VU Medicinos fakulteto autoriaus 'Aušra Matulevičienė' publikacijų sąrašas

2022
1 Urnikytė, Alina; Pranckėnienė, Laura; Domarkienė, Ingrida; Dauengauer-Kirlienė, Svetlana; Molytė, Alma; Matulevičienė, Aušra; Pilypienė, Ingrida; Kučinskas, Vaidutis. Inherited and de novo variation in Lithuanian genomes: introduction to the analysis of the generational shift // Genes. Basel : MDPI. eISSN 2073-4425. 2022, vol. 13, iss. 4, art. no. 569, p. [1-12]. DOI: 10.3390/genes13040569. [DB: Embase, PubMed, Scopus, Science Citation Index Expanded (Web of Science)]
2 Domarkienė, Ingrida; Žukauskaitė, Gabrielė; Urnikytė, Alina; Pranckėnienė, Laura; Dauengauer-Kirlienė, Svetlana; Arasimavičius, Justas; Molytė, Alma; Matulevičienė, Aušra; Pilypienė, Ingrida; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Whole-genome sequencing data reveals higher number of structural variants in Chernobyl catastrophe clean-up workers from Lithuania // European Society of Human Genetics (ESHG) Conference 2022: hybrid conference, Vienna, Austria, June 11–14, 2022. Vienna : ESHG. 2022, p. [1]. Prieiga per internetą: <https://distribute.m-anage.com/from.storage?image=3ty5-hnKYQWgJG41h9pnAQrcE2Z02FpeE_kWGjr556mgkfcYIAiLzmTGSt2ON6rb0>.
3 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Vaitėnienė, Evelina Marija; Arasimavičius, Justas; Urnikytė, Alina; Dauengauer-Kirlienė, Svetlana; Pilypienė, Ingrida; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Detection of recent positive selection signatures in the cohort of Lithuanian Chernobyl catastrophe liquidators // European Society of Human Genetics (ESHG) Conference 2022: hybrid conference, Vienna, Austria, June 11–14, 2022. Vienna : ESHG. 2022, p. [1].
4 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Teigiamos gamtinės atrankos veikiamų genomo sričių analizė Lietuvos Černobylio katastrofos likviduotojų grupėje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos: 15-oji Lietuvos jaunųjų mokslininkų konferencija : pranešimų tezės / leidinį sudarė J. Olechnovičienė. Vilnius : Lietuvos mokslų akademija, 2022. eISBN 9789986080916. p. 28. Prieiga per internetą: <https://www.lma.lt/uploads/LMA%20leidyba/BIOATEITIS%20prane%C5%A1im%C5%B3%20tez%C4%97s_2022.pdf>.
5 Dauengauer-Kirlienė, Svetlana; Domarkienė, Ingrida; Pilypienė, Ingrida; Žukauskaitė, Gabrielė; Kučinskas, Vaidutis; Matulevičienė, Aušra. Causes of preterm birth: genetic factors in preterm birthand preterm infant phenotypes // Journal of obstetrics and gynaecology research. Hoboken : Wiley. ISSN 1341-8076. eISSN 1447-0756. 2022, first on line, p. [1-13]. DOI: 10.1111/jog.15516. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)]
6 Aleksiūnienė, Beata; Krasovskaja, Natalija; Benušienė, Eglė; Baronas, Karolis; Grigalionienė, Kristina; Meškienė, Raimonda; Utkus, Algirdas; Matulevičienė, Aušra. Familial cases with GPC3 mutations from Lithuanian cohort with overgrowth syndromes // EuroDysmorpho 2022: 32th European meeting on dysmorphology, September 14-17, 2022, Barcelona, Spain: abstract book : ERN-ITHACA. 2022, p. 34-35. Prieiga per internetą: <https://ern-ithaca.eu/wp-content/uploads/2022/09/ABSTRACT-BOOK-V4.pdf>.

