VU Medicinos fakulteto autoriaus 'Birutė Burnytė' publikacijų sąrašas

2020
1 Cuenca, Marc Vila; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W; Piubelli, Chiara; Borges, Marina Dorigatti; de Albuquerque, Dulcinéia Martins; Yotsumoto Fertrin, Kleber; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnytė, Birutė; Utkus, Algirdas; Busti, Fabiana; Kaubrys, Gintaras Ferdinandas; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B.; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; Girelli, Domenico; Sanchez, Mayka. Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis // International journal of molecular sciences. Basel : MDPI. ISSN 1661-6596. eISSN 1422-0067. 2020, vol. 21, no. 7, art. no. 2374, p. [1-14]. DOI: 10.3390/ijms21072374. [DB: Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Scopus, MEDLINE]
2 Naudžiūnaitė, Simona; Burnytė, Birutė (vadov.). Paveldima neuropatija su polinkiu į suspaudimo paralyžius: atvejo aprašymas // Studentų mokslinės veiklos LXXII konferencija : Vilnius, 2020 m. gegužės 18-22 d. : pranešimų tezės / Vilniaus universitetas. Medicinos fakultetas; leidinį sudarė Simona Kildienė. Vilnius : Vilniaus universiteto leidykla, 2020. ISBN 9786090704103. p. 265. DOI: 10.15388/Proceedings.2020.1.
3 Naudžiūnaitė, Simona; Burnytė, Birutė (vadov.). Hereditary neuropathy with liability to pressure palsies: clinical case series // Juvenes Pro Medicina 2020 : 16th international and 58th Polish conference, 15-16th May 2020 : the book of abstract. Łódź : Medical University of Łódź, 2020. ISBN 9788394762735. p. 135. Prieiga per internetą: <http://jpm.umed.pl/pliki/abstractbook/JuvenesProMedicina-2020.pdf> [žiūrėta 2020-05-27].
4 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 Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnytė, Birutė; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Häberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Möslinger, D.; Müller-Wieland, D.; Murphy, E.; Õunap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; De Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T. The natural history of classic galactosemia: Lessons from the GalNet registry // Orphanet journal of rare diseases. London : BioMed Central Ltd. eISSN 1750-1172. 2019, vol. 14, art. no 86, p. [1-11]. DOI: 10.1186/s13023-019-1047-z. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed, MEDLINE, Embase]
2 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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
3 Burnytė, Birutė; Grigalionienė, Kristina; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas. Improving molecular diagnosis of Charcot-Marie-Toothdisease by targeted next-generation sequencing in a cohort 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 : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1483. DOI: 10.1038/s41431-019-0494-2. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
4 Matulevičienė, Aušra; Burnytė, Birutė; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Matulevičiūtė, R.; Aleksiūnienė, Beata; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. Variable expressivity of the c.749 C > G mutation in the FGFR3 gene in two unrelated families of Muenke syndrome // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P04.14, p. 871-872. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
5 Grigalionienė, Kristina; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. MtDNA sequence analysis in the group of Lithuanian patients with clinically suspected mitochondrial disease // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters, May 27-30, 2017, Copenhagen, Denmark. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P06.32, p. 897-898. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
6 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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
7 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].
8 Jasionytė, Gabija; Bunevičiūtė, Ramunė (vadov.); Burnytė, Birutė (vadov.). A novel mutation of the HINT1 gene associated with autosomal recessive axonal neuropathy with neuromyotonia: a case report // 14th Bialystok international medical congress for young scientists, May 17-18th 2019 : book of abstracts. Białystok : Medical University of Bialystok, 2019. ISBN 9788395207501. p. 247. Prieiga per internetą: <http://bimc.umb.edu.pl/wp-content/uploads/2019/05/14th-BIMC-Book-of-Abstracts.pdf> [žiūrėta 2020-04-14].

2018
1 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: MEDLINE, Science Citation Index Expanded (Web of Science), Scopus] [IF: 14.110; AIF: 4.730; Q1 (2018 InCities JCR SCIE)]
2 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]
3 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]
4 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]
5 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]
6 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]
7 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: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.566; AIF: 3.940; Q4 (2018 InCities JCR SCIE)]
8 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 [elektroninis išteklius]. 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].
9 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 [elektroninis išteklius]. 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].
