VU Medicinos fakulteto autoriaus 'Loreta Cimbalistienė' publikacijų sąrašas

2023
1 Burnytė, Birutė; Asadauskaitė, Greta; Morkūnienė, Aušra; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Clinical and genetic spectrum in a cohort of Lithuanian patients with limb girdle muscular dystrophy // ASHG annual meeting 2023, Washington, November 1-5 : [abstracts] : The American Society of Human Genetics. 2023, abstract no. P3422, p. [1]. Prieiga per internetą: <https://eppro01.ativ.me/src/EventPilot/php/express/web/planner.php?id=ASHG23>.

2022
1 Petraitytė, Gunda; Mikštienė, Violeta; Siavrienė, Evelina; Cimbalistienė, Loreta; Maldžienė, Živilė; Rančelis, Tautvydas; Vaitėnienė, Evelina Marija; Ambrozaitytė, Laima; Dapkūnas, Justas; Dzindzalieta, Ramūnas; Pranckevičienė, Erinija; Kučinskas, Vaidutis; Utkus, Algirdas; Preikšaitienė, Eglė. Donor splice site variant in SLC9A6 causes Christianson syndrome in a Lithuanian family: a case report // Medicina. Kaunas; Basel : LSMU ; MDPI AG. ISSN 1010-660X. eISSN 1648-9144. 2022, vol. 58, no. 3, art. no. 351, p. [1-11]. DOI: 10.3390/medicina58030351. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.600; AIF: 6.700; Q3 (2022 InCities JCR SCIE)]
2 Laukienė, Romena; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas; Tamošiūnas, Algirdas Edvardas. Diagnostic significance of FNAB miRNA expression in papillary thyroid carcinoma // Diagnostics. Basel : MDPI. eISSN 2075-4418. 2022, vol. 12, art. no. 1384, p. [1-14]. DOI: 10.3390/diagnostics12061384. [DB: Science Citation Index Expanded (Web of Science), Scopus]
3 Kučinskas, Vaidutis; Preikšaitienė, Eglė; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas. Genomo persitvarkymai, esant įgimtiems centrinės nervų sistemos raidos sutrikimams: kilmė, genominiai mechanizmai, funkcinės ir klinikinės pasekmės. Darbų apžvalga = Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2022, t. 26, Nr. 1, p. 15-26. DOI: 10.15388/NS.2022.26.3. [DB: Academic Search Ultimate]
4 Laukienė, Romena; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Tamošiūnas, Algirdas Edvardas; Sytnikova, Viktorija. miRNR reikšmė papilinės skydliaukės karcinomos metastazėms kaklo limfmazgiuose diagnozuoti = The role of miRNA in papillary thyroid carcinoma metastases in cervical lymph nodes diagnosis // Laboratorinė medicina. Vilnius : Lietuvos laboratorinës medicinos draugija. ISSN 1392-6470. 2022, t. 24, Nr. 2, p. 63-68. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/1074/2022>. [DB: Index Copernicus]
5 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Utkus, Algirdas. Novel SMARCA4 mutation identified in a patient with a mild phenotype of Coffin-Siris syndrome // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P11.116.B, p. 364. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]

2021
1 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Utkus, Algirdas. Novel SMARCA4 mutation identified in a patient with a mild phenotype of Coffin-Siris syndrome // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/1139>.
2 Laukienė, Romena; Jakubkevičius, Valentinas; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas. Dysregulation of microRNAs as the risk factor of lymph node metastasis in papillary thyroid carcinoma: Systematic review // Endokrynologia Polska. Gdansk : Via Medica. ISSN 0423-104X. eISSN 2299-8306. 2021, vol. 72, no. 2, p. 145-152. DOI: 10.5603/EP.A2021.0010. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 1.569; AIF: 5.717; Q4 (2021 InCities JCR SCIE)]
3 den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J.M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C.; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C.; Stegmann, Alexander P.A.; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Schrier Vergano, Samantha A.; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E.L.M. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction // American journal of human genetics. Cambridge, MA : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2021, vol. 108, iss. 2, p. 346-356. DOI: 10.1016/j.ajhg.2021.01.007. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 11.043; AIF: 4.682; Q1 (2021 InCities JCR SCIE)]
4 Petraitytė, Gunda; Šiaurytė, Kamilė; Mikštienė, Violeta; Cimbalistienė, Loreta; Kriaučiūnienė, Dovilė; Matulevičienė, Aušra; Utkus, Algirdas; Preikšaitienė, Eglė. A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report // BMC endocrine disorders. London : BMC. eISSN 1472-6823. 2021, vol. 21, art. no. 71, p. [1-6]. DOI: 10.1186/s12902-021-00741-6. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase, PubMed Central, ProQuest Central, Dimensions]

2020
1 Burnytė, Birutė; Morkūnienė, Aušra; Grigalionienė, Kristina; Ambrozaitytė, Laima; Bunevičiūtė, Ramunė; Vaitkevičius, Arūnas; Preikšaitienė, Eglė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Novel HINT1 variant identified in Lithuanian patients with autosomal recessive axonal neuropathy with neuromyotonia // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.45.A, p. 440-441. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
2 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.38.C, p. 437-438. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
3 Vaitėnienė, Evelina Marija; Cimbalistienė, Loreta; Žukauskaitė, Gabrielė; Utkus, Algirdas. Novel variant in the EZH2 gene causing Weaver syndrome // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. E-P04.55, p. 842-843. DOI: 10.1038/s41431-020-00741-5. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
4 Vaitėnienė, Evelina Marija; Cimbalistienė, Loreta; Žukauskaitė, Gabrielė; Utkus, Algirdas. Novel variant in the EZH2 gene causing Weaver syndrome // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. E-P04.55, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/2461>.
5 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P10.38.C, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/1187> [žiūrėta 2020-10-20].
6 Burnytė, Birutė; Morkūnienė, Aušra; Grigalionienė, Kristina; Ambrozaitytė, Laima; Bunevičiūtė, Ramunė; Vaitkevičius, Arūnas; Preikšaitienė, Eglė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Novel HINT1 variant identified in Lithuanian patients with autosomal recessive axonal neuropathy with neuromyotonia // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P10.45.A, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/1194>.

2019
1 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Cimbalistienė, Loreta; Tumienė, Birutė; Preikšaitienė, Eglė; Bikauskaitė-Valčiukė, Liucija; Maldžienė, Živilė; Dagytė, Evelina; Aleksiūnienė, Beata; Matulevičienė, Aušra; Utkus, Algirdas. Wolf-Hirschhorn syndrome: clinical and genetic data analysis of Lithuanian patients // European journal of human genetics: vol. 27, suppl. 2: Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1896. DOI: 10.1038/s41431-019-0493-3. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
2 Blažytė, Evelina Marija; Šiaurytė, Kamilė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Aleksiūnienė, B.; Burnytė, Birutė; Preikšaitienė, Eglė; Dagytė, Evelina; Tumienė, Birutė; Mikštienė, Violeta; Benušienė, Eglė; Krasovskaja, Natalija; Cimbalistienė, Loreta; Utkus, Algirdas. Genotype-phenotype analysis in 22q11.2 deletion/duplication groups // European journal of human genetics: vol. 27, suppl. 2: abstracts from the 52nd European Society of Human Genetics (ESHG) Conference. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1869-1870. DOI: 10.1038/s41431-019-0493-3. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
3 Matulevičienė, Aušra; Šiaurytė, Kamilė; Danelienė, Eglė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated cases of oculodentodigital dysplasia in Lithuanian cohort // Thirtieth European meeting on dysmorphology, 11-13 September 2019, Le Bischenberg : general program. 2019, p. [1].
4 Matulevičienė, Aušra; Šiaurytė, Kamilė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated Lithuanian cases of oculodentodigital dysplasia: phenotypic analysis and comparison to the literature // European journal of human genetics: vol. 27, suppl. 1: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. P11.067C, p. 372-373. DOI: 10.1038/s41431-019-0404-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
5 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, p. 912. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]

