienė, Eglė Preikšaitienė, Philippos C.Patsalis, Vaidutis Kučinskas. Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity, J Appl Genetics, published online:20 September 2011.
  99. Vaidas Dirsė, Vytautas Šliužas, Živilė Čiuladaitė, Beata Aleksiūnienė, Vaidutis Kučinskas. Subtelomeric fluorescence in situ hybridization in clinical cytogenetics: results of analysis of Lithuanian patients, Biologija, Vol. 57, No. 1, p. 8–14, Lietuvos mokslų akademija, 2011, ISSN: 1392-0146.
  100. Jūratė Kasnauskienė, Loreta Cimbalistienė, Živilė Čiuladaitė, Eglė Preikšaitienė, Zita Aušrelė Kučinskienė, Joe A. Hettinger, Carolina Sismani, Philippos C.Patsalis, Vaidutis Kučinskas. De novo 5q35.5 duplication with clinical presentation of Sotos sindrome. Am J Med Genet Part A 9999, p.1–7, 2011.
  101. Tiit Nikopensius, Inga Kempa, Laima Ambrozaitytė, Triin Jagomägi, Mare Saag, Aušra Matulevičienė, Algirdas Utkus, Kaarel Krjutškov, Veronika Tammekivi, Linda Piekuse, Ilze Akota, Biruta Barkane, Astrida Krumina, Janis Klovins, Baiba Lace, Vaidutis Kučinskas, Andres Metspalu. Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. Birth Defects Research (Part A) 91:218_225 (2011).
  102. Ginevičienė V., Pranckevičienė E., Milašius K., Kučinskas V. Gene variants related to the power performance of the Lithuanian athletes. Central European Journal of Biology 2011;6(1), p.48–57, ISSN: 1895104X.
  103. Coppieters F., Casteels I., Meire F., De Jaegere S., Hooghe S., van Regemorter N., Van Esch H., Matuleviciene A., Nunes L., Meersschaut V., Walraedt S., Standaert L., Coucke P., Hoeben H., Kroes HY., Vande Walle J., de Ravel T., Leroy BP., De Baere E. and etc. Genetics Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes//Human Mutation, 2010, Vol., 31, p. 1709-1766.
  104. Skirton H, Lewis C, Kent A, Coviello DA, Bloch-Zupan A, Darpoux FC, Cornel M, DeLozier C, Farndon P, Goetz P, Hodgson S, Houge G, Hulten M, Kosztolanyi G, Kučinskas V, Ozcelik T, Sequeiros J, Soller M, Tranebjaerg L. Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur J Hum Genet, Sep;18(9), p. 972-7, 2010.
  105. Nikopensius, T., Jagomägi, T., Krjutškov, K., Tammekivi, V., Saag, M., Prane, I., Piekuse, L., Akota, I., Barkane, B., Krumina, A., Ambrozaitytė, L., Matulevičienė, A., Kučinskienė, Z.A., Lace, B., Kučinskas, V., Metspalu, A. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. Birth Defects Research Part A: Clinical and Molecular Teratology 88: p.748-756, 2010.
  106. Nikopensius, Tiit, Ambrozaitytė, Laima, Ludwig, Kerstin U., Birnbaum, Stefanie, Jagomägi, Triin, Saag, Mare, Matulevičienė, Aušra, Linkevičienė, Laura, Herms, Stefan, Knapp, Michael, Hoffmann, Per, Nöthen, Markus M., Metspalu, Andres, Kučinskas, Vaidutis, Mangold, Elisabeth. Replication of Novel Susceptibility Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on Chromosome 8q24 in Estonian and Lithuanian Patients American Journal of Medical Genetics Part A. 2009, vol. 149A, no. 11. ISSN 1552-4825 p. 2551-2553.
  107. Janavičius R., Pepalytė I., Kučinskas V. Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania. Breast cancer research and treatment. 2009, vol. 117, no 2. ISSN 0167-6806 p. 467-469.
  108. Nelis M., Esko T., Mägi R., Zimprich F., Zimprich A., Toncheva D., Karachanak S., Piskácková T., Balascák I., Peltonen L., Jakkula E., Rehnström K., Lathrop M., Heath S., Galan P., Schreiber S., Meitinger T., Pfeufer A., Wichmann H.E., Melegh B., Polgár N., Toniolo D., Gasparini P., D'Adamo P., Klovins J., Nikitina-Zake L., Kučinskas V., Metspalu A. Genetic Structure of Europeans: A View from the North–East. PLoS ONE. 2009, vol. 4, iss. 5. ISSN 1932-6203 p. e5472[1-10].
