VU Medicinos fakulteto autoriaus 'Laima Ambrozaitytė' publikacijų sąrašas

2024
1 Mazgelytė, Eglė; Ambrozaitytė, Laima; Naskauskienė, Gintarė; Tumienė, Birutė; Visockienė, Žydrūnė. The genetic spectrum of maturity-onset diabetes of the young in the Lithuanian diabetic population // European journal of human genetics: Abstracts from the 56th European Human Genetics Conference: hybrid conference, Glasgow, Scotland, UK, June 10–13, 2023 : e-posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2024, vol. 32, suppl. 1, abstract no. EP07.023, p. 166-167. DOI: 10.1038/s41431-023-01481-y. [DB: Science Citation Index Expanded (Web of Science)]

2023
1 Grigalionienė, Kristina; Burnytė, Birutė; Balkelienė, Danutė; Ambrozaitytė, Laima; Utkus, Algirdas. Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion // Molecular genetics & genomic medicine. Hoboken : Wiley. ISSN 2324-9269. 2023, vol. 11, no. 1, art. no. e2059, p. [1-6]. DOI: 10.1002/mgg3.2059. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
2 Strumila, Robertas; Zdanavičius, Linas; Badaras, Robertas; Dlugauskas, Edgaras; Lesinskienė, Sigita; Matiekus, Eimantas; Marcinkevičius, Martynas; Vencevičienė, Lina; Utkus, Algirdas; Kaminskas, Andrius; Petrėnas, Tomas; Songailienė, Jurgita; Ambrozaitytė, Laima; Lengvenytė, Aistė. Significantly elevated phosphatidylethanol levels in recent suicide attempters, but not in depressed controls and healthy volunteers: Possible role of CRP and inflammation // Journal of psychiatric research. Oxford : Pergamon-Elsevier science Ltd. ISSN 0022-3956. eISSN 1879-1379. 2023, vol. 158, p. 245-254. DOI: 10.1016/j.jpsychires.2022.12.043. [DB: Science Citation Index Expanded (Web of Science), Scopus, Social Sciences Citation Index (Web of Science)]
3 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Matulevičienė, Aušra; Dauengauer-Kirlienė, Svetlana; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Identifying genomic signatures of positive selection to predict protective genomic loci in the cohort of Lithuanian clean-up workers of the Chornobyl nuclear disaster // Current issues in molecular biology. Basel : MDPI. eISSN 1467-3045. 2023, vol. 45, iss. 4, p. 2972-2983. DOI: 10.3390/cimb45040195. [DB: Science Citation Index Expanded (Web of Science), Scopus]
4 Siavrienė, Evelina; Petraitytė, Gunda; Mikštienė, Violeta; Maldžienė, Živilė; Sasnauskienė, Aušra; Žitkutė, Vilmantė; Ambrozaitytė, Laima; Rančelis, Tautvydas; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Molecular and functional characterisation of a novel intragenic 12q24.21 deletion resulting in MED13L haploinsufficiency syndrome // Medicina. Basel : MDPI. ISSN 1010-660X. eISSN 1648-9144. 2023, vol. 59, iss. 7, art. no. 1225, p. [1-14]. DOI: 10.3390/medicina59071225. [DB: Science Citation Index Expanded (Web of Science), Scopus]
5 Rančelis, Tautvydas; Domarkienė, Ingrida; Ambrozaitytė, Laima; Utkus, Algirdas. Implementing core genes and an omnigenic model for behaviour traits prediction in genomics // Genes. Basel : MDPI. eISSN 2073-4425. 2023, vol. 14, iss. 8, art. no. 1630, p. [1-11]. DOI: 10.3390/genes14081630. [DB: Science Citation Index Expanded (Web of Science), Scopus]
6 Kazlauskas, Evaldas; Smailytė, Giedrė; Domarkienė, Ingrida; Kučinskas, Vaidutis; Matulevičienė, Aušra; Elklit, Ask; Žukauskaitė, Gabrielė; Ambrozaitytė, Laima. Psychological distress 35 years after the Chornobyl accident in the Lithuanian clean-up workers // Global health action : Taylor and Francis Ltd. ISSN 1654-9716. eISSN 1654-9880. 2023, vol. 16, iss. 1, art. no. 2233843, p. [1-5]. DOI: 10.1080/16549716.2023.2233843. [DB: MEDLINE, Science Citation Index Expanded (Web of Science), Scopus]
7 Grigalionienė, Kristina; Burnytė, Birutė; Ambrozaitytė, Laima; Utkus, Algirdas. Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease // Orphanet journal of rare diseases. London : BMC. eISSN 1750-1172. 2023, vol. 18, art. no. 307, p. 1-10. DOI: 10.1186/s13023-023-02921-0. [DB: Science Citation Index Expanded (Web of Science)]
8 Samaitė, Katažyna; Domarkienė, Ingrida; Žukauskaitė, Gabrielė; Rančelis, Tautvydas; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Genome integrity variation effects of ionising radiation in the Lithuanian Chornobyl catastrophe clean-up workers // European Human Genetics Conference: hybrid conference, Glasgow, Scotland, UK, June 10–13, 2023. Vienna : Wiener Medizinische Akademie GmbH. 2023, poster no. EP14.003, p. [1]. Prieiga per internetą: <https://eshg2018.floq.live/event/eshg2023/search?objectClass=programelement&objectId=645954e15d10763cee46af2a&type=detail>.