2021
1 Domarkienė, Ingrida; Žukauskaitė, Gabrielė; Matulevičienė, Aušra; Arasimavičius, Justas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. ADAPT – genomic initiative to analyse adaptation in the group of Lithuanian Chernobyl liquidators // Ninth international conference on radiation in various fields of research, June 14-18, 2021, Herceg Novi, Montenegro : book of abstracts. Herceg Novi : [s.n.]. 2021, p. 17. Prieiga per internetą: <https://rad2021.rad-conference.org/vs/RAD_2021-Ingrida_Domarkiene.pdf>.
2 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Vaitėnienė, Evelina Marija; Arasimavičius, Justas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Genome association study of the Lithuanian Chernobyl catastrophe liquidators indicates potentially protective alleles for multifactorial diseases // Ninth international conference on radiation in various fields of research, June 14-18, 2021, Herceg Novi, Montenegro : book of abstracts. Herceg Novi : [s.n.]. 2021, p. 18.
3 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Vaitėnienė, Evelina Marija; Arasimavičius, Justas; Smailytė, Giedrė; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Possible protective effect of LOXL1 variant in the cohort of Chernobyl catastrophe clean-up workers // Genes. Basel : MDPI. eISSN 2073-4425. 2021, vol. 12, no. 8, art. no. 1231, p. [1-10]. DOI: 10.3390/genes12081231. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)]
4 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Vaitėnienė, Evelina Marija; Arasimavičius, Justas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. LOXL1 risk variant suggests protective effect for exfoliation syndrome and glaucoma in the cohort of Lithuanian Chernobyl catastrophe liquidators // ESHG 2021 Virtual Conference, August 28-31, 2021 : European Society of Human Genetics. 2021, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/1904>.
5 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Žukauskaitė, Gabrielė; Utkus, Algirdas. Challenge in prenatal diagnostics of severe skeletal dysplasias: a case of Achondrogenesis type 2 // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, poster no. P01.003.C / C, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/280>.
6 Šiaurytė, Kamilė; Grigalionienė, Kristina; Utkus, Algirdas; Matulevičienė, Aušra. Novel variant in DDX3X causes syndromic DDX3X related neurodevelopmental disorder // 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/753>.
7 Matulevičienė, Aušra; Žukauskaitė, Gabrielė; Morkūnienė, Aušra. Two cases of Pitt – Hopkins syndrome // EuroDysmorpho 2021: 31th European meeting on dysmorphology, September 23-25, 2021, online: abstract book. 2021, p. 64.
8 Šiaurytė, Kamilė; Aleksiūnienė, Beata; Matulevičienė, Aušra. Unknown case with complex heart, neurological and skeletal pathology // EuroDysmorpho 2021: 31th European meeting on dysmorphology, September 23-25, 2021, online: abstract book. 2021, p. 80.
9 Domarkienė, Ingrida; Žukauskaitė, Gabrielė; Matulevičienė, Aušra; Urnikytė, Alina; Kučinskas, Vaidutis; Ambrozaitytė, Laima. CNV characteristics in Chernobyl power plant catastrophe clean-up workers from Lithuania suggest unique genetic variation structure // ASHG virtual meeting, 2021 October 18-22 : American Society of Human Genetics. 2021, p. [1]. Prieiga per internetą: <https://ashg2021.ashg.org/posters/29452949/CNV-characteristics-in-Chernobyl-power-plant-catastrophe-clean-up-workers-from-Lithuania-suggest-unique-genetic-variation-structure>.
10 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Arasimavičius, Justas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Psichikos sutrikimų plataus masto genetinės asociacijos tyrimas Lietuvos Černobylio katastrofos likviduotojų grupėje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos: 14-oji Lietuvos jaunųjų mokslininkų konferencija, 2021 m. lapkričio 25 d.: pranešimų santraukos / leidinį sudarė J. Olechnovičienė, V. Kučinskas. Vilnius : Lietuvos mokslų akademija, 2021. ISBN 9789986080855. eISBN 9789986080862. p. 40. Prieiga per internetą: <http://www.lma.lt/uploads/files/2021-11-25%20BIOATEITIS%20prane%C5%A1im%C5%B3%20santraukos_internetui.pdf>.
11 Matulevičienė, Aušra; Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Association of genomic factors for oral health in the cohort of the Lithuanian Chernobyl catastrophe liquidators // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, P13.003.D / D, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/1361>.
12 Butėnaitė, Adelė; Strumila, Robertas; Lengvenytė, Aistė; Pakutkaitė, Indrė Kotryna; Morkūnienė, Aušra; Matulevičienė, Aušra; Dlugauskas, Edgaras; Utkus, Algirdas. Significant association between huntingtin gene mutation and prevalence of hopelessness, depression and anxiety symptoms = Ar yra hantingtino geno mutacijos ir dažnesnio depresijos, nevilties ir nerimo simptomų raiškos ryšys? // Acta medica Lituanica. Vilnius : Vilniaus universiteto leidykla. ISSN 1392-0138. eISSN 2029-4174. 2021, vol. 28, no. 1, p. 43-51. DOI: 10.15388/Amed.2020.28.1.4. [DB: MEDLINE, Index Copernicus]
13 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: Dimensions, ProQuest Central, PubMed Central, Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)]

