VU Medicinos fakulteto autoriaus 'Aušra Morkūnienė' publikacijų sąrašas

2023
1 Asadauskaitė, Greta; Morkūnienė, Aušra; Utkus, Algirdas; Burnytė, Birutė. Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 12 // Brain and development. Amsterdam : Elsevier B.V. ISSN 0387-7604. eISSN 1872-7131. 2023, vol. 45, iss. 3, p. 185-190. DOI: 10.1016/j.braindev.2022.11.003. [DB: Science Citation Index Expanded (Web of Science), Scopus]
2 Kalinauskienė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Morkūnienė, Aušra; Utkus, Algirdas; Preikšaitienė, Eglė. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // Medicina. Basel : MDPI. ISSN 1010-660X. eISSN 1648-9144. 2023, vol. 59, iss. 6, art. no. 1156, p. [1-8]. DOI: 10.3390/ medicina59061156. [DB: Science Citation Index Expanded (Web of Science), Scopus]
3 Burnytė, Birutė; Asadauskaitė, Greta; Morkūnienė, Aušra; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Clinical and genetic spectrum in a cohort of Lithuanian patients with limb girdle muscular dystrophy // ASHG annual meeting 2023, Washington, November 1-5 : [abstracts] : The American Society of Human Genetics. 2023, abstract no. P3422, p. [1]. Prieiga per internetą: <https://eppro01.ativ.me/src/EventPilot/php/express/web/planner.php?id=ASHG23>.
4 Burnytė, Birutė; Senkevičiūtė, Greta; Morkūnienė, Aušra; Braždžiūnaitė, Deimantė; Utkus, Algirdas. Clinical and genetic characterisation of Lithuanian patients with muscle laminopathies // Journal of neuromuscular diseases: 4th International Meeting on Laminopathies, Madrid, 9-12 May, 2023. Amsterdam : IOS Press. ISSN 2214-3599. eISSN 2214-3602. 2023, vol. 10, no. S2, p. S9. DOI: 10.3233/JND-239001. [DB: Science Citation Index Expanded (Web of Science)]

2022
1 Malcorps, Matilde; Amor-Barris, Silvia; Burnytė, Birutė; Vilimienė, Ramunė; Armirola‑Ricaurte, Camila; Grigalionienė, Kristina; Morkūnienė, Aušra; Vaitkevičius, Arūnas; De Vriendt, Els; Baets, Jonathan; Scherer, Steven S.; Ambrozaitytė, Laima; Utkus, Algirdas; Jordanova, Albena; Peeters, Kristien. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling // Orphanet journal of rare diseases. London : BMC. eISSN 1750-1172. 2022, vol. 17, iss. 1, art. no. 374, p. [1-11]. DOI: 10.1186/s13023-022-02541-0. [DB: Science Citation Index Expanded (Web of Science), Scopus]

2021
1 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.
2 Siavrienė, Evelina; Petraitytė, Gunda; Burnytė, Birutė; Morkūnienė, Aušra; Mikštienė, Violeta; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report // BMC musculoskeletal disorders. London : BMC. eISSN 1471-2474. 2021, vol. 22, iss. 1, art. no. 1020, p. [1-8]. DOI: 10.1186/s12891-021-04920-3. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed]
3 Malcorps, Matilde; Burnytė, Birutė; Amor-Barris, Silvia; Morkūnienė, Aušra; Ambrozaitytė, Laima; Ekshteyn, Alexandra; Armirola-Ricaurte, Camila; Morant, Laura; De Vriendt, Els; Bleyenberg, Astrid; Jordanova, Albena; Peeters, Kristien. Genetic and functional characterization of a novel HINT1 variant with a potential founder effect in Lithuania // Journal of the peripheral nervous system: 2021 Peripheral Nerve Society virtual event. Hoboken : Wiley. ISSN 1085-9489. eISSN 1529-8027. 2021, vol. 26, iss. 3, p. 402. DOI: 10.1111/jns.12460. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.188; AIF: 4.974; Q2 (2021 InCities JCR SCIE)]
4 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: Index Copernicus, MEDLINE]