9 Grigalionienė, Kristina; Burnytė, Birutė; Utkus, Algirdas; Ambrozaitytė, Laima. Nuclear DNA changes in patients with suspected mitochondrial disorder // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference, June 11–14, 2022, Vienna, Austria: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. EP07.001, p. 149. DOI: 10.1038/s41431-023-01339-3. [DB: Science Citation Index Expanded (Web of Science)]
10 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 the Lithuanian Chernobyl catastrophe clean-up workers // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference, June 11–14, 2022, Vienna, Austria: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. EP20.002, p. 309. DOI: 10.1038/s41431-023-01339-3. [DB: Science Citation Index Expanded (Web of Science)]

2022
1 Petraitytė, Gunda; Mikštienė, Violeta; Siavrienė, Evelina; Cimbalistienė, Loreta; Maldžienė, Živilė; Rančelis, Tautvydas; Vaitėnienė, Evelina Marija; Ambrozaitytė, Laima; Dapkūnas, Justas; Dzindzalieta, Ramūnas; Pranckevičienė, Erinija; Kučinskas, Vaidutis; Utkus, Algirdas; Preikšaitienė, Eglė. Donor splice site variant in SLC9A6 causes Christianson syndrome in a Lithuanian family: a case report // Medicina. Kaunas; Basel : LSMU ; MDPI AG. ISSN 1010-660X. eISSN 1648-9144. 2022, vol. 58, no. 3, art. no. 351, p. [1-11]. DOI: 10.3390/medicina58030351. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.600; AIF: 6.700; Q3 (2022 InCities JCR SCIE)]
2 Laukienė, Romena; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas; Tamošiūnas, Algirdas Edvardas. Diagnostic significance of FNAB miRNA expression in papillary thyroid carcinoma // Diagnostics. Basel : MDPI. eISSN 2075-4418. 2022, vol. 12, art. no. 1384, p. [1-14]. DOI: 10.3390/diagnostics12061384. [DB: Science Citation Index Expanded (Web of Science), Scopus]
3 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>.
4 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].
5 Žukauskaitė, Gabrielė; Domarkienė, Ingrida; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Genomic positive selection signature analysis in the cohort of the Lithuanian Chernobyl catastrophe clean-up workers // 22nd EAA congress – 15th ISGA congress – 5th international conference of evolutionary medicine, August 24-27, 2022 Vilnius, Lithuania : abstract book. Vilnius : Vilniaus universiteto leidykla, 2022. ISBN 9786090707593. eISBN 9786090707609. p. 219. (Vilnius University Proceedings, eISSN 2669-0233 ; vol. 27). DOI: 10.15388/EAA-ISGA-ICEMMeeting.2022.
6 Samaitė, Katažyna; Domarkienė, Ingrida; Žukauskaitė, Gabrielė; Kučinskas, Vaidutis; Ambrozaitytė, Laima. Possibly protective genomic variants against ionizing radiation in DNA homologous recombination repair genes // European Society of Human Genetics (ESHG) Conference 2022: hybrid conference, Vienna, Austria, June 11–14, 2022. Vienna : ESHG. 2022, abstract no. EP25.007, p. [1].
7 Kučinskas, Vaidutis; Preikšaitienė, Eglė; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas. Genomo persitvarkymai, esant įgimtiems centrinės nervų sistemos raidos sutrikimams: kilmė, genominiai mechanizmai, funkcinės ir klinikinės pasekmės. Darbų apžvalga = Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. eISSN 2424-5917. 2022, t. 26, Nr. 1, p. 15-26. DOI: 10.15388/NS.2022.26.3. [DB: Academic Search Ultimate]
8 Mazgelytė, Eglė; Naskauskienė, Gintarė; Tumienė, Birutė; Ambrozaitytė, Laima; Visockienė, Žydrūnė. Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in Lithuania: a single centre study // Lietuvos endokrinologija. Kaunas : Lietuvos sveikatos mokslų universiteto Endokrinologijos institutas, Lietuvos endokrinologų draugija. ISSN 1392-7213. 2022, t. 31, Nr. 3-4, p. 71.
9 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]
10 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>.
11 Laukienė, Romena; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Tamošiūnas, Algirdas Edvardas; Sytnikova, Viktorija. miRNR reikšmė papilinės skydliaukės karcinomos metastazėms kaklo limfmazgiuose diagnozuoti = The role of miRNA in papillary thyroid carcinoma metastases in cervical lymph nodes diagnosis // Laboratorinė medicina. Vilnius : Lietuvos laboratorinës medicinos draugija. ISSN 1392-6470. 2022, t. 24, Nr. 2, p. 63-68. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/1074/2022>. [DB: Index Copernicus]
12 Adomaitytė, Toma; Domarkienė, Ingrida; Karčiauskaitė, Dovilė; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Urnikytė, Alina; Kučinskienė, Zita Aušrelė; Mažeikienė, Asta; Burokienė, Neringa; Coj, Andrejus; Kučinskas, Vaidutis. Associations of genetic variants and inflammation markers in the Lithuanian population // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021 : e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P24.028.C, p. 592. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
13 Janonytė, Neda; Domarkienė, Ingrida; Karčiauskaitė, Dovilė; Kučinskienė, Zita Aušrelė; Burokienė, Neringa; Mažeikienė, Asta; Coj, Andrejus; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Urnikytė, Alina; Kučinskas, Vaidutis. Association between indicators of lipid metabolism and genetic profile in the Lithuanian population // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P24.032.C, p. 593-594. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
14 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 // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, art. no. P13.003.D, p. 434. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]
15 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 // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, p. 598. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]

2021
1 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 Ambrozaitytė, Laima; Brilingaitė, Agnė; Bukauskas, Linas; Domarkienė, Ingrida; Rančelis, Tautvydas. Human characteristics and genomic factors as behavioural aspects for cybersecurity // Augmented Cognition: 15th International Conference, AC 2021 Held as Part of the 23rd HCI International Conference, HCII 2021 / Schmorrow D.D., Fidopiastis C.M. (eds). Cham : Springer International Publishing, 2021. ISBN 9783030781132. eISBN 9783030781149. p. 333-350. (Lecture Notes in Computer Science, ISSN 0302-9743 ; vol 12776). DOI: 10.1007/978-3-030-78114-9_23. [DB: Scopus]
4 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: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
5 Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Ambrozaitytė, Laima; Barauskienė, Lina; Meškienė, Raimonda; Arasimavičius, Justas; Irnius, Algimantas; Kučinskas, Vaidutis. Association study of taste preference: Analysis in the Lithuanian population // Food science & nutrition. Hoboken : Wiley of Science. ISSN 2048-7177. 2021, vol. 9, no. 8, p. 4310-4321. DOI: 10.1002/fsn3.2401. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 3.553; AIF: 5.236; Q2 (2021 InCities JCR SCIE)]
6 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>.