10 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 [elektroninis išteklius]. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/1772> [žiūrėta 2018-07-25].
11 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 [elektroninis išteklius]. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/2259> [žiūrėta 2018-07-25].
12 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 [elektroninis išteklius]. 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].
13 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. Amsterdam : IOS Press. ISSN 2214-3599. eISSN 2214-3602. 2018, vol. 5, suppl. 1, p. 206. DOI: 10.3233/JND-189001. [DB: Embase, PubMed, Scopus]
14 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: Science Citation Index Expanded (Web of Science), Scopus, Embase, MEDLINE, CAB Abstracts] [IF: 4.287; AIF: 3.757; Q1 (2018 InCities JCR SCIE)]
15 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. Prieiga per internetą: <http://www.ashg.org/2018meeting/pdf/ASHG-2018-poster-abstracts.pdf> [žiūrėta 2018-10-29].
16 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)]
17 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)]

2017
1 Grigalionienė, Kristina; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. MtDNA sequence analysis in the group of Lithuanian patients with clinically suspected mitochondrial disease // European human genetics conference 2017, Copenhagen, Denmark, May 27-30 [elektroninis išteklius]. Copenhagen : ESHG. 2017, abstract no. E-P06.32. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=aebd0bff-263b-4f64-ae13-3e39f4e607fa&cKey=bf4d158b-c657-4544-8aea-0708a9ae23e0&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
2 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). Philadelphia : Lippincott Williams & Wilkins. ISSN 0025-7974. eISSN 1536-5964. 2017, Vol. 96, no 16, Art. no e6521 [p. 1-6]. DOI: 10.1097/MD.0000000000006521. [DB: MEDLINE, Embase, CAB Abstracts, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.028; AIF: 4.640; Q2 (2017 InCities JCR SCIE)]
3 Navikienė, Jūratė; Kalinauskienė, Olga; Šlepikienė, Rita; Strupienė, Laima; Liubšys, Arūnas; Burnytė, Birutė; Samaitienė, Rūta. Two cases of age related epilepsy syndromes at the neonatal intensive care unit // 14th Conference of the Baltic Child Neurology Association (BCNA) : May 18-20, 2017, Riga, Latvia : program and abstracts. Riga : Baltic Child Neurology Association. 2017, p. 40.
4 Burnytė, Birutė; Grigalionienė, Kristina; Burokienė, Vilmanta; Besusparis, Justinas; Ambrozaitytė, Laima; Utkus, Algirdas. Diagnostic management challenges in an infant with possible diagnosis of mitochondrial disease // 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. 27.
5 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.
6 Juozapaitė, Sandra; Praninskienė, Rūta; Burnytė, Birutė; Ambrozaitytė, Laima; Skerlienė, Birutė. Novel mutation in a patient with late onset GLUT1 deficiency syndrome // Brain & development. Amsterdam : Elsevier. ISSN 0387-7604. eISSN 1872-7131. 2017, Vol. 39, Iss. 4, p. 352-355. DOI: 10.1016/j.braindev.2016.11.007. [DB: Science Citation Index Expanded (Web of Science), Embase, MEDLINE, PsycInfo, Scopus] [IF: 1.544; AIF: 3.502; Q4 (2017 InCities JCR SCIE)]
7 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]
8 Šliužas, Vytautas; Aleksiūnienė, Beata; Dagytė, Evelina; Ambrozaitytė, Laima; Tumienė, Birutė; Burnytė, Birutė; Utkus, Algirdas. 16p11.2 microdeletion and microduplication in two Lithuanian patients with speech delay // European human genetics conference 2017, Copenhagen, Denmark, May 27-30 [elektroninis išteklius]. Copenhagen : ESHG. 2017, abstract no. E-P11.01. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=b92ea822-f3b4-480e-9df7-6a4f558bd64c&cKey=b6069b02-982c-46c4-8f03-f0b2b77c5ebd&mKey={15A3630E-7769-4D64-A80A-47F190AC2F4F}> [žiūrėta 2017-09-27].