2018
1 Gueneau, Lucie; Fish, Richard J.; Shamseldin, Hanan E.; Voisin, Norine; Tran Mau-Them, Frederic; Preikšaitienė, Eglė; Monroe, Glen R.; Lai, Angeline; Putoux, Audrey; Allias, Fabienne; Ambusaidi, Qamariya; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Delafontaine, Julien; Guex, Nicolas; Hashem, Mais; Kurdi, Wesam; Jamuar, Saumya Shekhar; Ying, Lim J.; Bonnard, Carine; Pippucci, Tommaso; Pradervand, Sylvain; Roechert, Bernd; van Hasselt, Peter M.; Wiederkehr, Michael; Wright, Caroline F.; Xenarios, Ioannis; van Haaften, Gijs; Shaw-Smith, Charles; Schindewolf, Erica M.; Neerman-Arbez, Marguerite; Sanlaville, Damien; Lesca, Gaetan; Guibaud, Laurent; Reversade, Bruno; Chelly, Jamel; Kučinskas, Vaidutis; Alkuraya, Fowzan S.; Reymond, Alexandre. KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis // The American journal of human genetics : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2018, Vol. 102, p. 116-132. DOI: 10.1016/j.ajhg.2017.12.002. [DB: Science Citation Index Expanded (Web of Science), Scopus, Academic Search Premier, Chemical abstracts, Embase, MEDLINE] [IF: 9.924; AIF: 3.940; Q1 (2018 InCities JCR SCIE)]
2 Braždžiūnaitė, Deimantė; Cimbalistienė, Loreta; Ambrozaitytė, Laima; Utkus, Algirdas. Early puberty in Xp11.22p23 microduplication syndrome // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1(77), p. 115.
3 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. Genomics of congenital / hereditary hearing loss: Influence to pathogenesis and phenotypic manifestation in the Lithuanian population // Laboratorinë medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S31. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
4 Braždžiūnaitė, Deimantė; Laimutė, Rita; Aleksiūnienė, Beata; Dagytė, Evelina; Ambrozaitytė, Laima; Benušienė, Eglė; Cimbalistienė, Loreta; Utkus, Algirdas. Molecular karyotyping: clinical utility and practice // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 115. [DB: Index Copernicus]
5 Strupaitė, Rasa; Ambrozaitytė, Laima; Meškienė, Raimonda; Cimbalistienė, Loreta; Strupaitė-Šakalienė, Ieva; Utkus, Algirdas. Overview of the Lithuanian retinitis pigmentosa group // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 117.
6 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P04.05, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4323> [žiūrėta 2018-07-25].
7 Matulevičienė, Aušra; Šiaurytė, Kamilė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated Lithuanian cases of oculodentodigital dysplasia: phenotypic analysis and comparison to the literature // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. P11.067C / C, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/2487> [žiūrėta 2018-07-26].
8 Burnytė, Birutė; Grigalionienė, Kristina; Vaitkevičius, Arūnas; Petroška, Donatas; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Utkus, Algirdas. Phenotypic heterogeneity in three patients with M.3243A>G mutation // Journal of neuromuscular diseases: 15th international congress on neuromuscular diseases, July 6 - 10, 2018 Vienna, Austria. Amsterdam : IOS Press. ISSN 2214-3599. eISSN 2214-3602. 2018, vol. 5, suppl. 1, p. 206. DOI: 10.3233/JND-189001. [DB: Scopus, PubMed, Embase]
9 Strupaitė, Rasa; Ambrozaitytė, Laima; Meškienė, Raimonda; Cimbalistienė, Loreta; Strupaitė-Šakalienė, Ieva; Utkus, Algirdas. Clinical heterogeneity of the Lithuanian retinitis pigmentosa group // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademijos leidykla. ISSN 1392-0138. eISSN 2029-4174. 2018, vol. 25, suppl. 1, p. 41-42. Prieiga per internetą: <http://www.lmaleidykla.lt/ojs/public/journals/1/AML2018priedas.pdf> [žiūrėta 2018-09-17]. [DB: PubMed, Academic Search Complete, Index Academicus, Index Copernicus]
10 Burnytė, Birutė; Grigalionienė, Kristina; Cimbalistienė, Loreta; Vaitkevičius, Arūnas; Petroška, Donatas; Kučinskas, Vaidutis; Utkus, Algirdas. Phenotypic spectrum of patients harbouring the m.3243A>G mutation // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. eISSN 1573-2665. 2018, vol. 41, suppl. 1, p. S159. DOI: 10.1007/s10545-018-0233-9. [DB: CAB Abstracts, MEDLINE, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 3.757; Q1 (2018 InCities JCR SCIE)]
11 Vaišvilas, Mantas; Dirsė, Vaidas; Aleksiūnienė, Beata; Tamulienė, Indrė; Cimbalistienė, Loreta; Utkus, Algirdas; Rascon, Jelena. Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication // Balkan journal of medical genetics. Scopje : Macedonian Academy of Sciences and Arts. ISSN 1311-0160. 2018, vol. 21, iss. 1, p. 87-91. DOI: 10.2478/bjmg-2018-0002. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.769; AIF: 3.940; Q4 (2018 InCities JCR SCIE)]
12 Strupaitė, Rasa; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Ašoklis, Rimvydas Stanislovas; Utkus, Algirdas. X-linked juvenile retinoschisis: phenotypic and genetic characterization // International journal of ophthalmology. Xi'an : IJO Press. ISSN 2222-3959. eISSN 2227-4898. 2018, vol. 11, iss. 11, p. 1875-1878. DOI: 10.18240/ijo.2018.11.22. [DB: DOAJ, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.189; AIF: 2.551; Q4 (2018 InCities JCR SCIE)]
13 Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Praninskienė, Rūta; Ambrozaitytė, Laima; Utkus, Algirdas. Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene // European journal of human genetics: Abstracts from the 50th European Society of human genetics conference: posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, suppl., art. no. P10.35C, p. 437-438. DOI: 10.1038/s41431-018-0247-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]

2017
1 Stavusis, Janis; Inashkina, Inna; Pelnena, Dita; Micule, Ieva; Strautmanis, Jurgis; Naudina, Maruta, S.; Krumina, Astrida; Lace, Baiba; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Utkus, Algirdas; Burnytė, Birutė; Matulevičienė, Aušra. Limb-Girdle muscular dystrophies - the current state in Latvia and Lithuania // 14th Conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : program and abstracts / Baltic Child Neurology Association (BCNA). Riga : Baltic Child Neurology Association (BCNA). 2017, p. 49.
2 Cimbalistienė, Loreta; Burnytė, Birutė; Černiauskienė, Vilija; Morkūnienė, Aušra; Ambrozaitytė, Laima; Janavičius, Ramūnas; Utkus, Algirdas. Novel hemizygous mutation of TAZ gene in a boy with atypical Barth syndrome // Journal of Inborn Errors of Metabolism and Screening. Thousand Oaks, CA : Sage Publications Ltd. ISSN 2326-4098. eISSN 2326-4594. 2017, Vol. 5, p. 242. DOI: 10.1177/2326409817722292. [DB: DOAJ]
3 Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Praninskienė, Rūta; Ambrozaitytė, Laima; Utkus, Algirdas. Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. P10.35C. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=2d379845-aecd-4ea0-a85f-876226664d8d&cKey=b379bbc1-abdf-4fb5-9505-1d418bb8a5ec&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
4 Gueneau, L.; Fish, R.; Shamseddin, H.; Voisin, N.; Tran Mau-Them, F.; Preikšaitienė, Eglė; Monroe, G.; Allias, F.; Ambosaidi, Q.; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Delafontaine, J.; Guex, N.; Hashem, M.; Kučinskas, Vaidutis. KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no C20.4 [p. 1]. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=0fb9a463-9c2b-4c02-a57f-4b81921261b7&cKey=12027f35-dcba-49a4-bcfd-38f9c6dedde1&mKey=%7b15A3630E-7769-4D64-A80A-47F190AC2F4F%7d> [žiūrėta 2017-10-03].
5 Kučinskas, Vaidutis; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Strupaitė, Rasa; Ašoklis, Rimvydas Stanislovas; Utkus, Algirdas. Novel RS1 gene mutations of X-linked retinoschysis Lithuanian patients // American Society of Human Genetics 67th Annual Meeting, October 17-21, 2017, Orlando, Florida : poster abstracts. Rockville : ASHG. 2017, Abstract 1110F; p. 370. Prieiga per internetą: <https://www.ashg.org/2017meeting/pdf/ASHG-2017_Poster-Abstracts.pdf> [žiūrėta 2017-11-09].