  109. Rossi, E., Messa, J., Gimelli, S., Maraschio, P., Ciccone, R., Stroppi, M., Riva, P., Perotta, C., Mattina, T., Baumer, A., Kučinskas, Vaidutis, Castellan, C., Schinzel, A., Zuffardi, O., Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation. Journal of medical genetics. 2008, vol. 45. ISSN 0022-2593 p. 147-154.
  110. Šliužas, Vytautas, Utkus, Algirdas, Kučinskas, Vaidutis, Recombinant chromosome 14 due to maternal pericentric inversion. Journal of applied genetics. 2008, vol. 49, no. 2. ISSN 1234-1983 p. 205-207.
  111. Šliužas, Vytautas, Čiuladaitė, Živilė, Kučinskas, Vaidutis. Diversity of human chromosome structural rearrangements identified at the Center for Medical Genetics in 2002–2007. Biologija. 2008, nr. 1 p. 27-32.
  112. Kasnauskienė, Jūratė, Cimbalistienė, Loreta, Kučinskas, Vaidutis. Predicting a Clinical/Biochemical Phenotype for PKU/MHP Patients with PAH Gene Mutations. Russian journal of genetics. 2008, vol. 44, no. 10. ISSN 1022-7954 p. 1212-1218.
  113. Kučinskas, Laimutis, Jeroch, Jolanta, Vitkauskienė, Asta, Sakalauskas, Romualdas, Petrenkienė, Vitalija, Kučinskas, Vaidutis, Naginienė, Rita, Schmidt, Hartmut, Kupčinskas, Limas. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson’s disease. World journal of gastroenterology. 2008, vol. 14, iss. 38 p. 5876-5879.
  114. Morkūnienė A., Steponavičiūtė D., Utkus A., Kučinskas V. Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania. JOURNAL OF APPLIED GENETICS 2007,vol. 48 Iss. 1 p. 89-91, ISSN 1234-1983.
  115. Morkūnienė, Aušra, Steponavičiūtė, Danguolė, Ambrozaitytė, Laima, Utkus, Algirdas, Linkevičienė, Laura, Kučinskas, Vaidutis, Are TGFA, TGFB3, GABRB3, RARA and BCL3 loci associated with nonsyndromic orofacial clefts? A Lithuanian study. Biologija. 2007, nr. 1. ISSN 1392-0146 p. 1-6.
  116. Cimbalistiene L., Lehnert W., Huoponen K., Kučinskas V. First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. JOURNAL OF APPLIED GENETICS, 2007, vol. 48, iss. 3, p. 277-280 ISSN 1234-1983.
  117. Giannattasio S., Bobba A., Jurgelevičius V., Vacca R.A., Lattanzio P., Serafina R.S., Utkus A., Kučinskas V., Marra E. Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols. Genetic Testing. 2006, vol. 10, No. 3, p. 169-173, ISSN 1090-6576.
  118. Ploski R, Butrimiene I, Kaminska E, Valiukiene K, Sliwinska P, Kubasiewicz E, Kozakiewicz A, Smerdel A, Kučinskas V, Jaworski J, Jastrzebska E, Forre O, Venalis A, Pazdur J. Rheumatoid arthritis in Poland and Lithuania: different clinical course and HLA associations despite similar genetic background. Ann Rheum Dis. 2005, vol. 64, No. 1, p. 165-166. ISSN 0003-4967.
  119. Wiesel A., Queisser- Luft A., Clementi M., Bianca S., Stooll C. and the EUROSCAN Study Group: De Vigan C., Vodovar V., Alembik Y., Dott b., Froster U. G., Tenconi R., Benedicenti F., Ettore G., Caraiti E., Bianchi F., Kučinskas V., Utkus A., De Walle H. E. K., Zandwijken G. R. J., Salvador J., Lladonosa A., Garcia-Minaur S., Arnguren G., Baena N., Guitart m., Addor M. C., Pescia G., Oshavska T., Gordienko I., Boyd P. A., Wellesley D. G., Haeusler M., Barisic I., Matejic R., Garne E. Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Anglysis of 709,030 Births in 12 European Countries // European Journal of Medical Genetics. 2005, vol. 48, Issue 2, p. 131-144.
  120. Jusiene R., Kučinskas V. Familial variables as predictors of psychological maladjustment in Lithuanian children with phenylketonuria. Med Sci Monit. 2004 Mar;10(3):p. 102-7. ISSN 1234-1010.
  121. Kasperavičiūtė D., Kučinskas V., Stoneking M. Y chromosome and mitochondrial DNA variation in Lithuanians. Ann Hum Genet. 2004, vol. 68, Pt 5, p. 438-452. ISSN 0003-4800.
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