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 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Grigalionienė, Kristina; Ambrozaitytė, Laima; Utkus, Algirdas. Simpson-Golabi-Behmel syndrome familial case series with an emphasis on prenatal diagnosis // 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. P01.111.C, p. 176. 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 Meyer, R.; Begemann, M.; Huebner, C.; Dey, D.; Kuechler, A.; Elgizouli, M.; Kroisel, P.; Fekete, G.; Ambrozaitytė, Laima; Matulevičienė, Aušra; Elbracht, M.; Eggermann, T. WES expands the mutational spectrum in patients with Silver-Russell syndrome features // 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. P03.56.B, p. 229-230. 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)]
4 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)]
5 Hübner, Christian Thomas; Meyer, Robert; Kenawy, Asmaa; Ambrozaitytė, Laima; Matulevičienė, Aušra; Kraft, Florian; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas. HMGA2 variants in Silver-Russell syndrome: homozygous and heterozygous occurrence // Journal of clinical endocrinology and metabolism. New York : Endocrine Society. ISSN 0021-972X. eISSN 1945-7197. 2020, vol. 105, iss. 7, art. no. dgaa273, p. 1-7. DOI: 10.1210/clinem/dgaa273. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed] [IF: 5.958; AIF: 5.323; Q1 (2020 InCities JCR SCIE)]
6 Lesinskienė, Sigita; Rojaka, Darja; Praninskienė, Rūta; Morkūnienė, Aušra; Matulevičienė, Aušra; Utkus, Algirdas. Juvenile Huntington’s disease: two case reports and a review of the literature // Journal of medical case reports. London : BioMed Central Ltd. ISSN 1752-1947. 2020, vol. 14, art. no. 173, p. [1-5]. DOI: 10.1186/s13256-020-02494-7. [DB: Embase, MEDLINE, Academic Search Premier, Scopus]
7 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Grigalionienė, Kristina; Ambrozaitytė, Laima; Utkus, Algirdas. Simpson-Golabi-Behmel syndrome familial case series with an emphasis on prenatal diagnosis // 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. P01.111.C, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/425> [žiūrėta 2020-10-20].
8 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].
9 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>.
10 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Arasimavičius, Justas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Černobylio katastrofos likviduotojų genomo tyrimai: variantai, galimai lemiantys glaukomos prevenciją // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 13-oji jaunųjų mokslininkų konferencija, 2020 m. gruodžio 4 d.: pranešimų santraukos / Lietuvos mokslų akademijos Biologijos, medicinos ir geomokslų skyrius. Gamtos tyrimų centras ; [leidinį sudarė Jadvyga Olechnovičienė, Vaidutis Kučinskas]. Vilnius : Lietuvos mokslų akademijos leidykla, 2020. ISBN 9789986080787. p. 49. Prieiga per internetą: <http://www.lma.lt/uploads/news/id1049/LMA_BIOATEITIS_gamtos%20ir%20gyvybes%20mokslu%20perspektyvos_programa-pranesimu%20tezes-taisytos.pdf> [žiūrėta 2020-12-17].

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: Science Citation Index Expanded (Web of Science), Scopus] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
2 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)]
3 Aleksiūnienė, Beata; Matulevičienė, Aušra; Ambrozaitytė, Laima; Jakutis, Virginijus; Utkus, Algirdas. Hypoplastic right ventricle, dysmorphic features and brain structural anomalies in a patient with a de novo 1p36.33p36.32 deletion // 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-P05.16, p. 879-880. 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)]
4 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)]
5 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].
6 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 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, art. no. P08.03C, p. 210-211. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7> [žiūrėta 2021-03-09]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
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 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)]
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 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, art. no. E-P05.10, p. 920. 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 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]
2 Šiaurytė, Kamilė; Matulevičienė, Aušra; Utkus, Algirdas. Dysmorphology today // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 118.
3 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].
4 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].
5 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].
6 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)]

2017
1 Sachwitz, Jana; Meyer, Robert; Fekete, György; Spranger, Stephanie; Matulevičienė, Aušra; Kučinskas, Vaidutis; Bach, Alexia; Luczay, Andrea; Brüchle, Nadina Ortiz; Eggermann, Katja; Zerres, Klaus; Elbracht, Miriam; Eggermann, Thomas. NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features // Clinical Genetics. Hoboken, NJ : Wiley-Blackwell Publishing, Inc. ISSN 0009-9163. eISSN 1399-0004. 2017, Vol. 91, Iss. 1, p. 73-78. DOI: 10.1111/cge.12803. [DB: Science Citation Index Expanded (Web of Science), CABI Abstracts Databases, Academic Search Complete, Academic Search Elite, Academic Search Premier, Current Abstracts, TOC Premier, Scopus, Academic OneFile, ProQuest Central, BIOSIS Previews, Current Contents, MEDLINE] [IF: 3.512; AIF: 3.953; Q2 (2017 InCities JCR SCIE)]
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 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.
4 Aleksiūnienė, Beata; Matulevičienė, Aušra; Ambrozaitytė, Laima; Jakutis, Virginijus; Utkus, Algirdas. Hypoplastic right ventricle, dysmorphic features and brain structural anomalies in a patient with a de novo 1p36.33p36.32 deletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P05.16. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=93d402d3-cf3b-4df4-9e30-3de4ac5a135f&cKey=8b454268-9c3d-4e31-902e-06f2510a147b&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-02].
5 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. 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].
6 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. 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].
7 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].