2016
1 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Gradauskienė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Uktverytė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population // BMC genetics. London : BioMed Central Ltd. ISSN 1471-2156. 2016, Vol. 17, p. art. no 45 [1-12]. DOI: 10.1186/s12863-016-0354-9. [DB: Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
2 Montaño, Adriana M; Ngu Lock-Hock, Ngu; Steiner, Robert D; Graham, Brett H; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Çoker, Mahmut; Bartholomew, Dennis; Sands, Mark S; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K; Ezgü, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E.; Bhattacharya, Kaustuv; Franco, Jose; White, Klane K.; Mitchell, Grant A; Cimbalistienė, Loreta; Holtz, Max; Sly, William S. Clinical course of sly syndrome (mucopolysaccharidosis type VII) // Journal of medical genetics. London : BMJ Publishing group. ISSN 0022-2593. eISSN 1468-6244. 2016, vol. 53, iss. 6, p. 403-418. DOI: 10.1136/jmedgenet-2015-103322. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase] [IF: 5.451; AIF: 4.064; Q1 (2016 InCities JCR SCIE)]
3 Haghighi, A.; Kavehmanesh, Z.; Haghighie, A.; Salehzadeh, F.; Santos-Simarro, F.; Van Maldergem, L.; Cimbalistienė, Loreta; Collins, F.; Chopra, M.; Al-Sinani, S.; Dastmalchian, S.; de Silva, D.C.; Bakhti, H.; Garg, A.; Hilbert, P. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum // Clinical genetics. Hoboken, NL : Wiley-Blackwell Publishing, Inc. ISSN 0009-9163. eISSN 1399-0004. 2016, Vol. 89, Iss. 4, p. 434-441. DOI: 10.1111/cge.12623. [DB: Science Citation Index Expanded (Web of Science), Current Contents, BIOSIS Previews, ProQuest Central, PubMed, Academic OneFile, Scopus, Biobase, TOC Premier, Academic Search Premier, Academic Search Complete, CABI Abstracts Databases] [IF: 3.326; AIF: 4.064; Q2 (2016 InCities JCR SCIE)]
4 Inashkina, Inna; Jankevics, Eriks; Stavusis, Janis; Vasiljeva, Inta; Viksne, Kristine; Micule, Ieva; Strautmanis, Jurgis; Naudina, Maruta S.; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Krumina, Astrida; Utkus, Algirdas; Burnytė, Birutė; Matulevičienė, Aušra; Lace, Baiba. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies // BMC Musculoskeletal Disorders. London : BioMed Central Ltd. ISSN 1471-2474. 2016, Vol. 17, Art. No. 200. DOI: 10.1186/s12891-016-1058-z. [DB: CAB Abstracts, Current Contents, CAS (nenaudotinas), MEDLINE, PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.739; AIF: 3.110; Q2 (2016 InCities JCR SCIE)]
5 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Gradauskienė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population // Evoliucinė medicina: šiuolakinių sveikatos problemų evoliuciniai mechanizmai ir dėsningumai = Evolutionary medicine: pre-existing mechanisms and patterns of current health issues : trečioji tarptautinė konferencija, 2016 m. birželio mėn. 14-19 d. Vilnius : Vilniaus universitetas, 2016. ISBN 9786094597206. p. 65.
6 Cimbalistienė, Loreta; Burnytė, Birutė; Songailienė, Jurgita; Urbonas, Vaidotas; Grabhorn, Enke; Hempel, Maja; Santer, Rene; Haack, Tobias; Prokisch, Holger. Mitochondrial infantile liver disease due to TRMU gene mutations: two cases with different outcome // Journal of inherited metabolic disease,. Dordrecht : Springer. ISSN 0141-8955. 2016, 39, supplement 1, p. S157. DOI: 10.1007/s10545-016-9969-2. [DB: Embase, MEDLINE, TOC Premier, CSA (nenaudotinas), CAB Abstracts, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.970; AIF: 3.746; Q1 (2016 InCities JCR SCIE)]
7 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Dirsė, Vaidas; Gineikienė, Eglė; Marcinkutė, Rūta; Utkus, Algirdas. De novo 15q26.2q26.3 duplication and 15q26.3 deletion in a patient with an anomalous parietal sutures // European journal of human genetics: The European Human Genetics Conference, 2016, May 21-24, Barcelona, Spain : abstracts book. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-suppl. 1, p. 452-453. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
8 Preikšaitienė, Eglė; Ambrozaitytė, Laima; Maldžienė, Živilė; Morkūnienė, Aušra; Cimbalistienė, Loreta; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis. Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies = Intelektinės negalios genetinių priežasčių nustatymas naudojant viso genomo analizės molekulines technologijas // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. eISSN 2029-4174. 2016, Vol. 23, no 2, p. 73-85. DOI: 10.6001/actamedica.v23i2.3324. [DB: Index Copernicus, TOC Premier, Current Abstracts]
9 Ambrozaitytė, Laima; Burnytė, Birutė; Cimbalistienė, Loreta; Tumienė, Birutė; Utkus, Algirdas; Kavaliauskienė, Ingrida; Rančelis, Tautvydas; Kučinskas, Vaidutis. GNPTAB gene mutations in the Lithuanian mucolipidosis II and II/III patients // American Society of Human Genetics 66th Annual Meeting, October 18–22, 2016, Vancouver, Canada : poster abstracts. Vancouver : ASHG. 2016, p. 1449.

2015
1 Burnytė, Birutė; Pečiulienė, Skaistė; Gudaitienė, Rymanta; Rusonienė, Skirmantė; Songailienė, Jurgita; Liubšys, Arūnas; Cimbalistienė, Loreta; Drazdienė, Nijolė. Importance of early diagnosis and start of treatment in Mevalonate Kinase Deficiency (MKD) patients // Journal of inherited metabolic disease: SSIEM 2015: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France,1-4 September 2015. Dordrecht : Springer. ISSN 0141-8955. 2015, Vol. 38, iss. 1, Supplement, p. 334. DOI: 10.1007/s10545-015-9877-x. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.541; AIF: 4.066; Q2 (2015 InCities JCR SCIE)]
2 Voisin, Norine; Ambrozaitytė, Laima; Morkūnienė, Aušra; Gueneau, Lucie; Männik, Katrin; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pranckevičienė, Erinija; Rančelis, Tautvydas; Cimbalistienė, Loreta; Guex, Nicolas; Kučinskas, Vaidutis; Reymond, Alexandre. DCHS2, a novel autosomal recessive cause of Van Maldergem Syndrome // 65th Annual Meeting of The American Society of Human Genetics, October 6-10, 2015, Baltimore MD : poster abstracts. Baltimore : The American Society of Human Genetics. 2015, p. 1080. Prieiga per internetą: <http://www.ashg.org/2015meeting/pdf/57715_Posters.pdf> [žiūrėta 2015-10-13].
3 Bumbulienė, Žana; Cimbalistienė, Loreta; Čerkauskienė, Rimantė; Daugėlavičienė, Valentina; Drazdienė, Nijolė; Dumčius, Sigitas; Ėmužytė, Regina; Grikinienė, Jurgita; Jankauskienė, Augustina; Kemežys, Robertas; Kinčinienė, Odeta; Kleinotienė, Gražina; Lesinskienė, Sigita; Martinkienė, Rasa; Mikulėnaitė, Laima; Narkevičiūtė, Irena; Nemanienė, Rolanda; Panavienė, Violeta Vladislava; Praninskienė, Rūta; Radžiūnienė, Violeta; Radžiūnas, Aivaras; Ragelienė, Lina; Raugalė, Algimantas; Rudzevičienė, Odilija; Rusonienė, Skirmantė; Rutkauskaitė, Vilma; Stankevičienė, Sigita; Sučilienė, Elena; Songailienė, Jurgita; Šaferienė, Indrė; Šaulytė Trakymienė, Sonata; Tamulienė, Indrė; Urbonas, Vaidotas; Usonis, Vytautas; Vankevičienė, Ramunė; Žilinskaitė, Virginija. Pediatrijos praktikos vadovas : leidinys skirtas medicinos specialistams, medicinos studijų studentams. 2-oji laida. Vilnius : "Baltijos idėjų grupė" ir partneriai, 2015. 751 p. ISBN 9789955974253.
4 Ambrozaitytė, Laima; Morkūnienė, Aušra; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pranckevičienė, Erinija; Rančelis, Tautvydas; Cimbalistienė, Loreta; Gueneau, Lucie; Männik, Katrin ; Voisin, Norine; Reymond, Alexandre ; Kučinskas, Vaidutis. UNIGENE: Familial intellectual disability in Lithuanian patients // European journal of human genetics: European human genetics conference joint with the British Society of Genetics Medicine: June 6 – 9, 2015, Glasgow, Scotland, United Kingdom Abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 157. [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]