7 Janonytė, Neda; Domarkienė, Ingrida; Karčiauskaitė, Dovilė; Kučinskienė, Zita Aušrelė; Burokienė, Neringa; Mažeikienė, Asta; Coj, Andrejus; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Urnikytė, Alina; Kučinskas, Vaidutis. Association between indicators of lipid metabolism and genetic profile in the Lithuanian population // 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/1888>.
8 Adomaitytė, Toma; Domarkienė, Ingrida; Karčiauskaitė, Dovilė; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Urnikytė, Alina; Kučinskienė, Zita Aušrelė; Mažeikienė, Asta; Burokienė, Neringa; Coj, Andrejus; Kučinskas, Vaidutis. Associations of genetic variants and inflammation markers in the Lithuanian population // 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/2199>.
9 Ažukaitis, Karolis; Ambrozaitytė, Laima; Burnytė, Birutė; Grigalionienė, Kristina; Mazur, Gabija; Ruzgienė, Dovilė; Čerkauskienė, Rimantė; Jankauskienė, Augustina. Value and diagnostic yield of targeted next generation sequencing in children with suspected genetic kidney disease: Lithuanian tertiary center experience // Pediatric nephrology: Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021. New York : Springer. ISSN 0931-041X. eISSN 1432-198X. 2021, vol. 36, p. 3451. DOI: 10.1007/s00467-021-05210-9. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.652; AIF: 3.911; Q2 (2021 InCities JCR SCIE)]
10 Strumila, Robertas; Lengvenytė, Aistė; Ambrozaitytė, Laima; Balkelienė, Danutė; Utkus, Algirdas; Dlugauskas, Edgaras. CYP2C19 polymorphisms are associated with severity of depression at initial evaluation and after the treatment independently of the prescribed medications: 4 weeks prospective study // Psychiatric genetics : Wolters Kluwer Health. ISSN 0955-8829. 2021, vol. 31, no. 5, p. 177-185. DOI: 10.1097/YPG.0000000000000287. [DB: Science Citation Index Expanded (Web of Science), Scopus, PsycInfo, MEDLINE] [IF: 2.574; AIF: 4.958; Q3 (2021 InCities JCR SCIE)]
11 Domarkienė, Ingrida; Ambrozaitytė, Laima; Bukauskas, Linas; Rančelis, Tautvydas; Sütterlin, Stefan; Knox, Benjamin James; Maennel, Kaie; Maennel, Olaf; Parish, Karen; Lugo, Ricardo Gregorio; Brilingaitė, Agnė. CyberGenomics: application of behavioral genetics in cybersecurity // Behavioral sciences. Basel : MDPI. eISSN 2076-328X. 2021, vol. 11, iss. 11, art. no. 152, p. [1-15]. DOI: 10.3390/bs11110152. [DB: Social Sciences Citation Index (Web of Science), Scopus, PubMed]
12 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>.
13 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>.
14 Laukienė, Romena; Jakubkevičius, Valentinas; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Utkus, Algirdas. Dysregulation of microRNAs as the risk factor of lymph node metastasis in papillary thyroid carcinoma: Systematic review // Endokrynologia Polska. Gdansk : Via Medica. ISSN 0423-104X. eISSN 2299-8306. 2021, vol. 72, no. 2, p. 145-152. DOI: 10.5603/EP.A2021.0010. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 1.569; AIF: 5.717; Q4 (2021 InCities JCR SCIE)]
15 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>.
16 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)]
17 Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaitytė, Laima; Burnytė, Birutė; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas. One test for all: whole exome sequencing signifcantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome // Orphanet journal of rare diseases. London : BioMed Central Ltd. eISSN 1750-1172. 2021, vol. 16, art. no. 42, p. [1-10]. DOI: 10.1186/s13023-021-01683-x. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed]

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 Grigalionienė, Kristina; Burnytė, Birutė; Vansevičiūtė, Danutė; Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Utkus, Algirdas. Molecular mitochondrial DNA analysis in patients with suspected mitochondrial disorder // 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. P06.32.A, p. 295-296. 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 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)]
4 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)]
5 Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Domarkienė, Ingrida; Rančelis, Tautvydas; Kučinskas, Vaidutis. Frequency analysis of potentially protective genome variants in the Lithuanian population // 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. P19.080.C, p. 728. 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)]
6 Preikšaitienė, Eglė; Voisin, Norine; Gueneau, Lucie; Benušienė, Eglė; Krasovskaja, Natalija; Blažytė, Evelina Marija; Ambrozaitytė, Laima; Rančelis, Tautvydas; Reymond, Alexandre; Kučinskas, Vaidutis. Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families // American journal of human genetics. Cambridge, MA : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2020, vol. 182, iss. 3, p. 536-542. DOI: 10.1002/ajmg.a.61453. [DB: Embase, MEDLINE, Academic Search Premier, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 11.025; AIF: 4.666; Q1 (2020 InCities JCR SCIE)]
7 Siavrienė, Evelina; Preikšaitienė, Eglė; Maldžienė, Živilė; Mikštienė, Violeta; Rančelis, Tautvydas; Ambrozaitytė, Laima; Gueneau, Lucie; Reymond, Alexandre; Kučinskas, Vaidutis. A de novo 13q31.3 microduplication encompassing the miR-17∼92 cluster results in features mirroring those associated with Feingold syndrome 2 // Gene. Amsterdam : Elsevier. ISSN 0378-1119. eISSN 1879-0038. 2020, vol. 753, art. no. 144816, p. [1-6]. DOI: 10.1016/j.gene.2020.144816. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.688; AIF: 4.666; Q2 (2020 InCities JCR SCIE)]
8 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: PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 5.958; AIF: 5.323; Q1 (2020 InCities JCR SCIE)]
9 Grigalionienė, Kristina; Burnytė, Birutė; Vansevičiūtė, Danutė; Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Utkus, Algirdas. Molecular mitochondrial DNA analysis in patients with suspected mitochondrial disorder // 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. P06.32.A, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/789>.