2020
1 Burnytė, Birutė; Morkūnienė, Aušra; Grigalionienė, Kristina; Ambrozaitytė, Laima; Bunevičiūtė, Ramunė; Vaitkevičius, Arūnas; Preikšaitienė, Eglė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Utkus, Algirdas. Novel HINT1 variant identified in Lithuanian patients with autosomal recessive axonal neuropathy with neuromyotonia // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.45.A, p. 440-441. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
2 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.38.C, p. 437-438. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
3 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: Scopus, Academic Search Premier, MEDLINE, Embase]
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 // 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].
5 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 Siavrienė, Evelina; Petraitytė, Gunda; Mikštienė, Violeta; Rančelis, Tautvydas; Maldžienė, Živilė; Morkūnienė, Aušra; Byčkova, Jekaterina; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report // BMC Medical Genetics. London : BioMed Central Ltd. ISSN 1471-2350. 2019, vol. 20, art. no. 127, p. [1-7]. DOI: 10.1186/s12881-019-0859-y. [DB: Academic Search Premier, Academic Search Complete, Academic OneFile, BIOSIS Previews, Current Contents, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.585; AIF: 4.091; Q4 (2019 InCities JCR SCIE)]
2 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: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
3 Preikšaitienė, Eglė; Laimutė, R.; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Developmental delay, congenital heart defect and cleft palate in a patient with 1q22q23.1 microdeletion // 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-P08.05, p. 921-922. 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 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 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. P10.09A, p. 322. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7.pdf> [žiūrėta 2021-03-10]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]

2018
1 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]
2 Ambrozaitytė, Laima; Benušienė, Eglė; Krasovskaja, Natalija; Bakšienė, Marija; Butkevičienė, Eglė; Aleksiūnienė, Beata; Dagytė, Evelina; Grigalionienė, Kristina; Laimutė, Rita; Meškienė, Raimonda; Mikštienė, Violeta; Morkūnienė, Aušra; Šliužas, Vytautas; Kučinskas, Vaidutis; Utkus, Algirdas. The complexity of genetic diagnostics of prenatal cases // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S18. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [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 Aleksiūnienė, Beata; Preikšaitienė, Eglė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas. A de novo 1q22q23.1 interstitial microdeletion in a girl with intellectual disability and multiple congenital anomalies including congenital heart defect // Cytogenetic and genome research. Basel : Karger Publishers. ISSN 1424-8581. eISSN 1424-859X. 2018, vol. 154, no 1, p. 1-6. DOI: 10.1159/000486947. [IF: 1.423; AIF: 4.963; Q4 (2018 InCities JCR SCIE)]
6 Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Regelskytė, Vaiva; Vaitkevičius, Arūnas; Kučinskas, Vaidutis; Utkus, Algirdas. A report of a family of intermediate Charcot-Marie-Tooth disease with concomitant mutations in the GNB4 and DNM2 genes // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/2259> [žiūrėta 2018-07-25].
7 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.
8 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)]
9 Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Praninskienė, Rūta; Ambrozaitytė, Laima; Utkus, Algirdas. Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene // European journal of human genetics: Abstracts from the 50th European Society of human genetics conference: posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, suppl., art. no. P10.35C, p. 437-438. DOI: 10.1038/s41431-018-0247-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]