2014
1 Cimbalistienė, Loreta; Kliukaitė, Eglė. Fenilketonurija ir jos dietinis gydymas : metodinė mokomoji priemonė. Antrasis leidimas. Vilnius : UAB "Vaistų žinios", 2014. 56 p. ISBN 9789955884750.
2 Jurecka, Agnieshka; Zakharova, Ekaterina; Cimbalistienė, Loreta; Gusina, Nina; Malinova, Vera; Róźdźyńska-Swiątkowska, Agnieszka; Golda, Adam; Kulpanovich, Anna; Kaldenovna Abdilova, Gulnara; Voskoboeva, Elena; Tylki-Szymanska, Anna. Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe // Pediatrics international. Richmond : Wiley-Blackwell Publishing Asia. ISSN 1328-8067. 2014, Vol. 56, no 4, p. 520-525. DOI: 10.1111/ped.12281. [DB: Embase, Scopus, MEDLINE, CABI Abstracts Databases, EBSCOHost (nenaudotinas), Science Citation Index Expanded (Web of Science)] [IF: 0.730; AIF: 1.954; Q4 (2014 InCities JCR SCIE)]
3 Bumbulienė, Žana; Cimbalistienė, Loreta; Čerkauskienė, Rimantė; Daugelavičienė, Valentina; Drazdienė, Nijolė; Dumčius, Sigitas; Ėmužytė, Regina; Grikinienė, Jurgita; Jankauskienė, Augustina; Kemežys, Robertas; Kinčinienė, Odeta; Kleinotienė, Gražina; Lesinskienė, Sigita; Martinkienė, Rasa; Mikulėnaitė, Laima; Narkevičiūtė, Irena; Nemanienė, Rolanda; Panavienė, Violeta Vladislava; Praninskienė, Rūta; Radžiūnienė, Violeta; Radžiūnas, Aivaras; Ragelienė, Lina; Raugalė, Algimantas; Rudzevičienė, Odilija; Rusonienė, Skirmantė; Rutkauskaitė, Vilma; Stankevičienė, Sigita; Sučilienė, Elena; Songailienė, Jurgita; Šaferienė, Indrė; Šaulytė Trakymienė, Sonata; Tamulienė, Indrė; Urbonas, Vaidotas; Usonis, Vytautas; Vankevičienė, Ramunė; Žilinskaitė, Virginija. Pediatrijos praktikos vadovas : leidinys skirtas medicinos specialistams, medicinos studijų studentams. Antroji laida. Vilnius : UAB "Baltijos idėjų grupė" ir partneriai, 2014. 750 p. ISBN 9789955974253.
4 Utkus, Algirdas; Cimbalistienė, Loreta. Sindromologija II / Algirdas Utkus, Loreta Cimbalistienė. Vilnius : Vilniaus universiteto leidykla, 2014. 134 p. ISBN 9786094171079.

2013
1 Kazakevičiūtė, Ina; Lesinskienė, Sigita; Cimbalistienė, Loreta; Karalienė, Virginija. Fenilketonurijos neuropsichologiniai / psichiatriniai aspektai ir tėvų reakcijos į paveldimąją ligą ypatumai = : Neuropsychological / psychiatric aspects of phenylketonuria and peculiarities of parents reactions to the genetic diagnosis // Pediatrija : žurnalas pediatrams ir šeimos gydytojams / Vilniaus universiteto Vaikų ligų klinika, Lietuvos vaikų kardiologų draugija, Vilniaus pediatrų draugija. ISSN 1648-4630. 2013, nr. 2-3, p. 82-91.
2 Liaugaudienė, Olga; Cimbalistienė, Loreta; Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Preikšaitienė, Eglė; Kučinskas, Vaidutis. New critical region for recently defined 4q21 microdeletion syndrome // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 89. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
3 Cimbalistienė, Loreta; Liaugaudienė, Olga; Utkus, Algirdas. Familial case of c.413T>C PHEX gene mutation leading to X-linked hypophosphatemic rickets // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 520. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
4 Rančelis, Tautvydas; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. 2013, vol. 20, nr. 1, p. 43-51. DOI: 10.6001/actamedica.v20i1.2626. [DB: TOC Premier, Current Abstracts, Index Copernicus]
5 Cimbalistienė, Loreta; Ambrozaitytė, Laima; Smirnova, Marija; Utkus, Algirdas. Algorithm for identifying, diagnostic and management of hyperphenylalaninemia (HPA) in Lithuania // Nacionalinių veiklos, susijusios su retomis ligomis, planų ir strategijų įgyvendinimo aktualijos = The national activities related to rare diseases : programa ir tezės, 2013.11.14, Vilnius. Kaunas : LSMU leidybos namai. 2013, p. 21.
6 Cimbalistienė, Loreta. Fenilketonurija : mokomoji knyga. Vilnius : Vilniaus universitetas, 2013. 170 p. ISBN 9786094170669.
7 Jurecka, Agnieshka; Zakharova, Ekaterina; Cimbalistienė, Loreta; Gusina, Nina; Kulpanovich, Anna; Golda, Adam; Opoka-Winiarska, Violetta; Piotrowska, Ewa; Voskoboeva, Elena; Tylki-Szymanska, Anna. Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene // American journal of medical genetics. Part A. New York : Wiley-Liss, Inc. ISSN 1552-4825. 2013, Vol. 161, iss. 6, p. 1291-1299. DOI: 10.1002/ajmg.a.35905. [DB: BIOSIS Previews, MEDLINE, Science Citation Index Expanded (Web of Science), Wiley InterScience] [IF: 2.048; AIF: 4.463; Q3 (2013 InCities JCR SCIE)]
8 Karandienė, Jurgita; Cimbalistienė, Loreta; Endzinienė, Milda. Nonketotic hyperglycinemia: the first case in Lithuania // Konferencija "Nacionalinių veiklos, susijusios su retomis ligomis, planų ir strategijų įgyvendinimo aktualijos" : programa ir tezės = Conference "The National activities related to rare diseases" : programme and abstracts : 2013-11-14, Vilnius, LT / Vilniaus universitetas. Lietuvos sveikatos mokslų universitetas ; [Organizacinis, mokslinis komitetai: Mačiūnas Erikas (pirm.) [ir kt.], Utkus Algirdas (pirm.) [ir kt.]. Kaunas : Lietuvos sveikatos mokslų universiteto Leidybos namai. 2013, p. 41.
9 Hendriksz, Christian J.; Giugliani, Roberto; Harmatz, Paul; Lampe, Christina; Martins, Ana Maria; Pastores, Gregory M.; Steiner, Gregory M.; Teles, Elisa Leão; Valayannopoulos, Vassili; Cimbalistienė, Loreta (tyrėjas). Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP) // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2013, vol. 36, iss. 2, p. 373-384. DOI: 10.1007/s10545-011-9410-9. [DB: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, VINITI, MEDLINE, Embase] [IF: 4.138; AIF: 4.280; Q1 (2013 InCities JCR SCIE)]
10 Cimbalistienė, Loreta; Ambrozaitytė, Laima; Meškienė, Raimonda; Smirnova, Marija; Blau, N.; Utkus, Algirdas. Tetrahydrobiopterin (BH4) deficiency in Lithuanian newborn screening // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2013, vol. 36, suppl. 2, p. s116. [DB: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, VINITI, MEDLINE] [IF: 4.138; AIF: 4.280; Q1 (2013 InCities JCR SCIE)]
11 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Utkus, Algirdas; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pečiulytė, Agnė; Kučinskas, Vaidutis. Two new de novo interstitial duplications covering 2p14–p22.1: clinical and molecular analysis // Cytogenetic and genome research. Basel : S. Karger AG. ISSN 1424-8581. 2013, Vol. 139, no. 1, p. 52-58. DOI: 10.1159/000342544. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, MEDLINE, Scopus, Embase] [IF: 1.905; AIF: 5.140; Q3 (2013 InCities JCR SCIE)]