9 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Aleksiūnienė, Beata; Grigalionienė, Kristina; Ambrozaitytė, Laima; Norkūnienė, Valerija; Utkus, Algirdas. A case of syndromic split hand/foot malformation type 1 with de novo 7q21.3 deletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30 [elektroninis išteklius]. Copenhagen : ESHG. 2017, abstract no. P11.109A, [1 p.]. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5ceff91c-a4bf-4aba-bcc0-877da2315b85&cKey=6f21b67d-3233-4580-98e3-13d0ad6261f3&mKey={15A3630E-7769-4D64-A80A-47F190AC2F4F}> [žiūrėta 2017-09-28].
10 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 human genetics conference 2017, Copenhagen, Denmark, May 27-30 [elektroninis išteklius]. Copenhagen : ESHG. 2017, abstract no P10.23C. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=2d379845-aecd-4ea0-a85f-876226664d8d&cKey=8f3b4158-99ae-4bde-b14e-93101ca830a0&mKey=%7b15A3630E-7769-4D64-A80A-47F190AC2F4F%7d> [žiūrėta 2017-10-02].
11 Matulevičienė, Aušra; Burnytė, Birutė; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Matulevičiūtė, Rugilė; Aleksiūnienė, Beata; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. Variable expressivity of the c.749C>G mutation in the FGFR3 gene in two unrelated families of Muenke syndrome // European human genetics conference 2017, Copenhagen, Denmark, May 27-30 [elektroninis išteklius]. Copenhagen : ESHG. 2017, abstract no. E-P04.14. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=bba53598-181c-4525-a44f-643ebb9088e3&cKey=1d10f7e1-d9cf-4da2-910b-aad3dc1b6308&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
12 Burnytė, Birutė; Kavaliauskienė, Ingrida; Ambrozaitytė, Laima; Morkūnienė, Aušra; Matulevičienė, Aušra; Tumienė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Phenotypical features and genetic findings in Lithuanian patients with CMTX1 // American Society of Human Genetics 67th Annual Meeting, October 17-21, 2017, Orlando, Florida : poster abstracts. Rockville : ASHG. 2017, p. 327. Prieiga per internetą: <https://www.ashg.org/2017meeting/pdf/ASHG-2017_Poster-Abstracts.pdf> [žiūrėta 2017-11-09].
13 Rubio-Gozalbo, M. E.; Bosch, A. M.; Burlina, A.; Berry, G. T.; Treacy, E. P.; Burnytė, Birutė (tyrėj.). The galactosemia network (GalNet) // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. eISSN 1573-2665. 2017, Vol. 40, no 2, p. 169-170. DOI: 10.1007/s10545-016-9989-y). [DB: MEDLINE, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 4.092; AIF: 3.722; Q1 (2017 InCities JCR SCIE)]
14 Pečiulienė, Skaistė; Burnytė, Birutė; Kalinauskienė, Olga; Garunkštienė, Rasa; Liubšys, Arūnas. Sėkmingas klevų sirupo šlapime ligos gydymas pertraukiamąja hemodiafiltracija. Klinikinis atvejis ir literatūros apžvalga = Successful treatment of maple syrup urine disease with intermittent hemodiafiltration. Clinical case presentation and literature review // Lietuvos akušerija ir ginekologija. Kaunas : Vitae litera. ISSN 1392-5091. 2017, T. 20, nr. 4, p. 296-299. Prieiga per internetą: <http://zurnalai.vitaelitera.lt/eb/1658/lietuvos-akuserija-ir-ginekologija-2017-m-nr-4/> [žiūrėta 2018-05-16]. [DB: Index Copernicus]
15 Krživickytė, Agnė; Kučinskaitė, Justina; Burnytė, Birutė (vadov.). Naujagimių, kuriems įtariama paveldima medžiagų apykaitos liga (PMAL), gydymo intensyviosios terapijos skyriuje sąnaudų analizė // Studentų mokslinės veiklos 69 konferencija, Vilnius 2017 m. gegužės 18-26d.: pranešimų tezės. Vilnius : Vilniaus universiteto leidykla, 2017. ISBN 9786094598395. eISBN 9786094598388. p. 338-339. Prieiga per internetą: <https://www.mf.vu.lt/images/vu_mf_studentu_konferencija_2017_pataisytas.pdf> [žiūrėta 2019-05-15].