2017
1 Preikšaitienė, Eglė; Tumienė, Birutė; Maldžienė, Živilė; Pranckevičienė, Erinija; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion // Ophthalmic genetics. Philadelphia : Taylor & Francis Inc. ISSN 1381-6810. eISSN 1744-5094. 2017, Vol. 38, no 4, p. 383-386. DOI: 10.1080/13816810.2016.1227452. [DB: Academic Search Complete, Academic Search Premier, Current Abstracts, Embase, Scopus, PubMed, Current Contents, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 1.574; AIF: 3.285; Q3 (2017 InCities JCR SCIE)]
2 Cimbalistienė, Loreta; Burnytė, Birutė; Černiauskienė, Vilija; Morkūnienė, Aušra; Ambrozaitytė, Laima; Janavičius, Ramūnas; Utkus, Algirdas. Novel hemizygous mutation of TAZ gene in a boy with atypical Barth syndrome // Journal of Inborn Errors of Metabolism and Screening. Thousand Oaks, CA : Sage Publications Ltd. ISSN 2326-4098. eISSN 2326-4594. 2017, Vol. 5, p. 242. DOI: 10.1177/2326409817722292. [DB: DOAJ]
3 Preikšaitienė, Eglė; Laimutė, Rita; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Developmental delay, congenital heart defect and cleft palate in a patient with 1q22q23.1 microdeletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. E-P08.05. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5c74c3f8-9546-46e1-9052-674617837b85&cKey=af50768f-4104-40df-bd53-22899fe68467&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-09-28].
4 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].
5 Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Praninskienė, Rūta; Ambrozaitytė, Laima; Utkus, Algirdas. Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. P10.35C. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=2d379845-aecd-4ea0-a85f-876226664d8d&cKey=b379bbc1-abdf-4fb5-9505-1d418bb8a5ec&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f> [žiūrėta 2017-10-03].
6 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: PubMed, Scopus, MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 0.573; AIF: 4.064; Q4 (2016 InCities JCR SCIE)]
2 Matulevičienė, Aušra; Ambrozaitytė, Laima; Morkūnienė, Aušra. Hantingtono ligos patogenezės mechanizmai // Hantingtono ligos konferencija. Vilnius : Hantingtono ligos koordinacinis centras. 2016, p. 10-11.
3 Benušienė, Eglė; Rachlevičiūtė, Marija; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas. A novel TAZ gene mutation detected prenatally in a family with Barth syndrome // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, Vol. 24, e-suppl. 1, p. 408. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf> [žiūrėta 2016-06-23]. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]
4 Preikšaitienė, Eglė; Ambrozaitytė, Laima; Maldžienė, Živilė; Morkūnienė, Aušra; Cimbalistienė, Loreta; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis. Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies = Intelektinės negalios genetinių priežasčių nustatymas naudojant viso genomo analizės molekulines technologijas // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademija. ISSN 1392-0138. eISSN 2029-4174. 2016, Vol. 23, no 2, p. 73-85. DOI: 10.6001/actamedica.v23i2.3324. [DB: Index Copernicus, TOC Premier, Current Abstracts]
5 Voisin, N.; Shamseddin, H.; Tran Mau Them, F.; Preikšaitienė, Eglė; Fish, R.; Gueneau, L.; Ambrozaitytė, Laima; Morkūnienė, Aušra; Guex, N.; Roechert, B.; Pradervand, S.; Xenarios, I.; Neerman-Arbez, M.; Shaw-Smith, C.; Kučinskas, Vaidutis; Chelly, J.; Alkuraya, F.S.; Reymond, A. KIAA1109 variants are associated with a severe syndromic brain development disorder with arthrogryposis // American Society of Human Genetics 66th Annual Meeting, October 18–22, 2016, Vancouver, Canada : platform abstracts. Bethesda, Maryland : The American Society of Human Genetics. 2016, p. 80. Prieiga per internetą: <http://www.ashg.org/2016meeting/pdf/ASHG2016-plenary_platform-abstracts.pdf> [žiūrėta 2016-11-14].
6 Bakšienė, Marija; Benušienė, Eglė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome // Balkan journal of medical genetics. Skopje : Macedonian Academy of Sciences and Arts. ISSN 1311-0160. 2016, Vol. 19, No. 2, p. 95-99. DOI: 10.1515/bjmg-2016-0043. [DB: PubMed, Biobase, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.463; AIF: 4.064; Q4 (2016 InCities JCR SCIE)]