2012
1 Čiuladaitė, Živilė; Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Utkus, Algirdas; Cimbalistienė, Loreta; Matulevičienė, Aušra; Pečiulytė, Agnė; Ambrozaitytė, Laima; Aleksiūnienė, Beata; Dirsė, Vaidas; Kučinskas, Vaidutis. Molekulinis kariotipavimas ir intelektinės negalios genetinės priežastys: klinikiniai atvejai = Molecular karyotyping and genetic etiology of intellectual disability: case reports // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2012, vol. 22, nr. 1, p. 67-72. Prieiga per internetą: <http://sm-hs.eu/index.php/smhs/article/view/251/pdf_1> [žiūrėta 2012-02-02]. [DB: Index Copernicus]
2 Cimbalistienė, Loreta; Rimkus, Vytautas; Songailienė, Jurgita; Kučinskas, Vaidutis. Two-generational alkaptonuria in a non-consanguineous family from Lithuania // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2012, t. 14, sp. suppl. p. 27. [DB: Index Copernicus]
3 Dirsė, Vaidas; Cimbalistienė, Loreta; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and thrombocytopenia = Atvejo pristatymas: Jakobseno sindromas su nedideliu veido dismorfizmu, sunkiu klausos sutrikimu ir trombocitopenija // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. 2012, vol. 19, no. 1, p. 1-6. DOI: 10.6001/actamedica.v19i1.2303. [DB: TOC Premier, Current Abstracts, Index Copernicus]
4 Liaugaudienė, Olga; Cimbalistienė, Loreta; Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Preikšaitienė, Eglė; Kučinskas, Vaidutis. De novo duplication 15q22.21-24.1 in patient with mental retardation, congenital heart defect and dysmorphic features // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2012, vol. 20, suppl. 1, p. 67. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.319; AIF: 4.379; Q1 (2012 InCities JCR SCIE)]
5 Valaikienė, Jurgita; Dementavičienė, Jūratė; Jatužis, Dalius; Cimbalistienė, Loreta. Transient brainstem ischemia and dural arteriovenous malformation // Perspectives in Medicine. München : Elsevier Urban & Fischer. ISSN 2211-968X. 2012, Vol. 1, p. 465-468. DOI: 10.1016/j.permed.2012.02.005. [DB: Scopus, ScienceDirect]
6 Jurecka, Agnieshka; Cimbalistienė, Loreta; Gusina, Nina; Róźdźyńska-Swiątkowska, Agnieszka; Tylki-Szymańska, Anna. A Homozygous R152W Mutation is Associated with a Relatively Attenuated Phenotype of Mucopolysaccharidosis Type VI // Molecular genetics and metabolism. San Diego : Academic Press Inc. Elsevier Science. ISSN 1096-7192. 2012, vol. 105, iss. 2, p. s38. Prieiga per internetą: <http://ac.els-cdn.com/S1096719211005038/1-s2.0-S1096719211005038-main.pdf?_tid=ac477172-a594-11e2-98ba-00000aacb361&acdnat=1366007054_a5048d0cdcb7976205379ec9d1e2d7ba> [žiūrėta 2013-04-15]. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, Scopus, ScienceDirect, Embase] [IF: 2.834; AIF: 4.021; Q2 (2012 InCities JCR SCIE)]
7 Cimbalistienė, Loreta; Burnytė, Birutė; Songailienė, Jurgita; Liaugaudienė, Olga; Kučinskas, Vaidutis. Inborn errors of metabolism (IEM) in Lithuania according to the data of center for medical genetics // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2012, Vol. 35, iss. 1, suppl. p. S167. DOI: 10.1007/s10545-012-9512-z. [DB: Embase, MEDLINE, Scopus, TOC Premier, CAB Abstracts, SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 4.070; AIF: 4.227; Q1 (2012 InCities JCR SCIE)]
8 Cimbalistienė, Loreta; Rimkus, Vytautas; Songailienė, Jurgita; Kučinskas, Vaidutis. Two-generational alkaptonuria in a non-consanguineous family from Lithuania // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2012, Vol. 35, iss. 1, suppl. p. S32. DOI: 10.1007/s10545-012-9512-z. [DB: Embase, MEDLINE, Scopus, TOC Premier, CAB Abstracts, SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 4.070; AIF: 4.227; Q1 (2012 InCities JCR SCIE)]
9 Jurecka, Agnieshka; Zakharova, E.; Cimbalistienė, Loreta; Gusina, Nina; Kulpanovich, A.; Golda, A.; Opoka-Winiarska, V.; Piotrowska, Ewa; Voskoboeva, E.; Tylki-Szymanska, Anna. Attenuated phenotype in MPS VI (Maroteaux-Lamy) patients carrying the p.R152W mutation // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2012, Vol. 35, iss. 1, suppl. p. S90. DOI: 10.1007/s10545-012-9512-z. [DB: Embase, MEDLINE, Scopus, TOC Premier, CAB Abstracts, SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 4.070; AIF: 4.227; Q1 (2012 InCities JCR SCIE)]
10 Jurecka, Agnieshka; Cimbalistienė, Loreta; Gusina, Nina; Malinova, V.; Różdżyńska-Świątkowska A., -; Golda, A.; Kulpanovich, A.; Kaldenovna Abdilova, G.; Opoka-Winiarska, V.; Õunap, Katrin; Tylki-Szymanska, Anna. Natural history, incidence and prevalence rates of mucopolysaccharidosis type VI in central and eastern Europe // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2012, Vol. 35, iss. 1, suppl. p. S90. DOI: 10.1007/s10545-012-9512-z. [DB: Embase, MEDLINE, Scopus, TOC Premier, CAB Abstracts, SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 4.070; AIF: 4.227; Q1 (2012 InCities JCR SCIE)]
11 Jurecka, Agnieshka; Piotrowska, Ewa; Cimbalistienė, Loreta; Gusina, Nina; Sobczyńska, Agnieszka; Czartoryska, Barbara; Czerska, Kamila; Õunap, Katrin; Węgrzyn, Grzegorz; Tylki-Szymanska, Anna. Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus Lithuania and Estonia // Molecular genetics and metabolism. San Diego : Academic Press Inc. Elsevier Science. ISSN 1096-7192. 2012, vol. 105, no. 2, p. 237-243. DOI: 10.1016/j.ymgme.2011.11.003. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, Scopus, Embase] [IF: 2.834; AIF: 4.021; Q2 (2012 InCities JCR SCIE)]

