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Gasiūnienė, Monika; Zubova, Anastasija; Utkus, Algirdas; Navakauskienė, Rūta. Epigenetic and metabolic alterations in human amniotic fluid stem cells induced to cardiomyogenic differentiation by DNMT and p53 inhibitors // Journal of cellular biochemistry. Hoboken : Wiley. ISSN 0730-2312. eISSN 1097-4644. 2019, vol. 120, no 5, p. 8129-8143. DOI: 10.1002/jcb.28092. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 4.237; AIF: 5.487; Q2 (2019 InCities JCR SCIE)] |
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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)] |
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Valiulis, Arūnas; Bousquet, J.; Veryga, Aurelijus; Suprun, U.; Sergeenko, D.; Cebotari, S.; Borelli, D.; Pietikainen, S.; Banys, Jūras; Agache, I.; Billo, N.E.; Bush, A.; Chkhaidze, I.; Dubey, L.; Fokkens, W.J.; Grigg, J.; Haahtela, T.; Julge, K.; Katilov, O.; Khaltaev, N.; Odemyr, M.; Palkonen, S.; Savli, R.; Utkus, Algirdas; Vilc, V.; Alasevičius, Tomas; Bedbbrook, A.; Bewick, M.; Chorostowska-Wynimko, J.; Danila, Edvardas; Hadjipanayis, A.; Karseladze, R.; Kvedarienė, Violeta; Lesinskas, Eugenijus; Münter, L.; Samolinski, B.; Sargsyan, S.; Šitkauskienė, B.; Somekh, D.; Vaidelienė, L.; Valiulis, Algirdas; Hellings, P.W. Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‑management, mHealth and air pollution in chronic respiratory diseases // Clinical and translational allergy. London : BMC. ISSN 2045-7022. eISSN 2045-7022. 2019, vol. 9, art. no. 7, p. [1-10]. DOI: 10.1186/s13601-019-0242-2. [DB: PubMed Central, Embase, Science Citation Index Expanded (Web of Science), Scopus] [IF: 5.129; AIF: 4.953; Q1 (2019 InCities JCR SCIE)] |
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Gasiūnienė, Monika; Zentelytė, Aistė; Treigytė, Gražina; Baronaitė, Sandra; Savickienė, Jūratė; Utkus, Algirdas; Navakauskienė, Rūta. Epigenetic alterations in amniotic fluid mesenchymal stem cells derived from normal and fetus-affected gestations: A focus on myogenic and neural differentiations // Cell biology international. Hoboken : Wiley-Blackwell. ISSN 1065-6995. eISSN 1095-8355. 2019, vol. 43, iss. 3, p. 299-312. DOI: 10.1002/cbin.11099. [DB: MEDLINE, BIOSIS Previews, Biobase, Academic Search Complete, Academic Search Premier, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.571; AIF: 6.278; Q3 (2019 InCities JCR SCIE)] |
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Gasiūnienė, Monika; Zentelytė, Aistė; Wojtas, Bartosz; Baronaitė, Sandra; Krasovskaja, Natalija; Savickienė, Jūratė; Gielniewski, Bartlomiej; Kaminska, Bozena; Utkus, Algirdas; Navakauskienė, Rūta. DNA methyltransferases inhibitors effectively induce gene expression changes suggestive of cardiomyogenic differentiation of human amniotic fluid‐derived mesenchymal stem cells via chromatin remodeling // Journal of tissue engineering and regenerative medicine. Hoboken : Wiley. ISSN 1932-6254. eISSN 1932-7005. 2019, vol. 13, iss. 3, p. 469-481. DOI: 10.1002/term.2800. [DB: Scopus, MEDLINE, INSPEC, Embase, BIOSIS Previews, Biological Abstracts, Science Citation Index Expanded (Web of Science)] [IF: 3.078; AIF: 4.653; Q2 (2019 InCities JCR SCIE)] |
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Ginevičienė, Valentina; Norvydas, Matas; Milašius, Kazys; Utkus, Algirdas. Raumenų adaptaciją prie fizinių krūvių lemiančių CKM ir AMPD1 genetinių variantų analizė Lietuvos sportininkų grupėje = Analysis of CKM and AMPD1 genetic variations related to the muscle training adaptation in Lithuanian athletes group // Sporto mokslas. Kaunas : Vytauto Didžiojo universitetas. ISSN 1392-1401. eISSN 2424-3949. 2019, t. 95, Nr. 1, p. 53-61. DOI: 10.15823/sm.2019.95.7. [DB: Index Copernicus] |
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Venckutė, Kamilė; Ginevičienė, Valentina; Utkus, Algirdas. Investigation of COL1A1 and COL3A1 gene variants in Lithuanian endurance and sprint/power oriented athletes // Sport science for sports practice, teacher training and health promotion : 12th conference of Baltic Society of Sport Sciences : April 25–26, 2019, Vilnius, Lithuania : abstracts. Kaunas : Vytautas Magnus University, 2019. ISBN 9786094673849. p. 142-143. DOI: 10.7220/9786094673849. |
8 |
Ginevičienė, Valentina; Pranckevičienė, Erinija; Utkus, Algirdas. Current genetic findings for strength and power athletic performance in Lithuanian cohort // Физическая культура, спорт, туризм: инновационные проекты и передовые практики : материалы международной научно-практической конференции, посвященной 90-летию основания кафедры физического воспитания. Москва : ФГБОУ ВО "РЭУ им. Г. В. Плеханова", 2019. ISBN 9785730715189. p. 632-637. |