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: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
2 Pečiulienė, Skaistė; Burnytė, Birutė; Gudaitienė, Rymanta; Rusonienė, Skirmantė; Drazdienė, Nijolė; Liubšys, Arūnas; Utkus, Algirdas. Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra // Pediatric Rheumatology. London : BioMed Central Ltd. ISSN 1546-0096. eISSN 1546-0096. 2016, Vol. 14, Art. No. 19. DOI: 10.1186/s12969-016-0081-9. [DB: Science Citation Index Expanded (Web of Science), Current Contents, MEDLINE, PubMed, Scopus, Academic OneFile, TOC Premier, Academic Search Complete] [IF: 2.283; AIF: 2.998; Q2 (2016 InCities JCR SCIE)]
3 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: Science Citation Index Expanded (Web of Science), Scopus, PubMed, MEDLINE, CAS (nenaudotinas), Current Contents, CAB Abstracts] [IF: 1.739; AIF: 3.110; Q2 (2016 InCities JCR SCIE)]
4 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.
5 Šliužas, Vytautas; Maldžienė, Živilė; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. Patient with 22q11.2 microdeletion and atypical clinical features // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, Vol. 24, e-suppl. 1, p. 233. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf> [žiūrėta 2016-08-31]. [DB: Science Citation Index Expanded (Web of Science), EBSCOHost (nenaudotinas), MEDLINE] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
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: Science Citation Index Expanded (Web of Science), Scopus, CAB Abstracts, CSA (nenaudotinas), TOC Premier, MEDLINE, Embase] [IF: 3.970; AIF: 3.746; Q1 (2016 InCities JCR SCIE)]
7 Burnytė, Birutė; Inashkina, Inna; Lace, Baiba; Pelnena, Dita; Molytė, Alma; Grigalionienė, Kristina; Kučinskas, Vaidutis; Utkus, Algirdas. Implementing the survey of disease natural history as a tool to collect complex information on mitochondrial patients in Lithuania and Latvia // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-Supplement 1, p. 431. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, EBSCOHost (nenaudotinas)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
8 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Šliužas, Vytautas; Utkus, Algirdas. Rare case of male infertility due to monosomy X and structural rearrangement of chromosome Y // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, Vol. 24, e-suppl. 1, p. 412. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: Science Citation Index Expanded (Web of Science), EBSCOHost (nenaudotinas), MEDLINE] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
9 Tesi, Bianca; Rascon, Jelena; Chiang, Samuel; Löfstedt, Alexandra; Muller, Martha Lena; Burnytė, Birutė; Stankevičienė, Sigita; Vaičienė-Magistris, Nerija; Misevičienė, Valdonė; Kiudelienė, Rosita; Mulevičienė, Audronė; Juozapaitė, Sandra; Fasth, Anders; Nordenskjöld, Magnus; Henter, Jan-Inge; Bryceson, Yenan T; Meeths, Marie. Structural variants affecting the 5'UTR of RAB27A cause an atypical form of hemophagocytic lymphohistiocytosis // 17th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2016) : Barcelona, Spain, September 21-24, 2016 / European Society for Immunodeficiencies. Barcelona : European Society for Immunodeficiencies. 2016, p. 1-2, no. ESID6-0396.
10 Burnytė, Birutė; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Utkus, Algirdas. Novel homozygous SPG11 mutation in the molecular diagnosis of hereditary spastic paraplegia // American Society of Human Genetics 66th Annual Meeting, October 18–22, 2016, Vancouver, Canada : poster abstracts. Vancouver : ASHG. 2016, p. 1356.
11 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.
12 Burnytė, Birutė; Uktverytė, Ingrida; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Utkus, Algirdas. Paveldimos neuropatijos: epidemiologinė ir mutacijų analizė GJB1 gene // Bioateitis: gamtos ir gyvybės mokslų perspektyvos: 2016 m. jaunųjų mokslininkų konferencijos pranešimų santraukos : [2016 m. gruodžio 7 d., Vilnius] / Lietuvos mokslų akademijos Biologijos, medicinos ir geomokslų skyrius. Vilnius : Lietuvos mokslų akademijos leidykla. 2016, p. 7-8. Prieiga per internetą: <http://mail.ma.lt/components/com_rseventspro/assets/images/files/2016-12-07_JMK_pranesimu_santrauka.pdf> [žiūrėta 2017-08-07].