2016
1 Matulevičienė, Aušra; Meškienė, Raimonda; Morkūnienė, Aušra; Ambrozaitytė, Laima; Meškauskas, Raimundas; Garunkštienė, Rasa; Drazdienė, Nijolė; Utkus, Algirdas; Kučinskas, Vaidutis. Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy // Clinical dysmorphology. Philadelphia : Wolters Kluwer Health, Inc. ISSN 0962-8827. eISSN 1473-5717. 2016, vol. 25, iss. 1, p. 7-11. DOI: 10.1097/MCD.0000000000000100. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, Scopus, PubMed] [IF: 0.573; AIF: 4.064; Q4 (2016 InCities JCR SCIE)]
2 Preikšaitienė, Eglė; Benušienė, Eglė; Matulevičienė, Aušra; Grigalionienė, Kristina; Utkus, Algirdas; Kučinskas, Vaidutis. SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings // American journal of medical genetics. Part A. New York : Wiley Periodicals. ISSN 1552-4825. 2016, Vol. 170, no 3, p. 781-784. DOI: 10.1002/ajmg.a.37466. [DB: Science Citation Index Expanded (Web of Science), MEDLINE, BIOSIS Previews] [IF: 2.259; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
3 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)]
4 Utkus, Algirdas; Dagytė, Evelina; Krasovskaja, Natalija; Matulevičienė, Aušra; Manelienė, Rasmutė; Jusienė, Roma; Šalugienė, Neringa; Jasaitytė, Ilona; Račkauskienė, Skaidrė. Dauno sindromas: patarimai tėvams ir specialistams : mokymo priemonė / Algirdas Utkus, Evelina Dagytė, Natalija Krasovskaja... [et al]. Vilniaus universitetas : Vilniaus universiteto leidykla, 2016. 118 p. ISBN 9786094596650.
5 Matulevičienė, Aušra; Ambrozaitytė, Laima; Morkūnienė, Aušra. Hantingtono ligos patogenezės mechanizmai // Hantingtono ligos konferencija. Vilnius : Hantingtono ligos koordinacinis centras. 2016, p. 10-11.
6 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)]
7 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.
8 Matulevičienė, Aušra; Ambrozaitytė, Laima; Matulevičiūtė, Rugilė; Liubšys, Arūnas; Utkus, Algirdas; Kučinskas, Vaidutis. A patient with Raine syndrome due to novel mutations in FAM20C gene // Twenty-seventh European meeting on dysmorphology, 7-9 September 2016, Le Bischenberg, France [abstracts]. Bischoffsheim. 2016, p. 4.

2015
1 Aleksiūnienė, Beata; Matulevičiūtė, Rugilė; Čiuladaitė, Živilė; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Coarctation of aorta with dysmorphic features in a patient with triplication of 15q26.1-q26.3: clinical and molecular analysis // Twenty-sixth European meeting on dysmorphology, 9-11 September 2015, Strasbourg, France. Strassbourg : EuroDysmorpho. 2015, p. 27.
2 Matulevičienė, Aušra; Aleksiūnienė, Beata; Tamulienė, Laima; Liubšys, Arūnas; Čiuladaitė, Živilė; Utkus, Algirdas; Kučinskas, Vaidutis. A novel de novo dup (4) (q28.2-qter) & del (8) (pter-p23.1) due to unbalanced translocation in a girl: clinical and molecular analysis // Twenty-sixth European meeting on dysmorphology, 9-11 September 2015, Le Bischenberg. Le Bischenberg. 2015, p. 28.
3 Benušienė, Eglė; Tumėnė, Sandra; Matulevičienė, Aušra; Meškienė, Raimonda; Kučinskas, Vaidutis. Prenatally suspected and after the birth confirmed Simpson-Golabi-Behmel syndrome: familial case // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2015, Vol. 23, Supplement 1, p. 70. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
4 Aleksiūnienė, Beata; Matulevičienė, Aušra; Benušienė, Eglė. Hypoplastic left heart syndrome in a case with partial 18p monosomy and partial 20q trisomy // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 399-400. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]