10 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].
11 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>.
12 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].
13 Grigalionienė, Kristina; Burnytė, Birutė; Ambrozaitytė, Laima; Balkelienė, Danutė; Utkus, Algirdas. Mitochondrijų DNR variantų įvairovė asmenų su įtariama mitochondriopatija grupėje // 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. 50. Prieiga per internetą: <http://www.lma.lt/uploads/news/id1049/LMA_BIOATEITIS_gamtos%20ir%20gyvybes%20mokslu%20perspektyvos_programa-pranesimu%20tezes-taisytos.pdf> [žiūrėta 2020-12-18].
14 Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Domarkienė, Ingrida; Rančelis, Tautvydas; Kučinskas, Vaidutis. Frequency analysis of potentially protective genome variants in the Lithuanian population // 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, P19.080.C, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/2086>.

2019
1 Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Domarkienė, Ingrida; Rančelis, Tautvydas; Kučinskas, Vaidutis. Protekcinių genomo variantų analizė lietuvių populiacijoje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 12-oji jaunųjų mokslininkų konferencija, 2019 m. gruodžio 11 d.: programa ir pranešimų santraukos. Vilnius : Lietuvos mokslų akademijos leidykla. 2019, p. 30. Prieiga per internetą: <http://www.lma.lt/uploads/news/id743/2019-12-11_BIOATEITIS_programa-pranesimu_santraukos.pdf>.
2 Dlugauskas, Edgaras; Strumila, Robertas; Lengvenytė, Aistė; Ambrozaitytė, Laima; Dagytė, Evelina; Molytė, Alma; Navickas, Alvydas; Utkus, Algirdas. Analysis of Lithuanian CYP2D6 polymorphism and its relevance to psychiatric care of the local population // Nordic journal of psychiatry. Abingdon : Taylor & Francis Ltd. ISSN 0803-9488. eISSN 1502-4725. 2019, vol. 73, iss. 1, p. 31-35. DOI: 10.1080/08039488.2018.1548648. [DB: PsycInfo, MEDLINE, Scopus, Social Sciences Citation Index (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 1.780; AIF: 3.640; Q3 (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: Scopus, Science Citation Index Expanded (Web of Science)] [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 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)]
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: Scopus, Science Citation Index Expanded (Web of Science)] [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 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)]
9 Siavrienė, Evelina; Preikšaitienė, Eglė; Maldžienė, Živilė; Ambrozaitytė, Laima; Gueneau, L.; Reymond, A.; Kučinskas, Vaidutis. Microduplication of the 13q31.3 miR17-92 cluster results in a syndrome with features opposite to those associated with Feingold syndrome 2 // 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. P08.02B, p. 210. 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)]
10 Pranckėnienė, Laura; Jakaitienė, Audronė; Ambrozaitytė, Laima; Kučinskas, Vaidutis. Impact and rates of exonic de novo mutations in patients with intellectual disability // 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. P08.33A, p. 226. 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)]
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 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)]
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 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)]
13 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, p. 912. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]

2018
1 Gueneau, Lucie; Fish, Richard J.; Shamseldin, Hanan E.; Voisin, Norine; Tran Mau-Them, Frederic; Preikšaitienė, Eglė; Monroe, Glen R.; Lai, Angeline; Putoux, Audrey; Allias, Fabienne; Ambusaidi, Qamariya; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Delafontaine, Julien; Guex, Nicolas; Hashem, Mais; Kurdi, Wesam; Jamuar, Saumya Shekhar; Ying, Lim J.; Bonnard, Carine; Pippucci, Tommaso; Pradervand, Sylvain; Roechert, Bernd; van Hasselt, Peter M.; Wiederkehr, Michael; Wright, Caroline F.; Xenarios, Ioannis; van Haaften, Gijs; Shaw-Smith, Charles; Schindewolf, Erica M.; Neerman-Arbez, Marguerite; Sanlaville, Damien; Lesca, Gaetan; Guibaud, Laurent; Reversade, Bruno; Chelly, Jamel; Kučinskas, Vaidutis; Alkuraya, Fowzan S.; Reymond, Alexandre. KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis // The American journal of human genetics : Cell Press. ISSN 0002-9297. eISSN 1537-6605. 2018, Vol. 102, p. 116-132. DOI: 10.1016/j.ajhg.2017.12.002. [DB: Science Citation Index Expanded (Web of Science), Scopus, Academic Search Premier, Chemical abstracts, Embase, MEDLINE] [IF: 9.924; AIF: 3.940; Q1 (2018 InCities JCR SCIE)]
2 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 Ambrozaitytė, Laima; Grigalionienė, Kristina; Domarkienė, Ingrida; Gudlevičienė, Živilė; Utkus, Algirdas. Preimplantation genetic diagnostics - Lithuanian status // Laboratorinė medicina. Vilnius : Lietuvos laboratorinës medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1(77), p. 113. [DB: Index Copernicus]
4 Braždžiūnaitė, Deimantė; Cimbalistienė, Loreta; Ambrozaitytė, Laima; Utkus, Algirdas. Early puberty in Xp11.22p23 microduplication syndrome // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1(77), p. 115.