2015
1 Voisin, Norine; Ambrozaitytė, Laima; Morkūnienė, Aušra; Gueneau, Lucie; Männik, Katrin; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pranckevičienė, Erinija; Rančelis, Tautvydas; Cimbalistienė, Loreta; Guex, Nicolas; Kučinskas, Vaidutis; Reymond, Alexandre. DCHS2, a novel autosomal recessive cause of Van Maldergem Syndrome // 65th Annual Meeting of The American Society of Human Genetics, October 6-10, 2015, Baltimore MD : poster abstracts. Baltimore : The American Society of Human Genetics. 2015, p. 1080. Prieiga per internetą: <http://www.ashg.org/2015meeting/pdf/57715_Posters.pdf> [žiūrėta 2015-10-13].
2 Preikšaitienė, Eglė; Caro, Alfonso; Benušienė, Eglė; Oltra, Silvestre; Orellana, Carmen; Morkūnienė, Aušra; Roselló, Mónica Pilar ; Kasnauskienė, Jūratė; Monfort, Sandra; Kučinskas, Vaidutis; Mayo, Sonia; Martinez, Francisco. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome // American journal of medical genetics. Part A. New York : Wiley-Liss, Inc. ISSN 1552-4825. eISSN 1552-4833. 2015, vol. 167, iss. 6, p. 1342-1348. DOI: 10.1002/ajmg.a.36999. [DB: MEDLINE, Science Citation Index Expanded (Web of Science), BIOSIS Previews] [IF: 2.082; AIF: 4.104; Q3 (2015 InCities JCR SCIE)]
3 Ambrozaitytė, Laima; Morkūnienė, Aušra; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pranckevičienė, Erinija; Rančelis, Tautvydas; Cimbalistienė, Loreta; Gueneau, Lucie; Männik, Katrin ; Voisin, Norine; Reymond, Alexandre ; Kučinskas, Vaidutis. UNIGENE: Familial intellectual disability in Lithuanian patients // European journal of human genetics: European human genetics conference joint with the British Society of Genetics Medicine: June 6 – 9, 2015, Glasgow, Scotland, United Kingdom Abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 157. [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]

2014
1 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].

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: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]

2008
1 Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Linkage disequilibrium between SNPs at the TGFA, TGFB3, GABRB3, RARA, and BCL3 loci and nonsyndromic cleft lip and (or) cleft palate in the Lithuanian population // Journal of Maxillofacial and Oral Surgery. New Delhi : Association of Oral and Maxillofacial Surgeons of India. ISSN 0972-8279. 2008, Vol. 7, no. 2, p. 214-218.

2007
1 Morkūnienė, Aušra; Steponavičiūtė, Danguolė; Utkus, Algirdas; Kučinskas, Vaidutis. Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania // Journal of applied genetics. ISSN 1234-1983. 2007, vol. 48, no. 1, p. 89-91. DOI: 10.1007/BF03194663. [DB: Science Citation Index Expanded (Web of Science), BIOSIS Previews] [IF: 0.967; AIF: 3.670; Q4 (2007 InCities JCR SCIE)]
2 Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas; Kučinskas, Vaidutis. IRF6 gene's nucleotide sequence changies in patients with nonsyndromic orofacial clefting from 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. 206. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.003; AIF: 4.316; Q2 (2007 InCities JCR SCIE)]
3 Morkūnienė, Aušra; Steponavičiūtė, Danguolė; Ambrozaitytė, Laima; Utkus, Algirdas; Linkevičienė, Laura; Kučinskas, Vaidutis. Are TGFA, TGFB3, GABRB3, RARA and BCL3 loci associated with nonsyndromic orofacial clefts? A Lithuanian study = Ar TGFA, TGFB3, GABRB3, RARA ir BCL3 genai susiję su nesindrominiais burnos ir veido įskilumais? Lietuvos tyrimai // Biologija. ISSN 1392-0146. 2007, nr. 1, p. 1-6. [DB: CAB Abstracts, VINITI, TOC Premier, Current Abstracts (EBSCO), Zoological Record]