2014
1 Dagytė, Evelina; Matulevičienė, Aušra; Meškienė, Raimonda; Ambrozaitytė, Laima; Morkūnienė, Aušra; Bernotas, Šarūnas; Kohlhase, Jurgen; Borozdin, W. Nail patella syndrome: two patients with the same mutation and different clinical manifestation // Twenty-fifth European Meeting on Dysmorphology, 10-12 September 2014, Strasbourg, France : [abstracts]. Strassbourg : EuroDysmorpho. 2014, p. 30. Prieiga per internetą: <http://www.readperiodicals.com/201501/3710188421.html> [žiūrėta 2015-10-22].
2 Matulevičienė, Aušra; Aleksiūnienė, Beata; Mikštienė, Violeta; Krasovskaja, Natalija; Griškevičius, Laimonas; Utkus, Algirdas; Kučinskas, Vaidutis. Dup (1) (q43–q44) & del (21) (q22.2–q22.3) characterized by facial dysmorphism, congenital heart defect and mental retardation // Twenty-fifth European Meeting on Dysmorphology, 10-12 September 2014, Strasbourg, France. Strassbourg : EuroDysmorpho. 2014, p. 45.
3 Kempa, Inga; Ambrozaitytė, Laima; Stavusis, Janis; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis; Lace, Baiba. Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations // Stomatologija / Lietuvos bendrosios praktikos gydytojų stomatologų draugija ir Lietuvos stomatologų sąjunga. Kaunas : Lietuvos bendrosios praktikos gydytojų stomatologų draugija. ISSN 1392-8589. 2014, t. 16, nr. 3, p. 94-101. Prieiga per internetą: <http://www.sbdmj.com/143/143-03.pdf> [žiūrėta 2014-10-24]. [DB: MEDLINE, Scopus]
4 Čiuladaitė, Živilė; Matulevičienė, Aušra; Bandanskytė, Aušra; Brazaitis, Andrius; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features // Journal of child neurology. Thousand Oaks : Sage Publications, Inc. ISSN 0883-0738. 2014, vol. 29, no. 3, p. 399-405. DOI: 10.1177/0883073812471429. [DB: Embase, Scopus, MLA, CAB Abstracts, Science Citation Index Expanded (Web of Science)] [IF: 1.717; AIF: 2.548; Q2 (2014 InCities JCR SCIE)]

2013
1 Morkūnienė, Aušra; Matulevičienė, Aušra; Ambrozaitytė, Laima; Meškienė, Raimonda; Meškauskas, Raimundas; Utkus, Algirdas. Frame shift mutation of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 82. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
2 Matulevičienė, Aušra; Preikšaitienė, Eglė; Linkevičienė, Laura; Radavičius, Marijus; Molytė, Alma; Utkus, Algirdas; Kučinskas, Vaidutis. Heterogeneity of oral clefts in relation to associated congenital anomalies // Medicina. Kaunas : Kauno medicinos universitetas. ISSN 1010-660X. 2013, t. 49, nr. 2, p. 61-66. Prieiga per internetą: <http://medicina.lsmuni.lt/med/1302/1302-03e.htm> [žiūrėta 2013-08-26]. [DB: Science Citation Index Expanded (Web of Science), Index Copernicus, DOAJ, MEDLINE] [IF: 0.508; AIF: 4.036; Q4 (2013 InCities JCR SCIE)]
3 Molytė, Alma; Kučinskas, Vaidutis; Matulevičienė, Aušra; Preikšaitienė, Eglė. Genotipo ir fenotipo duomenų analizė ir vizualizavimas // Computational science and techniques. Klaipėda : Klaipėdos universitetas. ISSN 2029-9966. 2013, vol. 1, no 2, p. 141-154. Prieiga per internetą: <http://journals.ku.lt/index.php/CST/article/view/78> [žiūrėta 2013-11-14].

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 Kasnauskienė, Jūratė; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Matulevičienė, Aušra; Alexandrou, Angelos; Koumbaris, George.; Sismani, Carolina; Pepalytė, Ingrida; Patsalis, Philippos C.; Kučinskas, Vaidutis. A single gene deletion on 4q28.3: PCDH18 - a new candidate gene for intellectual disability? // European journal of medical genetics. Paris : Elsevier Masson. ISSN 1769-7212. 2012, vol. 55, no. 4, p. 274-277. DOI: 10.1016/j.ejmg.2012.02.010. [DB: Embase, Scopus, Elsevier Biobase, GeoRef, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 1.685; AIF: 4.484; Q4 (2012 InCities JCR SCIE)]