2011
1 Cimbalistienė, Loreta; Dirsė, Vaidas; Kučinskas, Vaidutis. Report of a Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and trombocytopenia // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 97-98. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
2 Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Dirsė, Vaidas; Cimbalistienė, Loreta; Utkus, Algirdas; Matulevičienė, Aušra; Tumienė, Birutė; Magini, P.; Baptista, J.; Patsalis, C.; Kurg, A.; Kučinskas, Vaidutis. Clinical features associated with submicroscopic chromosomal aberrations in patients with mental retardation/ developmental delay // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 107. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
3 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Kučinskienė, Zita Aušrelė; Hettinger, J.A.; Sismani, Carolina; Patsalis, Philippos C.; Kučinskas, Vaidutis. De novo 5q35.5 duplication with clinical presentation of Sotos syndrome // American journal of medical genetics. Part A. New York : Wiley-Liss, Inc. ISSN 1552-4825. 2011, Vol. 155, no. 10, p. 2501-2507. DOI: 10.1002/ajmg.a.34179. [DB: BIOSIS Previews, MEDLINE, Science Citation Index Expanded (Web of Science), Wiley InterScience] [IF: 2.391; AIF: 4.354; Q3 (2011 InCities JCR SCIE)]
4 Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Preikšaitienė, Eglė; Patsalis, Philippos C.; Kučinskas, Vaidutis. Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity // Journal of applied genetics. Heidelberg : Springer. ISSN 1234-1983. 2011, vol. 52, no. 4, p. 443-449. DOI: 10.1007/s13353-011-0063-z. [DB: BIOSIS Previews, Science Citation Index Expanded (Web of Science)] [IF: 1.664; AIF: 3.805; Q3 (2011 InCities JCR SCIE)]
5 Jurecka, Agnieshka; Piotrowska, Ewa; Cimbalistienė, Loreta; Gusina, Nina; Rozdzynska, A.; Czartoryska, Barbara; Qunap, K.; Wegrzyn, Grzegorz; Tylki-Szymanska, Anna. Attenuated phenotype in MPS VI (Maroteaux-Lamy) patients carring the p.R152W mutation // 12th International Congress of Human Genetics and the American Siciety of Human Genetics 61st Annual Meeting, 11-15 October 2011, Montreal, Canada. Montreal. 2011, [p. 1].
6 Cimbalistienė, Loreta; Kliukaitė, Eglė. Fenilketonurija ir jos dietinis gydymas : metodinė mokomoji priemonė. Vilnius : UAB "Vaistų žinios", 2011. 52 p. ISBN 9789955884415.
7 Preikšaitienė, Eglė; Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Čiuladaitė, Živilė; Hettinger, Joe A.; Sismani, Carolina; Patsalis, Philippos C.; Kučinskas, Vaidutis. De novo 5Q35.3 duplikacija, lemianti Sotos sindromo klinikinį pasireiškimą // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 2011 m. jaunųjų mokslininkų konferencijos pranešimų santraukos. Vilnius. 2011, p. 11.
8 Cimbalistienė, Loreta; Songailienė, Jurgita; Czartoryska, Barbara; Kučinskas, Vaidutis; Ruijter, .G. Excretion of chondroitin sulphate and heparin sulphate in patient with mucopolysacharidosis type VII (Sly syndrome) case report // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2011, Vol. 34, suppl. 3, p. s215. DOI: 10.1007/s10545-011-9371-z. [DB: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, MEDLINE, Embase] [IF: 3.577; AIF: 4.153; Q2 (2011 InCities JCR SCIE)]
9 Jurecka, Agnieshka; Piotrowska, Ewa; Cimbalistienė, Loreta; Gusina, Nina; Rodzynska, Agnieshka; Czartoryska, Barbara; Qunap, K.; Wegrzyn, G.; Tylki-Szymanska, Anna. Genotype-phenotype correlation in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2011, Vol. 34, suppl. 3, p. s213. DOI: 10.1007/s10545-011-9371-z. [DB: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, MEDLINE, Embase] [IF: 3.577; AIF: 4.153; Q2 (2011 InCities JCR SCIE)]
10 Jurecka, Agnieshka; Cimbalistienė, Loreta; Gusina, Nina; Õunap, Katrin; Rodzynska, Agnieshka; Tylki-Szymanska, Anna. Clinical and biochemical findings in 22 patients with Maroteaux–Lamy syndrome from Central and Eastern Europe // Molecular genetics and metabolism. San Diego : Academic Press Inc. Elsevier Science. ISSN 1096-7192. 2011, Vol. 102, iss. 3, p. 292-293. DOI: 10.1016/j.ymgme.2010.11.160. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, Scopus, ScienceDirect, Embase] [IF: 3.193; AIF: 3.949; Q2 (2011 InCities JCR SCIE)]
11 Jurecka, Agnieshka; Wegrzyn, Grzegorz; Piotrowska, Ewa; Cimbalistienė, Loreta; Gusina, Nina; Õunap, Katrin; Rodzynska, Agnieshka; Tylki-Szymanska, Anna. Molecular analysis of mucopolysaccharidosis type VI in Poland, Baltic states and Belarus: A possible founder effect in Central and Eastern Europe // Molecular genetics and metabolism. San Diego : Academic Press Inc. Elsevier Science. ISSN 1096-7192. 2011, Vol. 102, iss. 3, p. 293. DOI: 10.1016/j.ymgme.2010.11.160. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, Scopus, ScienceDirect, Embase] [IF: 3.193; AIF: 3.949; Q2 (2011 InCities JCR SCIE)]

2010
1 Preikšaitienė, Eglė; Cimbalistienė, Loreta; Magini, P.; Kučinskas, Vaidutis. Mental retardation in a patient with 14q32.33 and 19p13.3 microdeletions characterized using array-based CGH // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2010, vol. 18, suppl. 1, p. 119. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2010Abstracts.pdf> [žiūrėta 2018-08-13]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.380; AIF: 4.510; Q1 (2010 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Šliužas, Vytautas; Kučinskas, Vaidutis. Report of a patient with a 46, XY, 9p- constitution due to a paternal t(5:9) translocation // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2010, vol. 18, suppl. 1, p. 113. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2010Abstracts.pdf> [žiūrėta 2018-08-13]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.380; AIF: 4.510; Q1 (2010 InCities JCR SCIE)]
3 Cimbalistienė, Loreta; Tumienė, Birutė; Utkus, Algirdas; Kučinskas, Vaidutis; Brackman, H.; Santer, R. Fanconi-Bickel syndrome: three unrelated cases from Northern and Eastern Europe with the same novel mutation of the SLC2A2 gene // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2010, vol. 33, suppl. 1, p. s70. DOI: 10.1007/s10545-010-9163-x. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 3.808; AIF: 4.373; Q2 (2010 InCities JCR SCIE)]
4 Talijūnienė, Ieva; Ramanauskienė, Inesa; Cimbalistienė, Loreta; Butrimienė, Irena. Klainfelterio sindromas, reumatoidinis artritas ir akromegalija: klinikinis atvejis ir literatūros apžvalga = Klinefelter's syndrome, rheumatoid arthritis and acromegaly: case report and literature review // Medicinos teorija ir praktika. Vilnius : Medicinos mintis. ISSN 1392-1312. 2010, t. 16, nr. 3, p. 280-286. Prieiga per internetą: <http://www.mtp.lt/files/64_pdfsam_.pdf> [žiūrėta 2010-12-29]. [DB: Index Copernicus]

2009
1 Cimbalistienė, Loreta; Kasnauskienė, Jūratė; Blau, N.; Kučinskas, Vaidutis. The first case of DHPR deficiency in Lithuania // Molecular genetics and metabolism. San Diego : Academic Press Inc. Elsevier Science. ISSN 1096-7192. 2009, vol. 98, iss. 1-2, p. 21. [IF: 2.897; AIF: 4.066; Q2 (2009 InCities JCR SCIE)]
2 Kutuzova, Olga; Tumienė, Birutė; Valevičienė, Nomeda; Grikinienė, Jurgita; Cimbalistienė, Loreta; Kučinskas, Vaidutis; Beck, Michael. A case of infantile Krabbe disease: clinical, radiological and laboratory findings // 10th international conference of Baltic child neurology association, May 6-9, 2009 : abstracts. Tartu : Baltic child neurology association. 2009, [1 p.].