5 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]
6 Aleksiūnienė, Beata; Ambrozaitytė, Laima; Dagytė, Evelina; Laimutė, Rita; Molytė, Alma; Utkus, Algirdas. Identification of rare copy number variants in patients with congenital heart diseases // 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]
7 Baronas, Karolis; Rančelis, Tautvydas; Pranculis, Aidas; Domarkienė, Ingrida; Ambrozaitytė, Laima; Kučinskas, Vaidutis. Analysis of known genome variants related to alcohol use disorder in Lithuanian group and other European populations // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S19. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
8 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]
9 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]
10 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]
11 Rančelis, Tautvydas; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Kučinskas, Vaidutis. Whole exome sequencing methods aid in detecting more frequent pathogenic variants of rare diseases in small populations // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S37. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19].
12 Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Rančelis, Tautvydas; Kavaliauskienė, Ingrida; Kučinskas, Vaidutis. Evaluation of automated next generation sequencing data analysis pipeline // Laboratorinė medicina : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, Spec. suppl. p. S42. Prieiga per internetą: <https://www.balm2018.lt/wp-content/uploads/2018/05/Lab_Med_2018_SPEC.pdf> [žiūrėta 2018-06-19]. [DB: Index Copernicus]
13 Baronas, Karolis; Dagytė, Evelina; Dlugauskas, Edgaras; Ambrozaitytė, Laima; Utkus, Algirdas. Clinical applications of pharmacogenetic testing // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 114. [DB: Index Copernicus]
14 Braždžiūnaitė, Deimantė; Laimutė, Rita; Aleksiūnienė, Beata; Dagytė, Evelina; Ambrozaitytė, Laima; Benušienė, Eglė; Cimbalistienė, Loreta; Utkus, Algirdas. Molecular karyotyping: clinical utility and practice // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 115. [DB: Index Copernicus]
15 Strupaitė, Rasa; Ambrozaitytė, Laima; Meškienė, Raimonda; Cimbalistienė, Loreta; Strupaitė-Šakalienė, Ieva; Utkus, Algirdas. Overview of the Lithuanian retinitis pigmentosa group // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 117.
16 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)]
17 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P04.05, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4323> [žiūrėta 2018-07-25].
18 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].
19 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].
20 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].
21 Siavrienė, Evelina; Preikšaitienė, Eglė; Maldžienė, Živilė; Ambrozaitytė, Laima; Gueneau, L.; Reymond, A.; Kučinskas, Vaidutis. Microduplication of the 13q31.3 miR17-92 cluster results in a syndrome with features opposite to those associated with Feingold syndrome 2 // 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. P08.02B / B, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/1771> [žiūrėta 2018-07-26].
22 Pranckėnienė, Laura; Jakaitienė, Audronė; Ambrozaitytė, Laima; Kučinskas, Vaidutis. Impact and rates of exonic de novo mutations in patients with intellectual disability // 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. P08.33A / A, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/1806> [žiūrėta 2018-07-26].
23 Baronas, Karolis; Rančelis, Tautvydas; Pranculis, Aidas; Domarkienė, Ingrida; Ambrozaitytė, Laima; Kučinskas, Vaidutis. Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort = Nauji su AVS susiję genomo variantai Lietuvos kohortoje // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademijos leidykla. ISSN 1392-0138. eISSN 2029-4174. 2018, vol. 25, no. 1, p. 7-13. DOI: 10.6001/actamedica.v25i1.3698. [DB: Academic Search Complete, Index Copernicus, Index Academicus, PubMed]
24 Pranckėnienė, Laura; Jakaitienė, Audronė; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Kučinskas, Vaidutis. Insights into de novo mutation variation in Lithuanian exome // Frontiers in genetics. Lausanne : Frontiers media SA. ISSN 1664-8021. 2018, vol. 9, no 315, p. 1-8. DOI: 10.3389/fgene.2018.00315. [DB: Science Citation Index Expanded (Web of Science), Scopus, Embase] [IF: 3.517; AIF: 3.940; Q2 (2018 InCities JCR SCIE)]
25 Strupaitė, Rasa; Ambrozaitytė, Laima; Meškienė, Raimonda; Cimbalistienė, Loreta; Strupaitė-Šakalienė, Ieva; Utkus, Algirdas. Clinical heterogeneity of the Lithuanian retinitis pigmentosa group // Acta medica Lituanica. Vilnius : Lietuvos mokslų akademijos leidykla. ISSN 1392-0138. eISSN 2029-4174. 2018, vol. 25, suppl. 1, p. 41-42. Prieiga per internetą: <http://www.lmaleidykla.lt/ojs/public/journals/1/AML2018priedas.pdf> [žiūrėta 2018-09-17]. [DB: PubMed, Academic Search Complete, Index Academicus, Index Copernicus]
26 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.
27 Žukauskaitė, Gabrielė; Ambrozaitytė, Laima; Rančelis, Tautvydas; Kavaliauskienė, Ingrida; Kučinskas, Vaidutis. Naujos kartos sekoskaitos duomenų automatinio analizės algoritmo bei skirtingų praturtinimo sistemų įvertinimas naudojant Sanger sekoskaitą = Evaluation of automated next generation sequencing data analysis pipeline and different enrichment systems using Sanger sequencing // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, t. 20, nr. 2, p. 123-129. [DB: Index Copernicus]
28 Aleksiūnienė, Beata; Ambrozaitytė, Laima; Molytė, Alma; Kučinskas, Vaidutis; Utkus, Algirdas. Retų kopijų skaičiaus pokyčių įvertinimas įgimtų širdies ydų grupėje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 11-oji jaunųjų mokslininkų konferencija, 2018 m. gruodžio 14 d.: pranešimų santraukos. Vilnius : Lietuvos mokslų akademijos leidykla. 2018, p. 12. Prieiga per internetą: <http://www.lma.lt/uploads/2017-12-07_BIOATEITIS_pranesimu_santraukos.pdf> [žiūrėta 2019-01-22].