2011
1 Nikopensius, Tiit; Kempa, Inga; Ambrozaitytė, Laima; Jagomägi, Triin; Saag, Mare; Matulevičienė, Aušra; Utkus, Algirdas; Krjutškov, Kaarel; Tammekivi, Veronika; Piekuse, Linda; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Klovins, Janis; Lace, Baiba; Kučinskas, Vaidutis; Metspalu, Andres. Variation in FGF1, FOXE1, and TIMP2genes is associated with nonsyndromic cleft lip with or without cleft palate // Birth defects research. Part. A: Clinical and molecular teratology. Hoboken : John Wiley & Sons INC. ISSN 1542-0752. 2011, Vol. 91, no. 4, p. 218-225. DOI: 10.1002/bdra.20791. [DB: Science Citation Index Expanded (Web of Science), BIOSIS Previews, MEDLINE]
2 Matulevičienė, Aušra; Dirsė, Vaidas; Kučinskas, Vaidutis. Duplication of chromosome 15q22 in patient with severe dysmorphic features // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 83-84. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
3 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: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
4 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)]
5 Čiuladaitė, Živilė; Matulevičienė, Aušra; Kasnauskienė, Jūratė; Aleksiūnienė, Beata; Kučinskas, Vaidutis. Small supernumerary marker chromosome derived from chromosome 3 in patient with severe psychomotor developmental delay and dysmorphism // European journal of human genetics : European human genetics conference 2011, Amsterdam, The Netherlands, 2011, May 28-31 : abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 150. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
6 Nikopensius, Tiit; Ambrozaitytė, Laima; Jagomägi, Triin; Saag, Mare; Matulevičienė, Aušra; Kučinskas, Vaidutis; Metspalu, Andres. FN1 and TIMP2 polymorphisms are associated with nonsydromic cleft lip with or without cleft palate // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2011, vol. 19, suppl. 2, p. 281. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.400; AIF: 4.314; Q1 (2011 InCities JCR SCIE)]
7 Čiuladaitė, Živilė; Kasnauskienė, Jūratė; Matulevičienė, Aušra; Preikšaitienė, Eglė; Alexandrou, Angelos; Patsalis, Philippos C.; Kučinskas, Vaidutis. A microduplication of the critical Rubinstein-Taybi deletion : a contiguous gene syndrome? // Chromosome research. Dordrecht : Springer. ISSN 0967-3849. 2011, vol. 19, suppl. 1, abstract no. 1.P45, p. S61. Prieiga per internetą: <http://www.springerlink.com/content/6453372m5087667h/fulltext.pdf> [žiūrėta 2011-08-03]. [DB: Science Citation Index Expanded (Web of Science), AgBiotech News and Information, Current Awareness in Biological Sciences, Genetics Abstracts] [IF: 3.087; AIF: 4.314; Q2 (2011 InCities JCR SCIE)]
8 Westermark, Kerstin; Byskov Holm, Birthe; Söderholm, Mirjam; Matulevičienė, Aušra. European regulation on orphan medicinal products: 10 years of experience and future perspectives // Nature reviews. Drug discovery. London : Nature Publishing Group. ISSN 1474-1776. 2011, Vol. 10, iss. 5, p. 341-349. DOI: 10.1038/nrd3445. [DB: Embase, MEDLINE, PubMed, Scopus, TOC Premier, Science Citation Index Expanded (Web of Science)] [IF: 29.008; AIF: 3.103; Q1 (2011 InCities JCR SCIE)]

2010
1 Ambrozaitytė, Laima; Uktverytė, Ingrida; Kasnauskienė, Jūratė; Matulevičienė, Aušra; Kučinskas, Vaidutis. Lūpos ir (arba) gomurio nesuaugimų geniminiai tyrimai Lietuvos pacientų grupėje // Mokslas - žmonių sveikatai : 3-oji nacionalinė mokslinė konferencija, 2010 m. balandžio 7 d.: pranešimų tezės. Kaunas, 2010. ISBN 9789955151784. p. 68.
2 Matulevičienė, Aušra; Aleksiūnienė, Beata; Dirsė, Vaidas; Kučinskas, Vaidutis. A de novo partial trisomy of distal 6p in patient with severe dysmorphic features // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2010, vol. 18, suppl. 1, p. 73-74. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2010Abstracts.pdf> [žiūrėta 2018-08-14]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.380; AIF: 4.510; Q1 (2010 InCities JCR SCIE)]
3 Nikopensius, Tiit; Jagomägi, Triin; Krjutškov, Kaarel; Tammekivi, Veronika; Saag, Mare; Prane, Inga; Piekuse, Linda; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Ambrozaitytė, Laima; Matulevičienė, Aušra; Kučinskienė, Zita Aušrelė; Lace, Baiba; Kučinskas, Vaidutis; Metspalu, Andres. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate // Birth defects research. Part. A: Clinical and molecular teratology. Hoboken : John Wiley & Sons INC. ISSN 1542-0752. 2010, Vol. 88, no 8, p. 748-756. DOI: 10.1002/bdra.20700. [DB: Science Citation Index Expanded (Web of Science), BIOSIS Previews, MEDLINE]
4 Ambrozaitytė, Laima; Uktverytė, Ingrida; Timinskas, Albertas; Utkus, Algirdas; Matulevičienė, Aušra; Kučinskas, Vaidutis. Analysis of the variety of sequence variants of SOS1 gene in cleft lip and/or palate patients of Lithuania // The American Society of Human Genetics 60th Annual Meeting, Nowember 2-6, 2010, Washington : poster abstracts. Washington : American Society of Human Genetics. 2010, p. 295.
5 Uktverytė, Ingrida; Ambrozaitytė, Laima; Timinskas, Albertas; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Lūpos ir/ar gomurio nesuaugimų SOS1 geno kandidato sekos variantų tyrimai = Analysis of the variety of sequence variants of cleft lip and/or palate vandidate gene SOS1 // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2010, t. 12, nr. 3, p. 119-122. Prieiga per internetą: <http://zurnalas.llmd.lt/lt/system/files/553908090a543f6ad49f050cd199729aeb1a40d6.pdf> [žiūrėta 2018-07-02]. [DB: Index Copernicus]
6 Kučinskas, Vaidutis; Matulevičienė, Aušra. Paveldimos ligos - ar tikrai katastrofa šeimoje // Vaiko sveikatos enciklopedija. Kaunas : Šviesa, 2010. ISBN 9785430056025. p. 46-53.
7 Coppieters, Frauke; Casteels, Ingele; Meire, Françoise; Jaegere, Sarah de; Hooghe, Sally; Regemorter, Nicole van; Esch, Hilde van; Matulevičienė, Aušra; Nunes, Luis; Meersschaut, Valerie; Walraedt, Sophie; Standaert, Lieve; Coucke, Paul; Hoeben, Heidi; Kroes, Hester Y.; Walle, Johan Vande; Ravel, Thomy de; Leroy, Bart P.; Baere, Elfride de. Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes // Human mutation. Hoboken : John Wiley & Sons, Inc. ISSN 1059-7794. 2010, vol. 31, no. 10, p. E1709-E1766. Prieiga per internetą: <http://onlinelibrary.wiley.com/doi/10.1002/humu.21336/pdf> [žiūrėta 2013-10-01]. [DB: Science Citation Index Expanded (Web of Science), Chemical Abstracts (CAplus), Biological Abstracts] [IF: 5.956; AIF: 4.674; Q1 (2010 InCities JCR SCIE)]