2008
1 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations // Russian journal of genetics. ISSN 1022-7954. 2008, vol. 44, no. 10, p. 1212-1218. DOI: 10.1134/S1022795408100116. [DB: Scopus, Chemical abstracts, Science Citation Index Expanded (Web of Science)] [IF: 0.266; AIF: 4.360; Q4 (2008 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Černiauskienė, Vilija; Kučinskas, Vaidutis. The first case of Berardinelli-Seip congenital lypodystrophy reported in Lithuania // European journal of human genetics: vol. 16, suppl. 2 : : European human genetics conference 2008, Barcelona, Spain, 2008, May 31 - June 3 : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2008, vol. 16, suppl. 2, p. 94. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
3 Dagytė, Evelina; Cimbalistienė, Loreta; Kučinskas, Vaidutis. A girl with ring chromosome 5 // European journal of human genetics: vol. 16, suppl. 2 : European human genetics conference 2008, Barcelona, Spain, 2008, May 31 - June 3 : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2008, vol. 16, suppl. 2, p. 163. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
4 Cimbalistienė, Loreta; Songailienė, Jurgita; Czartoryska, Barbara; Kučinskas, Vaidutis. Phenotype variability in six cases with MPS VI in Lithuania // Journal of inherited metabolic disease. ISSN 0141-8955. 2008, vol. 31, suppl. 1, p. 123. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 2.691; AIF: 4.185; Q2 (2008 InCities JCR SCIE)]
5 Sass, Jorn Oliver; Jobard, F.; Topcu, M.; Mahfoud, A.; Werle, E.; Cure, S.; Al-Sanna, N.; Alshahwan, S.A.; Batailard, M.; Cimbalistienė, Loreta; Grolik, C.; Omran, H.; Sztriha, L.; Tabache, M.; Fischer, J. L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene // Journal of inherited metabolic disease. ISSN 0141-8955. 2008, vol. 31, no. 3, p. 464-468. DOI: 10.1007/s10545-008-0855-4. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 2.691; AIF: 4.185; Q2 (2008 InCities JCR SCIE)]
6 Cimbalistienė, Loreta. Paveldimos medžiagų apykaitos ligos : metodinė mokomoji knyga. Vilnius : Vilniaus universiteto leidykla, 2008. 272 p. ISBN 9789955390442.

2007
1 Aleksiūnienė, Beata; Janavičius, Ramūnas; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Phenotypic characteristics of 9p deletion syndrom: a case report // European journal of human genetics: European human genetics conference 2007, Nice, France, 2007, June 16-19. London : Nature Publishing Group. ISSN 1018-4813. 2007, vol. 15, suppl. 1, p. 106. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Lehnert, Willy; Huoponen, Kirsi; Kučinskas, Vaidutis. First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis // Journal of applied genetics. ISSN 1234-1983. 2007, vol. 48, no. 3, p. 277-280. DOI: 10.1007/BF03195224. [DB: BIOSIS Previews, Science Citation Index Expanded (Web of Science)] [IF: 0.967; AIF: 3.670; Q4 (2007 InCities JCR SCIE)]
3 Šliužas, Vytautas; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Terminal deletion of chromosome 18q in apatient with multiple congenital malformations including mental retardation // Chromosome research. ISSN 0967-3849. 2007, vol. 15, suppl. 1, p. 54-55. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 3.469; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
4 Aleksiūnienė, Beata; Cimbalistienė, Loreta; Zarakauskaitė, Eglė; Kučinskas, Vaidutis. Down-Turner syndrome: a case report // Chromosome research. ISSN 0967-3849. 2007, vol. 15, suppl. 1, p. 47. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 3.469; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
5 Cimbalistienė, Loreta; Jakutovič, Marija; Tumienė, Birutė; Songailienė, Jurgita; Kučinskas, Vaidutis. alpha-Mannosidosis presenting with two different clinical phenotypes // Journal of inherited metabolic disease. ISSN 0141-8955. 2007, vol. 30, suppl. 1, p. 112. Prieiga per internetą: <https://link.springer.com/content/pdf/10.1007%2Fs10545-007-9987-1.pdf>. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 1.668; AIF: 4.142; Q3 (2007 InCities JCR SCIE)]
6 Tumienė, Birutė; Cimbalistienė, Loreta; Jakutovič, Marija; Černiauskienė, Vilija; Songailienė, Jurgita; Czartoryska, B.; Malecka, J.; Beck, M.; Kučinskas, Vaidutis. Six cases of mucolipidoses II and III: Range of clinical severity and previously not described symptoms // Journal of inherited metabolic disease. ISSN 0141-8955. 2007, vol. 30, suppl. 1, p. 101. Prieiga per internetą: <https://link.springer.com/content/pdf/10.1007%2Fs10545-007-9987-1.pdf>. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 1.668; AIF: 4.142; Q3 (2007 InCities JCR SCIE)]
7 Šliužas, Vytautas; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Girl with chromosome 18q deletion - molecular cytogenetic analysis of the case = Aštuonioliktos cromosomos q peties dalinė delecija - molekulinė citogeninė atvejo analizė // Laboratorinė medicina. ISSN 1392-6470. 2007, T. 9, nr. 4, p. 171-174. [DB: Index Copernicus]

2006
1 Cimbalistienė, Loreta; Šliužas, Vytautas; Tumienė, Birutė; Kučinskas, Vaidutis. Two different chromosomal anomalies in siblings: Klinefelter syndrome and del(18)(q21) // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2006, vol. 14, suppl. 1, p. 113. [IF: 3.697; AIF: 4.370; Q2 (2006 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Lehnert, Willy; Huoponen, K.; Kučinskas, Vaidutis. A case of lysinuric protein intolerance presenting with hepatosplenomegaly // Laboratorinė medicina: Nr. 1 : 8th Baltic Congress of laboratory medicine, Vilnius 2006. Vilnius : Lietuvos laboratorinės medicinos draugija : Lietuvos žmogaus genetikos draugija : Nacionalinė laboratorijų tiekėjų asociacija (NLTA). ISSN 1392-6470. 2006, Nr. 1, p. 19. [DB: Index Copernicus]
3 Cimbalistienė, Loreta; Lehnert, Willy; Huoponen, Kirsi; Kučinskas, Vaidutis. A case of lysinuric protein intolerance presenting with hepatosplenomegaly // Journal of inherited metabolic disease. ISSN 0141-8955. 2006, vol. 29, suppl. 1, abstract no. P-4-3, p. 107. Prieiga per internetą: <https://link.springer.com/content/pdf/10.1007%2Fs10545-006-9995-6.pdf>. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 1.574; AIF: 4.102; Q3 (2006 InCities JCR SCIE)]
4 Šliužas, Vytautas; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Patient with syndromic cleft lip-palate, mosaic karyotype and cytogenetically abnormal brother = Pacientas su sindrominiu lūpos ir gomurio nesuaugimu, mozaikiniais kariotipo pokyčiais ir kariotipo pokytį turinčiu broliu // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademijos leidykla. ISSN 1392-0138. 2006, vol. 13, no. 2, p. 97-104. Prieiga per internetą: <http://mokslozurnalai.lmaleidykla.lt/actamedicalituanica/2006/2/> [žiūrėta 2020-04-10]. [DB: Index Copernicus, Current Abstracts, TOC Premier, Current Abstracts (EBSCO)]

2005
1 Cimbalistienė, Loreta; Smirnova, Marija; Zamkauskienė, Dalia; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. Results of mass neonatal screening in Lithuania // Journal of inherited metabolic disease. ISSN 0141-8955. 2005, vol. 28, suppl. 1, p. 5. [DB: SpringerLink, Science Citation Index Expanded (Web of Science)] [IF: 1.722; AIF: 4.103; Q3 (2005 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Vasiliauskienė, I.; Tumienė, Birutė; Kučinskas, Vaidutis. A diagnosis of LCHAD deficiency made 8 years after a child's death // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2005, vol. 13, suppl. 1, p. 88. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.251; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]
3 Kučinskas, Vaidutis; Šliužas, Vytautas; Utkus, Algirdas; Cimbalistienė, Loreta. Mosaic chromosome 21 abnormality in the patient with syndromic cleft lip and cleft palate // Chromosome research. ISSN 0967-3849. 2005, vol. 13, suppl. 1, p. 41. [DB: Genetics Abstracts, Current Awareness in Biological Sciences, AgBiotech News and Information, Science Citation Index Expanded (Web of Science)] [IF: 3.007; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]

2004
1 Cimbalistienė, Loreta. Normal clinical outcome in untreated subjects with classical phenylketonuria // Dietary management of inborn errors of metabolic disease : [abstracts], 12 March, 2004, London. London. 2004, p. [1].