2015
1 Mayr, J. A.; Burnytė, Birutė; Šnarienė, R.; Feichtinger, R. G.; Zimmermann, F. A.; Lunzer, V.; Wortmann, S. B.; Baškirova, Inga; Drazdienė, Nijolė; Utkus, Algirdas; Sperl, W. Lactic acidosis and neonatal death in patient with deficiency of the E2 subunit of the pyruvate dehydrogenase complex // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. eISSN 1573-2665. 2015, Vol. 38, iss. 1, suppl, p. 201. DOI: 10.1007/s10545-015-9877-x. [DB: Science Citation Index Expanded (Web of Science), EBSCOHost (nenaudotinas), Scopus, ProQuest (nenaudotinas), MEDLINE] [IF: 3.541; AIF: 4.066; Q2 (2015 InCities JCR SCIE)]
2 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. Dordrecht : Springer. ISSN 0141-8955. 2015, Vol. 38, iss. 1, Supplement, p. 334. Prieiga per internetą: <https://doi.org/10.1007/s10545-015-9877-x> [žiūrėta 2015-09-09]. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 3.541; AIF: 4.066; Q2 (2015 InCities JCR SCIE)]
3 Stavusis, Janis; Inashkina, I; Jankevics, E; Radovica, I; Micule, I; Strautmanis, J; Naudina, M.S; Utkus, Algirdas; Burnytė, Birutė; Lace, Baiba. CAV3 gene sequence variations: National genome database and clinics // Acta neurologica Scandinavica. Malden : Wiley-Blackwell Publishing. ISSN 0001-6314. 2015, vol. 132, iss. 3, p. 185-190. DOI: 10.1111/ane.12369. [DB: Science Citation Index Expanded (Web of Science), Current Contents, BIOSIS Previews, Biological Abstracts, MEDLINE] [IF: 2.559; AIF: 3.186; Q2 (2015 InCities JCR SCIE)]
4 Čiuladaitė, Živilė; Burnytė, Birutė; Vansevičiūtė, Danutė; Dagytė, Evelina; Kučinskas, Vaidutis; Utkus, Algirdas. Clinical, cytogenetic and molecular study of a case of ring chromosome 10 // Molecular cytogenetics. London : BioMed Central Ltd. ISSN 1755-8166. 2015, Vol. 8, art. no. 29, p. [1-6]. DOI: 10.1186/s13039-015-0124-9. [DB: PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.506; AIF: 4.104; Q4 (2015 InCities JCR SCIE)]
5 Burnytė, Birutė; Kapitanova, Natalija; Uktverytė, Ingrida; Utkus, Algirdas. Naujos kartos genetiniai tyrimai, diagnozuojant paveldimas periferines neuropatijas = Next-generation sequencing in the diagnosis of hereditary peripheral neuropathies // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2015, t. 19, nr. 1, p. 13-18. Prieiga per internetą: <http://www.neuroseminarai.lt/wp-content/uploads/2017/02/Neuro_2015_Nr1_013-018.pdf>. [DB: Index Copernicus]
6 Stavusis, Janis; Inashkina, I.; Jankevics, E.; Radovica, I.; Micule, I.; Strautmanis, J.; Naudina, M.S.; Utkus, Algirdas; Burnytė, Birutė; Lace, B. Variations in LGMD genes CAV3 and FKRP // Eesti arst. Tartu : Eesti Arstide Liit. ISSN 0235-8026. eISSN 2228-1665. 2015, suppl. 1, p. 21. [DB: Scopus, INIS Atomindex (nenaudotinas)]
7 Zabulienė, Lina; Bagdžiūnienė, Airida Audronė; Burnytė, Birutė; Janavičius, Ramūnas; Urbonienė, Jurgita; Utkus, Algirdas. The Ehlers-Danlos syndrome and metastatic medullary thyroid carcinoma: a case report // Endocrine abstracts. Bristol : BioScientifica. ISSN 1470-3947. eISSN 1479-6848. 2015, Vol. 37, Abstract no. EP1310. Prieiga per internetą: <http://www.endocrine-abstracts.org/ea/0037/ECE2015AbstractBook.pdf> [žiūrėta 2015-06-01].