29 Strupaitė, Rasa; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Ašoklis, Rimvydas Stanislovas; Utkus, Algirdas. X-linked juvenile retinoschisis: phenotypic and genetic characterization // International journal of ophthalmology. Xi'an : IJO Press. ISSN 2222-3959. eISSN 2227-4898. 2018, vol. 11, iss. 11, p. 1875-1878. DOI: 10.18240/ijo.2018.11.22. [DB: DOAJ, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.189; AIF: 2.551; Q4 (2018 InCities JCR SCIE)]
30 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)]
31 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)]
32 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 Burokienė, Neringa; Domarkienė, Ingrida; Ambrozaitytė, Laima; Uktverytė, Ingrida; Meškienė, Raimonda; Karčiauskaitė, Dovilė; Kasiulevičius, Vytautas; Šapoka, Virginijus; Kučinskas, Vaidutis; Kučinskienė, Zita Aušrelė. Classical rather than genetic risk factors account for high cardiovascular disease prevalence in Lithuania: A cross-sectional population study // Advances in medical sciences. Bialystok : Elsevier Sp. z o.o. on behalf of Medical University of Bialystok. ISSN 1896-1126. eISSN 1898-4002. 2017, Vol. 62, Iss. 1, p. 121-128. DOI: 10.1016/j.advms.2016.08.005. [DB: MEDLINE, Scopus, Index Copernicus, Academic Search Complete, Academic Search Premier, Science Citation Index Expanded (Web of Science)] [IF: 2.064; AIF: 3.035; Q3 (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: Science Citation Index Expanded (Web of Science), Scopus, CAB Abstracts, Embase, MEDLINE] [IF: 2.028; AIF: 4.640; Q2 (2017 InCities JCR SCIE)]
3 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.
4 Rančelis, Tautvydas; Arasimavičius, Justas; Ambrozaitytė, Laima; Kavaliauskienė, Ingrida; Domarkienė, Ingrida; Karčiauskaitė, Dovilė; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing // Genetics research. New York : Cambridge University Press. ISSN 0016-6723. eISSN 1469-5073. 2017, Vol. 99, Art. No. e6. DOI: 10.1017/S0016672317000040. [DB: Mathematical Reviews, CABI Abstracts Databases, Chemical abstracts, Science Citation Index Expanded (Web of Science)] [IF: 1.059; AIF: 3.953; Q4 (2017 InCities JCR SCIE)]
5 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: Scopus, PsycInfo, MEDLINE, Embase, Science Citation Index Expanded (Web of Science)] [IF: 1.544; AIF: 3.502; Q4 (2017 InCities JCR SCIE)]
6 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]
7 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. 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].
8 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. 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].
9 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].
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. 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. 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 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].
13 Gueneau, L.; Fish, R.; Shamseddin, H.; Voisin, N.; Tran Mau-Them, F.; Preikšaitienė, Eglė; Monroe, G.; Allias, F.; Ambosaidi, Q.; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Delafontaine, J.; Guex, N.; Hashem, M.; Kučinskas, Vaidutis. KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no C20.4 [p. 1]. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=0fb9a463-9c2b-4c02-a57f-4b81921261b7&cKey=12027f35-dcba-49a4-bcfd-38f9c6dedde1&mKey=%7b15A3630E-7769-4D64-A80A-47F190AC2F4F%7d> [žiūrėta 2017-10-03].
14 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].
15 Kučinskas, Vaidutis; Ambrozaitytė, Laima; Cimbalistienė, Loreta; Strupaitė, Rasa; Ašoklis, Rimvydas Stanislovas; Utkus, Algirdas. Novel RS1 gene mutations of X-linked retinoschysis Lithuanian patients // American Society of Human Genetics 67th Annual Meeting, October 17-21, 2017, Orlando, Florida : poster abstracts. Rockville : ASHG. 2017, Abstract 1110F; p. 370. Prieiga per internetą: <https://www.ashg.org/2017meeting/pdf/ASHG-2017_Poster-Abstracts.pdf> [žiūrėta 2017-11-09].
16 Pranckėnienė, Laura; Jakaitienė, Audronė; Ambrozaitytė, Laima; Domarkienė, Ingrida; Kavaliauskienė, Ingrida; Meškienė, Raimonda; Rančelis, Tautvydas; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. The composition and intensity of de novo mutations in the Lithuanian exome // American Society of Human Genetics 67th Annual Meeting, October 17-21, 2017, Orlando, Florida : poster abstracts. Rockville : ASHG. 2017, Abstract 2339T, p. 988. Prieiga per internetą: <https://www.ashg.org/2017meeting/pdf/ASHG-2017_Poster-Abstracts.pdf> [žiūrėta 2017-11-09].
17 Pranckėnienė, Laura; Jakaitienė, Audronė; Ambrozaitytė, Laima; Kučinskas, Vaidutis. De novo mutacijų ir jų intensyvumo analizė lietuvių triadų grupėje // Bioateitis: gamtos ir gyvybės mokslų perspektyvos : 10-oji jaunųjų mokslininkų konferencija, 2017 m. gruodžio 7 d.: pranešimų santraukos. Vilnius : Lietuvos mokslų akademijos leidykla. 2017, p. 10-11. Prieiga per internetą: <http://www.lma.lt/uploads/2017-12-07_BIOATEITIS_pranesimu_santraukos.pdf> [žiūrėta 2018-03-27].