2009
1 Matulevičienė, Aušra; Ambrozaitytė, Laima; Preikšaitienė, Eglė; Utkus, Algirdas; Linkevičienė, Laura; Aleksiūnienė, Beata; Dagytė, Evelina; Čiuladaitė, Živilė; Šliužas, Vytautas; Kučinskas, Vaidutis. Spectrum of oral clefts in the light of contemporary research study // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2009, vol. 17, suppl. 2, p. 74. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2009Abstracts.pdf> [žiūrėta 2018-11-21]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.564; AIF: 4.368; Q2 (2009 InCities JCR SCIE)]
2 Ambrozaitytė, Laima; Matulevičienė, Aušra; Kučinskas, Vaidutis. Investigation of three candidate genes in the cleft lip and/or palate patients group of Lithuania // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2009, vol. 17, suppl. 2, p. 237. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2009Abstracts.pdf> [žiūrėta 2018-11-07]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.564; AIF: 4.368; Q2 (2009 InCities JCR SCIE)]
3 Nikopensius, Tiit; Ambrozaitytė, Laima; Ludwig, Kerstin U.; Birnbaum, Stefanie; Jagomägi, Triin; Saar, Mare; Matulevičienė, Aušra; Linkevičienė, Laura; Herms, Stefan; Knapp, Michael; Hoffmann, Per; Nöthen, Markus M.; Kučinskas, Vaidutis; Metspalu, Andres; Mangold, Elisabeth. Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients // American journal of medical genetics. Part A. ISSN 1552-4825. 2009, vol. 149A, no. 11, p. 2551-2553. DOI: 10.1002/ajmg.a.33024. [DB: BIOSIS Previews, MEDLINE, Wiley InterScience, Science Citation Index Expanded (Web of Science)] [IF: 2.404; AIF: 4.515; Q3 (2009 InCities JCR SCIE)]
4 Samaitienė, Rūta; Matulevičienė, Aušra; Songailienė, Jurgita; Grikinienė, Jurgita; Bierau, J.; Kučinskas, Vaidutis; Spaapen, Leo. A case of Lesch-Nyhan syndrome: course of the disease, clinical and laboratory findings // 10th international conference of Baltic child neurology association, May 6-9, 2009 : abstracts. Tartu : Baltic child neurology association. 2009, [p. 1].