2006
1 Kučinskas, Vaidutis; Steponavičiūtė, Danguolė; Morkūnienė, Aušra; Chung, M.Y.; Šliužas, Vytautas; Chen, Y.J.; Linkevičienė, Laura; Utkus, Algirdas. Locating genes for oral-facial clefting in humans // Human genomics and public health : international symposium and XXXI annual conference of Indian Society of Human Genetics, February 27 - March 1, 2006 : abstracts. New Delhi. 2006, p. 7-8.
2 Kučinskas, Vaidutis; Steponavičiūtė, Danguolė; Morkūnienė, Aušra; Chung, M.Y.; Šliužas, Vytautas; Chen, Y.J.; Linkevičienė, Laura; Utkus, Algirdas. Investigation of the genetic basis of oral-facial clefting in humans // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2006, vol. 14, suppl. 1, p. 348. [IF: 3.697; AIF: 4.370; Q2 (2006 InCities JCR SCIE)]
3 Končiūtė, Kristina; Morkūnienė, Aušra; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. Identification of BCR-ABL translocation using RT-PCR technique for diagnosis of CML and ALL // 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, Vilnius 2006, p. 31. [DB: Index Copernicus]
4 Morkūnienė, Aušra; Končiūtė, Kristina; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. QF-PCR in prenatal diagnosis of fetal 13, 18, 21 chromosomal aneuploidies // 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. 36. [DB: Index Copernicus]
5 Morkūnienė, Aušra; Steponavičiūtė, Danguolė; Kasnauskienė, Jūratė; Kučinskas, Vaidutis. Nucleotide sequence changes in the MSX1 and IRF6 genes in Lithuanian patients with nonsyndromic orofacial clefting = MSX1 ir IRF6 genų nukleotidų sekų pokyčiai, nustatyti lietuvos pacientams su veidinės srities įskilumais // Acta medica Lituanica. ISSN 1392-0138. 2006, vol. 13, no. 4, p. 219-225. [DB: Current Abstracts, TOC Premier, Current Abstracts (EBSCO), Index Copernicus]

2005
1 Kučinskas, Vaidutis; Morkūnienė, Aušra; Kasperavičiūtė, Dalia; Utkus, Algirdas; Linkevičienė, Laura. Linking candidate-genes to orofacial clefts in Lithuania population // The American society of human genetics 55th annual meeting: abstracts, October 25-29, 2005, USA. 2005, p. 300.
2 Morkūnienė, Aušra; Utkus, Algirdas; Kasperavičiūtė, Dalia; Linkevičienė, Laura; Kučinskas, Vaidutis. Linking TGFA gene to Cleft Lip with or without cleft plate // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2005, vol. 13, suppl. 1, p. 318. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.251; AIF: 4.417; Q2 (2005 InCities JCR SCIE)]
3 Morkūnienė, Aušra; Kučinskas, Vaidutis. Validation and selection of an informative set of single-nucleotide-polymorphisms in the TGFB3 gene = Verifikavimas bei informatyviausio vieno nukleotido polimorfimų rinkinio Parinkimas TGFB3 gene // Acta medica Lituanica. ISSN 1392-0138. 2005, t. 12, no. 2, p. 1-7. [DB: Current Abstracts (EBSCO), TOC Premier]

2003
1 Morkūnienė, Aušra; Kučinskas, Vaidutis. Nepusiausvira sankiba tarp vieno nukleotido polimorfizmų ketvirtoje chromosomoje ir alelių dažnių pasiskirstymas Lietuvos populiacijoje = Linkage disequilibrium between single nucleotide polymorphisms and allele-frequency distribution in Lithuanian population // Laboratorinė medicina : medicinos žurnalas, leidžiamas kartą per mėnesį. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2003, Nr. 3(19), p. 3-7.