2003
1 Jusienė, Roma; Bieliauskaitė, Rasa; Cimbalistienė, Loreta; Kučinskas, Vaidutis. The psychological adjustment of children with phenylketonuria = Fenilketonurija sergančių vaikų psichologinis prisitaikymas // Baltic journal of psychology. 2003, vol. 3, no. 1, p. 34-40.
2 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania // Medical science monitor : International medical journal of experimental and clinical research. Warsaw : Medical Science International Sp. z o.o. ISSN 1234-1010. 2003, vol. 9, no. 2, p. 142-146.
3 Kasnauskienė, Jūratė; Giannattasio, Sergio; Lattanzio, Paolo; Cimbalistienė, Loreta; Kučinskas, Vaidutis. The molecular basis of phenylketonuria in Lithuania // Human mutation. Hoboken : Wiley. ISSN 1059-7794. 2003, vol. 21, no. 4, p. 398. DOI: 10.1002/humu.9113. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 6.328; AIF: 4.390; Q1 (2003 InCities JCR SCIE)]

2002
1 Jusienė, Roma; Bieliauskaitė, Rasa; Cimbalistienė, Loreta. Fenilketonurija sergančių vaikų emocijų ir elgesio problemos = Emotional and behavioral problems of children with phenylketonuria // Psichologija. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0359. 2002, t. 25, p. 28-42. DOI: 10.15388/Psichol.2002..4406.
2 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. PAH gene mutations identified in Lithuanian PKU patients // The 6th Baltic congress for laboratory medicine : abstracts volume, Riga, May 30-June 1, 2002. Riga. 2002, p. 35.
3 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Predicting a clinical/biochemical phenotype for PKU/MHP patients with rare PAH gene mutations = Klinikinio/biocheminio fenotipo nustatymas sergantiems FKU ir lengva HPF, kuriems identifikuotos retos PAH geno mutacijos // Laboratorinė medicina. ISSN 1392-6470. 2002, spec. nr, p. S16-S19.
4 Cimbalistienė, Loreta; Lehnert, Willy; Brinkis, Rasa; Sass, Jorn Oliver; Witsch-Baumgartner, Martina; Kučinskas, Vaidutis. First report of Smith-Lemli-Opitz syndrome in Lithuania confirmed by metabole and mutation = Pirmasis Smith-Lemli-Opitz sindromo atvejis Lietuvoje, patvirtintas biocheminiais ir molekuliniais genetiniais tyrimais // Laboratorinė medicina : medicinos žurnalas, leidžiamas kartą per mėnesį. ISSN 1392-6470. 2002, spec, nr, p. S42-S43.
5 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. A molecular survey of phenylketonuria in Lithuania: spectrum, frequency and phenotypical manifestation of PAH gene mutations = Molekulinė fenilketonurijos apžvalga Lietuvoje: PAH geno mutacijų spektro ir dažnio nustatymas ir jų fenotipinis pasireiškimas // Biologija. ISSN 1392-0146. 2002, nr. 3, p. 60-63. [DB: VINITI, CAB Abstracts]
6 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. A molecular survey of phenylketonuria in Lithuania: identification of spectrum and frequency of PAH gene mutations // The 3d genetical congress of Baltic States : Programme and book of abstracts, Vilnius, 10-12 October, 2002. Vilnius. 2002, p. 50.
7 Jusienė, Roma; Cimbalistienė, Loreta; Juščienė, Dalia Genovaitė; Kučinskas, Vaidutis. Psychological problems of children with inherited diseases // The 3d genetical congress of Baltic States : Programme and book of abstracts, Vilnius, 10-12 October, 2002. Vilnius. 2002, p. 48.
8 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. PAH gene mutations identified in Lithuania // European journal of human genetics: vol. 10: European Human Genetics Conference 2002 in conjunction with the European meeting on psychosocial aspects of genetics 2002, May 25-29, Strasbourg, France. London : Nature Publishing Group. ISSN 1018-4813. 2002, vol. 10, p. 238. [IF: 3.136; AIF: 0.000; Q2 (2002 InCities JCR SCIE)]
9 Jusienė, Roma; Bieliauskaitė, Rasa; Cimbalistienė, Loreta. Fenilketonurija sergančių skirtingo amžiaus vaikų elgesio sunkumai // Lietuvos psichologijos akiračiai : pasaulio lietuvių psichologų konferencijos medžiaga, Vilnius, 2002 m. birželio 26-29. Vilnius : Vilniaus universiteto leidykla, 2002. ISBN 9986194873. p. 133.

2001
1 Kasnauskienė, Jūratė; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Rare mutations in PKU patients from Lithuania // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2001, vol. 9, suppl. 1, p. 406. [IF: 3.173; AIF: 0.000; Q2 (2001 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Kučinskas, Vaidutis; Drazdienė, Nijolė; Lehnert, Willy. Sukcinatsemialdehido dehidrogenazės stoka (4-hidroksisviesto acidurija): literatūros apžvalga ir trumpas ligos atvejo aprašymas // Laboratorinė medicina. Vilnius : Laboratorinė medicina. ISSN 1392-6470. 2001, nr. 3(11), p. 47-50.
3 Cimbalistienė, Loreta; Kučinskas, Vaidutis; Vasiliauskienė, I.; Lehnert, W. The first four cases of ornithine transcarbamylase deficiency detected in Lithuania // 6th international conference of Baltic child neurology association, June 13-16, 2001, Kaunas : program and abstracts. Kaunas. 2001, p. 94.
4 Jusienė, Roma; Cimbalistienė, Loreta; Kučinskas, Vaidutis. Psychosocial problems of Lithuanian PKU children // European congress of psychology, 1-6 July 2001, the Berbical centre, London : book of abstracts. London. 2001, p. 149-150.
5 Jurgelevičius, Vaclovas; Kučinskas, Vaidutis; Cimbalistienė, Loreta. Pattern of deletions in the dystrophin gene duchenne/ Becker muscular dystropy in patients from Lithuania // 6th international conference of Baltic child neurology association, June 13-16, 2001, Kaunas : program and abstracts. Kaunas. 2001, p. 178.

2000
1 Cimbalistienė, Loreta; Kučinskas, Vaidutis; Klimienė, Rūta; Lehnert, Willy. The first case of propionic acidemia in Lithuania : rewiew of the literature and a short case report // Acta medica Lituanica. ISSN 1392-0138. 2000, vol. 7, nr. 2, p. 59-63.
2 Raugalė, Algimantas; Bačiulis, Vytautas; Basys, Vytautas; Cimbalistienė, Loreta; Dobrovolskis, Konstantinas Romualdas; Drazdienė, Nijolė; Indrėjaitytė, Ieva Laimutė; Jučaitė, Aurelija; Kinčinienė, Odeta; Kučinskas, Vaidutis; Ragelienė, Lina; Rudzikienė, Marija-Danutė; Sadauskas, Jonas; Tilindienė, Nijolė; Tutkuvienė, Janina; Urbonavičienė, Ramunė Teresė; Utkus, Algirdas; Valiulis, Arūnas; Vingras, Algimantas Alfonsas; Žilinskaitė, Virginija. Vaikų ligos. T. 1: Vaikų ligų propedeutika, naujagimio ligos, paveldimosios ligos : [vadovėlis aukštosioms mokykloms]. Vilnius : Gamta, 2000. 639 p. ISBN 995544701X.