2008
1 Linkevičienė, Laura; Zaleckas, Linas; Olekas, Juozas; Martusevičiūtė, Jūratė; Utkus, Algirdas; Matulevičienė, Aušra; Radavičius, Marijus. The influence of cheiloplasty on maxillary cleft size // Stomatologija: vol. 10, suppl. 5 : 3-oji Baltijos šalių odontologijos mokslinė konferencija, 2008 m. lapkričio 6-8 d., Vilnius. ISSN 1392-8589. 2008, vol.. 10, suppl. 5, p. 21. [DB: MEDLINE, Scopus]
2 Kučinskas, Vaidutis; Ambrozaitytė, Laima; Matulevičienė, Aušra; Preikšaitienė, Eglė. Scan of 640 SNPs of 43 candidate cleft lip or palate genes in the nonsyndromic cleft lip or palate patients of Lithuania // ASHG 58th annual meeting, Philadelphia, November 11-15, 2008 : abstracts. Philadelphia. 2008, p. 391.
3 Preikšaitienė, Eglė; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Clinical heterogeneity in cases of oral clefts with multiple congenital anomalies // 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. 112-113. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
4 Matulevičienė, Aušra; Aleksiūnienė, Beata; Krasovskaja, Natalija; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Rare unbalenced aberration of chromosome 18 in patient with severe dysmorphic features and poor prognosis // 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. 152. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
5 Ambrozaitytė, Laima; Matulevičienė, Aušra; Kučinskas, Vaidutis. Association study of microsattelite markers of five candidate loci in the cleft lip and palate patients of 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. 300. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2008Abstracts.pdf> [žiūrėta 2019-09-11]. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
6 Ambrozaitytė, Laima; Kasnauskienė, Jūratė; Uktverytė, Ingrida; Šliužas, Vytautas; Matulevičienė, Aušra; Preikšaitienė, Eglė; Utkus, Algirdas; Kučinskas, Vaidutis. Genomic investigation of Lithuanian patients with cleft lip and/or palate // Stomatologija. ISSN 1392-8589. 2008, t. 10, suppl. 5, p. 14-15. [DB: MEDLINE, Scopus]
7 Kučinskas, Vaidutis; Matulevičienė, Aušra. Paveldimos ligos - ar tikrai katastrofa šeimoje? // Šeimos sveikatos enciklopedija. Vilnius, 2008. ISBN 9785430047900. p. 250-257.
8 Treigys, Povilas; Marcinkevičius, Virginijus; Tiešis, Vytautas; Matulevičienė, Aušra; Ambrozaitytė, Laima; Kučinskas, Vaidutis. Duomenų, susijusių su lūpos ir/ar gomurio nesuaugimais, kaupimo analizė = Use case analysis for cleft lip and/or palate data storage // Laboratorinė medicina. ISSN 1392-6470. 2008, t. 10, nr. 4, p. 197-202. [DB: Index Copernicus]
9 Songailienė, Jurgita; Matulevičienė, Aušra; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Spaapen, Leo J.M. 4-hidroksisviesto acidurija ir Diušeno raumenų distrofija: dvi retos monogeninės ligos, diagnozuotos vienam pacientui Lietuvoje = 4-hydroxybutyric acidura and muscular dystrphy, Duchenne type: one patient with two rare monogenic diseases in Lithuania // Laboratorinė medicina. Vilnius. ISSN 1392-6470. 2008, t. 10, nr. 4, p. 218-223. [DB: Index Copernicus]

2007
1 Zarakauskaitė, Eglė; Matulevičienė, Aušra; Utkus, Algirdas; Linkevičienė, Laura; Kučinskas, Vaidutis. Orofacial clefts with associated anomalies in Lithuania // 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. 81. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2007Abstracts.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
2 Matulevičienė, Aušra; Aleksiūnienė, Beata; Krasovskaja, Natalija; Kučinskas, Vaidutis. Down syndrome as a result of a 3:1 segregation of t(5,21) in the mother // Chromosome research. ISSN 0967-3849. 2007, vol. 15, suppl. 1, p. 45-46. [DB: Science Citation Index Expanded (Web of Science), SpringerLink] [IF: 3.469; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
3 Matulevičienė, Aušra; Songailienė, Jurgita; Bierau, J.; Kučinskas, Vaidutis; Spaapen, L. Severe neurological symptoms conceal inheritable disorder caused by partial deficiency of hypoxanthine-guanine phosphoribosyltransferase as Lesch Nyhan syndrome variant - The first case detected in Lithuania // Journal of inherited metabolic disease. ISSN 0141-8955. 2007, vol. 30, suppl. 1, p. 135. [DB: Science Citation Index Expanded (Web of Science), SpringerLink] [IF: 1.668; AIF: 4.142; Q3 (2007 InCities JCR SCIE)]

2006
1 Aleksiūnienė, Beata; Matulevičienė, Aušra; Kučinskas, Vaidutis. Three different balanced translocations present the same phenotypic signs of Down syndrome // 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. 16. [DB: Index Copernicus]
2 Matulevičienė, Aušra; Aleksiūnienė, Beata; Kučinskas, Vaidutis. The familial reciprocal translocation t(8;10)(q24.1;q21.3) associated with spectrum of phenotypic signs of trichorhinophalangeal syndrome, type I // 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. 35. [DB: Index Copernicus]

2004
1 Vasiliauskas, Arūnas; Utkus, Algirdas; Matulevičienė, Aušra; Linkevičienė, Laura; Kučinskas, Vaidutis. The incidence of cleft lip and/or palate among newborns in Lithuania, 1993-1997 = Lūpos ir (ar) gomurio nesuaugimų dažnumas Lietuvos naujagimių grupėje 1993-1997 metais // Acta medica Lituanica. ISSN 1392-0138. 2004, vol. 11, no. 2, p. 1-6. [DB: Index Copernicus]
2 Zarakauskaitė, Eglė; Priščepionkaitė, Žaneta; Utkus, Algirdas; Matulevičienė, Aušra. Asmenų su lūpos ir (arba) gomurio skeltumu dermatoglifika = Dermatoglyphics in persons with cleft lip/palate // Laboratorinė medicina. Vilnius : Laboratorinės diagnostikos centras. ISSN 1392-6470. 2004, Nr. 1, p. 3-7.