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Tesi, Bianca; Rascon, Jelena; Chiang, Samuel; Burnytė, Birutė; Löfstedt, Alexandra; Fasth, Anders; Heizmann, Miriam; Juozapaitė, Sandra; Kiudelienė, Rosita; Kvedaraitė, Eglė; Misevičienė, Valdonė; Mulevičienė, Audronė; Müller, Martha-Lena; Nordenskjöld, Magnus; Matuzevičienė, Reda; Samaitienė, Rūta; Speckmann, Carsten; Stankevičienė, Sigita; Žėkas, Vytautas; Voss, Matthias; Ehl, Stephan; Vaičienė-Magistris, Nerija; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T. A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation // Journal of allergy and clinical immunology. New York : Mosby-Elsevier. ISSN 0091-6749. eISSN 1097-6825. 2018, vol. 142, no. 1, p. 317-321. DOI: 10.1016/j.jaci.2018.02.031. [DB: Scopus, Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 14.110; AIF: 4.730; Q1 (2018 InCities JCR SCIE)] |
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Burnytė, Birutė; Ambrozaitytė, Laima; Sereikė, Ieva; Maculevičienė, Inga; Morkūnienė, Aušra; Kučinskas, Vaidutis; Utkus, Algirdas. MFN2 aksonopatija: klinikinis atvejis // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, t. 20, Nr. 1, p. 41-45. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/704/2018>. [DB: Index Copernicus] |
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Burnytė, Birutė; Ambrozaitytė, Laima; Morkūnienė, Aušra; Baronas, Karolis; Kavaliauskienė, Ingrida; Kučinskas, Vaidutis; Utkus, Algirdas. Genetic diagnostic utility in a cohort of patients with hereditary neuropathy // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S20. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus] |
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Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Baronas, Karolis; Kavaliauskienė, Ingrida; Sereikė, Ieva; Kučinskas, Vaidutis; Utkus, Algirdas. The MFN2 gene is rarely mutated in Lithuanian patients with Charcot–Marie–Tooth disease // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. supl. p. S21. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus] |
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Grigalionienė, Kristina; Burnytė, Birutė; Žukauskaitė, Gabrielė; Vansevičiūtė, Danutė; Utkus, Algirdas. Comprehensive analysis of mitochondrial DNA in patients with suspected mitochondrial disorder // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S23. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus] |
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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] |
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Pelnena, Dita; Burnytė, Birutė; Jankevics, Eriks; Lace, Baiba; Dagytė, Evelina; Grigalionienė, Kristina; Utkus, Algirdas; Krumina, Zita; Rozentale, Jolanta; Adomaitienė, Irina; Stavusis, Janis; Pliss, Liana; Inashkina, Inna. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome // Mitochondrial DNA. Part A. Abingdon : Taylor and Francis Ltd. ISSN 2470-1394. eISSN 2470-1408. 2018, vol. 29, no 7, p. 1115-1120. DOI: 10.1080/24701394.2017.1413365. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 0.566; AIF: 3.940; Q4 (2018 InCities JCR SCIE)] |
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Blažytė, Evelina Marija; Samsonė, Viltė Gabrielė; Matulevičienė, Aušra; Aleksiūnienė, Beata; Burnytė, Birutė; Dagytė, Evelina; Tumienė, Birutė; Utkus, Algirdas. The spectrum of associated congenital malformations in Down syndrome: a retrospective Lithuanian cohort study // 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-P05.10, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4399> [žiūrėta 2018-07-26]. |
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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]. |
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Dagytė, Evelina; Matulevičienė, Aušra; Ambrozaitytė, Laima; Laimutė, Rita; Aleksiūnienė, Beata; Burnytė, Birutė; Utkus, Algirdas. 15q13.3 microdeletion and microduplication in patients with neurodevelopment disorders // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/1772> [žiūrėta 2018-07-25]. |
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Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Regelskytė, Vaiva; Vaitkevičius, Arūnas; Kučinskas, Vaidutis; Utkus, Algirdas. A report of a family of intermediate Charcot-Marie-Tooth disease with concomitant mutations in the GNB4 and DNM2 genes // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/2259> [žiūrėta 2018-07-25]. |
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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]. |
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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] |
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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)] |
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Burnytė, Birutė; Ambrozaitytė, Laima; Grigalionienė, Kristina; Morkūnienė, Aušra; Baronas, Karolis; Kučinskas, Vaidutis; Utkus, Algirdas. Peripheral neuropathies: Application of targeted next generation sequencing for Lithuanian patients cohort // American Society of Human Genetics 68th annual meeting, October 16-20, 2018, San Diego : poster abstracts. Rockville : ASHG. 2018, absrtact no. 1132T, p. 79. |
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Burnytė, Birutė; Kavaliauskienė, Ingrida; Molytė, Alma; Ambrozaitytė, Laima; Rančelis, Tautvydas; Morkūnienė, Aušra; Matulevičienė, Aušra; Tumienė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Novel mutations of the GJB1 gene associated with Charcot-Marie-Tooth type 1X in Lithuanian cohort // 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. P10.23C, p. 431-432. 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)] |
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Braždžiūnaitė, Deimantė; Burnytė, Birutė; Aleksiūnienė, Beata; Grigalionienė, Kristina; Ambrozaitytė, Laima; Norkūnienė, V.; Utkus, Algirdas. A case of syndromic split hand/foot malformation type 1 with de novo 7q21.3 deletion // 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. P11.109A, p. 502. 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)] |