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 Mikštienė, Violeta; Jakaitienė, Audronė; Byčkova, Jekaterina; Gradauskienė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Tumienė, Birutė; Matulevičienė, Aušra; Ambrozaitytė, Laima; Uktverytė, Ingrida; Domarkienė, Ingrida; Rančelis, Tautvydas; Cimbalistienė, Loreta; Lesinskas, Eugenijus; Kučinskas, Vaidutis; Utkus, Algirdas. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population // BMC genetics. London : BioMed Central Ltd. ISSN 1471-2156. 2016, Vol. 17, p. art. no 45 [1-12]. DOI: 10.1186/s12863-016-0354-9. [DB: Embase, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
3 Sachwitz, Jana; Strobl-Wildemann, Getrud; Fekete, György; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndromelike phenotypes // BMC Medical Genetics. London : BioMed Central Ltd. ISSN 1471-2350. 2016, Vol. 17, Art. No. 20. DOI: 10.1186/s12881-016-0280-8. [DB: MEDLINE, Current Contents, BIOSIS Previews, ProQuest Central, Academic OneFile, TOC Premier, Scopus, Academic Search Premier, Academic Search Complete, Science Citation Index Expanded (Web of Science)] [IF: 2.198; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
4 Matulevičienė, Aušra; Ambrozaitytė, Laima; Morkūnienė, Aušra. Hantingtono ligos patogenezės mechanizmai // Hantingtono ligos konferencija. Vilnius : Hantingtono ligos koordinacinis centras. 2016, p. 10-11.
5 Urnikytė, Alina; Domarkienė, Ingrida; Stoma, Svetlana; Ambrozaitytė, Laima; Uktverytė, Ingrida; Meškienė, Raimonda; Kasiulevičius, Vytautas; Burokienė, Neringa; Kučinskas, Vaidutis. CNV analysis in the Lithuanian population // BMC genetics. London : BioMed Central Ltd. ISSN 1471-2156. 2016, Vol. 17, Art. No. 64. DOI: 10.1186/s12863-016-0373-6. [DB: Embase, Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 2.266; AIF: 4.064; Q3 (2016 InCities JCR SCIE)]
6 Aleksiūnienė, Beata; Ambrozaitytė, Laima; Utkus, Algirdas. Comparative whole genome hybridisation methods in molecular diagnostics // Eesti arst. Tartu : Eesti Arstide Liit. ISSN 0235-8026. 2016, Vol. 95, Suppl. 1, p. 33. [DB: Embase, INIS Collection Search]
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 Barauskienė, Lina; Uktverytė, Ingrida; Meškienė, Raimonda; Domarkienė, Ingrida; Ambrozaitytė, Laima; Arasimavičius, Justas; Irnius, Algimantas; Kučinskas, Vaidutis. Association of sweet taste perception in the general population of Lithuanians // 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. 82.
9 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)]
10 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]
11 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.
12 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.
13 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.
14 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].
15 Pranculis, Aidas; Rančelis, Tautvydas; Ambrozaitytė, Laima; Uktverytė, Ingrida; Domarkienė, Ingrida; Burokienė, Neringa; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. The prevalence of rare variants potentially important for the response to medicines used for CVD treatment in the Lithuanian population // Journal of pharmacogenomics & pharmacoproteomics. Los Angeles : Omics Publishing Group. ISSN 2153-0645. 2016, Vol. 7, no 2, art. no 1000157 [p. 1-6]. DOI: 10.4172/2153-0645.1000157. [DB: Biotechnology & Bioengineering Abstracts, Genetics Abstracts, Biological Sciences Database, PubMed, CABI Abstracts Databases]
16 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)]
17 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 Kučinskas, Vaidutis; Rančelis, Tautvydas; Domarkienė, Ingrida; Pranckevičienė, Erinija; Uktverytė, Ingrida; Ambrozaitytė, Laima. Profile of pathogenic alleles in healthy Lithuanian population // 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. 483.
2 Voisin, Norine; Ambrozaitytė, Laima; Morkūnienė, Aušra; Gueneau, Lucie; Männik, Katrin; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pranckevičienė, Erinija; Rančelis, Tautvydas; Cimbalistienė, Loreta; Guex, Nicolas; Kučinskas, Vaidutis; Reymond, Alexandre. DCHS2, a novel autosomal recessive cause of Van Maldergem Syndrome // 65th Annual Meeting of The American Society of Human Genetics, October 6-10, 2015, Baltimore MD : poster abstracts. Baltimore : The American Society of Human Genetics. 2015, p. 1080. Prieiga per internetą: <http://www.ashg.org/2015meeting/pdf/57715_Posters.pdf> [žiūrėta 2015-10-13].
3 Pranckevičienė, Erinija; Ambrozaitytė, Laima; Uktverytė, Ingrida; Utkus, Algirdas; Kučinskas, Vaidutis. Galaxy in teaching computational methods of genome analysis for master degree students in Medical Genetics program at the Faculty of Medicine, Vilnius University // Galaxy Community Conference 2015, 6-8th July 2015, Norwich, UK : posters. Norwich. 2015, Art. No. P05. Prieiga per internetą: <http://gcc2015.tsl.ac.uk/Posters/> [žiūrėta 2015-12-16].