8 Burnytė, Birutė; Uktverytė, Ingrida; Vaitkevičius, Arūnas; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Utkus, Algirdas. GJB1 gene mutation c.34G>A in a Lithuanian family // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, 23, Supplement 1, p. 422. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]

2014
1 Guillen-Navarro, Encarna; Ballesta-Martinez, Maria Juliana; Valencia, Maria; Bueno, Ana Maria; Martinez-Glez, Victor; Lopez-Gonzales, Vanesa; Burnytė, Birutė; Utkus, Algirdas; Lapunzina, Pablo; Ruiz-Perez, Victor L. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta // American journal of medical genetics. Part A. Hoboken, NJ : Wiley-Blackwell Publishing. ISSN 1552-4825. eISSN 1552-4833. 2014, Vol. 164, Iss. 5, p. 1136-1142. DOI: 10.1002/ajmg.a.36409. [DB: Wiley InterScience, Science Citation Index Expanded (Web of Science), MEDLINE, BIOSIS Previews] [IF: 2.159; AIF: 4.263; Q3 (2014 InCities JCR SCIE)]
2 Kapitanova, N.; Čiuladaitė, Živilė; Burnytė, Birutė; Utkus, Algirdas. Clinical characterization of a patient with mosaic microdeletion 7q36.1-qter // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2014, Vol. 22, suppl. 1, p. 450. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf> [žiūrėta 2014-11-11]. [DB: ISI Web of Science (nenaudotinas), Ebsco (nenaudotinas), MEDLINE] [IF: 4.349; AIF: 4.206; Q1 (2014 InCities JCR SCIE)]
3 Dirsė, Vaidas; Burnytė, Birutė; Gineikienė, Eglė; Griškevičius, Laimonas; Utkus, Algirdas. A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation // Journal of genetics. Bangalore : Indian Academy of Sciences. ISSN 0022-1333. 2014, vol. 93, no. 2, p. 501-503. DOI: 10.1007/s12041-014-0369-9. [DB: ISI Web of Science (nenaudotinas), CABI Abstracts Databases, EBSCOHost (nenaudotinas), Scopus, PubMed, ProQuest (nenaudotinas), MEDLINE] [IF: 1.093; AIF: 4.263; Q4 (2014 InCities JCR SCIE)]

2013
1 Burnytė, Birutė; Ambrozaitytė, Laima; Utkus, Algirdas. Juvenile Huntington disease: case report // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2013, t. 17, priedas nr. 1, p. s43. Prieiga per internetą: <http://www.neuroseminarai.lt/wp-content/uploads/2017/02/Neuro_2013_Priedas_Nr1_28-52.pdf> [žiūrėta 2013-09-25]. [DB: Index Copernicus]
2 Burnytė, Birutė; Brusokienė, Gražina; Čiuladaitė, Živilė; Drazdienė, Nijolė; Utkus, Algirdas. Ring chromosome 6 in an infant with multiple congenital anomalies // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 485. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]

2012
1 Burnytė, Birutė; Utkus, Algirdas; Dirsė, Vaidas; Kučinskas, Vaidutis. Rubinšteino-Teibi sindromas - nuo protinio atsilikimo genetinių priežasčių iki išsamios klinikinės analizės: atvejo pristatymas = Rubinstein-Taybi syndrome - from genetic basis of mental retardation till clinical genetic evaluation: a case report // Sveikatos mokslai / Sveikatos apsaugos ministerija. Vilnius : Sveikata. ISSN 1392-6373. 2012, vol. 22, nr. 1, p. 78-81. Prieiga per internetą: <http://sm-hs.eu/index.php/smhs/article/view/253/pdf_1> [žiūrėta 2012-02-02]. [DB: Index Copernicus]
2 Burnytė, Birutė; Utkus, Algirdas; Gabriel, H.; Kučinskas, Vaidutis. KID syndrome: multiple joint contractures in Lithuanian patient with GJB2 gene mutation // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2012, vol. 20, suppl. 1, p. 366. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.319; AIF: 4.379; Q1 (2012 InCities JCR SCIE)]
3 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: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, MEDLINE, Embase] [IF: 4.070; AIF: 4.227; Q1 (2012 InCities JCR SCIE)]

2011
1 Burnytė, Birutė; Matulevičienė, Aušra; Dirsė, Vaidas; Kučinskas, Vaidutis. Inherited complex mosaicism associated with fragile site at 16q22 // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 142. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]