4 Ambrozaitytė, Laima; Morkūnienė, Aušra; Čiuladaitė, Živilė; Preikšaitienė, Eglė; Pranckevičienė, Erinija; Rančelis, Tautvydas; Cimbalistienė, Loreta; Gueneau, Lucie; Männik, Katrin ; Voisin, Norine; Reymond, Alexandre ; Kučinskas, Vaidutis. UNIGENE: Familial intellectual disability in Lithuanian patients // European journal of human genetics: European human genetics conference joint with the British Society of Genetics Medicine: June 6 – 9, 2015, Glasgow, Scotland, United Kingdom Abstracts. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 157. [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
5 Domarkienė, Ingrida; Uktverytė, Ingrida; Ambrozaitytė, Laima; Meškienė, Raimonda; Burokienė, Neringa; Kasiulevičius, Vytautas; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. Evaluation of CVD genetic risk in the Lithuanian population // 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 / European Society of Human Genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 330-331. [DB: Science Citation Index Expanded (Web of Science), PubMed, MEDLINE] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
6 Urnikytė, Alina; Domarkienė, Ingrida; Uktverytė, Ingrida; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis. Genomic diversity and distribution of CNVs in Lithuanian population // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 332-333. [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
7 Uktverytė, Ingrida; Domarkienė, Ingrida; Ambrozaitytė, Laima; Meškienė, Raimonda; Kasiulevičius, Vytautas; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. Large scale genotyping key to hidden genetic diversity of the population of Lithuania // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2015, Vol. 23, Supplement 1, p. 341. [DB: MEDLINE/PubMed (nenaudotinas), EBSCOHost (nenaudotinas), Science Citation Index Expanded (Web of Science)] [IF: 4.580; AIF: 4.099; Q1 (2015 InCities JCR SCIE)]
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: 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. 422. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [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 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: Scopus, MEDLINE]
3 Mažeikienė, Asta; Jakaitienė, Audronė; Arasimavičius, Justas; Domarkienė, Ingrida; Uktverytė, Ingrida; Ambrozaitytė, Laima; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. Association of serum carotenoid concentrations with single nucleotide polymorphisms IN APOE, BCMO1, HL and FABP genes // Carotenoid science. Japanese Society for carotenoid research. ISSN 1880-5671. 2014, Vol. 18, Utah, USA, 29th June-4th July, 2014, p. 129.
4 Liaugaudienė, Olga; Benušienė, Eglė; Domarkienė, Ingrida; Ambrozaitytė, Laima; Kučinskas, Vaidutis. X-linked ichthyosis: Differential diagnosis of low maternal oestriol level // Journal of obstetrics & gynaecology. London : Informa Healthcare. ISSN 0144-3615. 2014, vol. 34, no. 8, p. 737-739. DOI: 10.3109/01443615.2014.925857. [DB: Embase, MEDLINE, ProQuest (nenaudotinas), Scopus, EBSCOHost (nenaudotinas), CABI Abstracts Databases, ISI Web of Science (nenaudotinas)] [IF: 0.551; AIF: 2.328; 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 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)]
3 Uktverytė, Ingrida; Meškienė, Raimonda; Ambrozaitytė, Laima; Domarkienė, Ingrida; Pranculis, Aidas; Burokienė, Neringa; Coj, Andrejus; Mažeikienė, Asta; Kasiulevičius, Vytautas; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. LITGEN - revealing genetic structure of the population of Lithuania // European journal of human genetics. London : Nature Publishing Group. ISSN 1018-4813. 2013, Vol. 21, suppl. 2, p. 394. [DB: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.225; AIF: 4.387; Q1 (2013 InCities JCR SCIE)]
4 Cimbalistienė, Loreta; Ambrozaitytė, Laima; Smirnova, Marija; Utkus, Algirdas. Algorithm for identifying, diagnostic and management of hyperphenylalaninemia (HPA) in Lithuania // Nacionalinių veiklos, susijusios su retomis ligomis, planų ir strategijų įgyvendinimo aktualijos = The national activities related to rare diseases : programa ir tezės, 2013.11.14, Vilnius. Kaunas : LSMU leidybos namai. 2013, p. 21.
5 Cimbalistienė, Loreta; Ambrozaitytė, Laima; Meškienė, Raimonda; Smirnova, Marija; Blau, N.; Utkus, Algirdas. Tetrahydrobiopterin (BH4) deficiency in Lithuanian newborn screening // Journal of inherited metabolic disease. Dordrecht : Springer. ISSN 0141-8955. 2013, vol. 36, suppl. 2, p. s116. [DB: Science Citation Index Expanded (Web of Science), SpringerLink, CAB Abstracts, TOC Premier, Scopus, VINITI, MEDLINE] [IF: 4.138; AIF: 4.280; Q1 (2013 InCities JCR SCIE)]

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 Meškienė, Raimonda; Uktverytė, Ingrida; Arasimavičius, Justas; Ambrozaitytė, Laima; Viniarskaitė, Lina; Irnius, Algimantas; Kučinskas, Vaidutis. Research of the nutritional genomics markers specific in the population of Lithuania // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2012, t. 14, sp. suppl. p. 42. [DB: Index Copernicus]

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: MEDLINE, BIOSIS Previews, Science Citation Index Expanded (Web of Science)]
2 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: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 4.400; AIF: 4.314; 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 Kasnauskienė, Jūratė; Grigalionienė, Kristina; Ambrozaitytė, Laima; Kučinskienė, Zita Aušrelė; Kučinskas, Vaidutis. Mutations and SNPs spectrum for monogenic and common disorders in Lithuania: creation strategy for diagnostic and prognostic testing // The human variome project implementation and integration meeting, 10th-14th May 2010, Paris, France. Paris. 2010, p. 62.
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: MEDLINE, BIOSIS Previews, Science Citation Index Expanded (Web of Science)]
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]

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: Science Citation Index Expanded (Web of Science), MEDLINE] [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: Science Citation Index Expanded (Web of Science), MEDLINE] [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: Science Citation Index Expanded (Web of Science), Wiley InterScience, MEDLINE, BIOSIS Previews] [IF: 2.404; AIF: 4.515; Q3 (2009 InCities JCR SCIE)]

2008
1 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.
2 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: Science Citation Index Expanded (Web of Science), MEDLINE] [IF: 3.925; AIF: 4.298; Q2 (2008 InCities JCR SCIE)]
3 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: Scopus, MEDLINE]
4 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]
5 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 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)]
2 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]