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Siavrienė, Evelina; Petraitytė, Gunda; Mikštienė, Violeta; Rančelis, Tautvydas; Maldžienė, Živilė; Morkūnienė, Aušra; Byčkova, Jekaterina; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report // BMC Medical Genetics. London : BioMed Central Ltd. ISSN 1471-2350. 2019, vol. 20, art. no. 127, p. [1-7]. DOI: 10.1186/s12881-019-0859-y. [DB: Academic Search Premier, Academic Search Complete, Academic OneFile, BIOSIS Previews, Current Contents, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.585; AIF: 4.091; Q4 (2019 InCities JCR SCIE)] |
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Siavrienė, Evelina; Mikštienė, Violeta; Radzevičius, Darius; Maldžienė, Živilė; Rančelis, Tautvydas; Petraitytė, Gunda; Tamulytė, Giedrė; Kavaliauskienė, Ingrida; Šarkinas, Laurynas; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family // Molecular genetics & genomic medicine. Hoboken : Wiley. ISSN 2324-9269. eISSN 2324-9269. 2019, vol. 7, iss. 9, art. no. e878, p. [1-7]. DOI: 10.1002/mgg3.878. [DB: PubMed, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.995; AIF: 4.091; Q3 (2019 InCities JCR SCIE)] |
11 |
Pranckėnienė, Laura; Bumbulienė, Žana; Dasevičius, Darius; Utkus, Algirdas; Kučinskas, Vaidutis; Preikšaitienė, Eglė. Novel androgen receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome // Journal of pediatric and adolescent gynecology. New York : Elsevier Science. ISSN 1083-3188. eISSN 1873-4332. 2019, vol. 32, no. 6, p. 641-644. DOI: 10.1016/j.jpag.2019.08.001. [DB: PubMed, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.753; AIF: 2.444; Q3 (2019 InCities JCR SCIE)] |
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Chmieliauskas, Sigitas; Laima, Sigitas; Fomin, Dmitrij; Jurolaic, Eleonora; Jasulaitis, Algimantas; Stasiūnienė, Jurgita; Characiejus, Dainius; Utkus, Algirdas. Homicide victims and mechanisms in Lithuania from 2004 to 2016. // Journal of forensic and legal medicine. Oxford : Elsevier science. ISSN 1752-928X. eISSN 1532-2009. 2019, vol. 65, p. 27-31. DOI: 10.1016/j.jflm.2019.04.010. [DB: MEDLINE, Embase, Scopus, Social Sciences Citation Index (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 1.302; AIF: 1.699; Q3 (2019 InCities JCR SCIE)] |
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Maldžienė, Živilė; Bulanovaitė, Elena; Aleksiūnienė, Beata; Utkus, Algirdas; Preikšaitienė, Eglė. 16p13.11-p12.3 microdeletion identified in a patient with sagittal craniosynostosis and developmental delay // Clinical dysmorphology. Philadelphia : Wolters Kluwer Health, Inc. ISSN 0962-8827. eISSN 1473-5717. 2019, vol. 28, no. 4, p. 195-197. DOI: 10.1097/MCD.0000000000000285. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 0.521; AIF: 4.091; Q4 (2019 InCities JCR SCIE)] |
14 |
DeLuca, David S.; Poluziorovienė, Edita; Taminskienė, Vaida; Wrenger, Sabine; Utkus, Algirdas; Valiulis, Algirdas; Alasevičius, Tomas; Henderson, John; Bush, Andrew; Welte, Tobias; Janciauskiene, Sabina; Valiulis, Arūnas. SERPINA1 gene polymorphisms in a population-based ALSPAC cohort // Pediatric pulmonology. Hoboken : John Wiley & Sons, Inc. ISSN 8755-6863. eISSN 1099-0496. 2019, vol. 54, no. 9, p. 1474-1478. DOI: 10.1002/ppul.24422. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 2.534; AIF: 3.166; Q2 (2019 InCities JCR SCIE)] |
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Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Petraitytė, Gunda; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional delineation of de novo heterozygous intragenic deletion in MED13L // European human genetics conference, Gothenburg, Sweden, June 15-18, 2019. Gothenburg : European Society of Human Genetics. 2019, abstract no. P08.40A, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/7874/presentation/1881> [žiūrėta 2019-11-12]. |
16 |
Petraitytė, Gunda; Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional analysis of a novel c.899+1G>A variant in SLC9A6 gene // European human genetics conference, Gothenburg, Sweden, June 15-18, 2019. Gothenburg : European Society of Human Genetics. 2019, abstract no. P08.56A, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/7874/presentation/1897> [žiūrėta 2019-11-12]. |
17 |
Petrulionienė, Žaneta; Gargalskaitė, Urtė; Mikštienė, Violeta; Norvilas, Rimvydas; Skiauterytė, Eglė; Utkus, Algirdas. Autosomal recessive hypercholesterolemia: Case report. // Journal of clinical lipidology. New York : Elsevier Science Inc. ISSN 1933-2874. eISSN 1876-4789. 2019, vol. 13, iss. 6, p. 887-893. DOI: 10.1016/j.jacl.2019.09.009. [DB: MEDLINE, ScienceDirect, Embase, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.860; AIF: 3.442; Q1 (2019 InCities JCR SCIE)] |
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Valiulis, Arūnas; Bousquet, Jean; Veryga, Aurelijus; Suprun, Ulana; Sergeenko, Davit; Cebatori, Svetlana; Borelli, Danielle; Pietikainen, Sirpa; Banys, Jūras; Agache, Ioana; Billo, Nils E.; Bush, Andrew; Chkhaidze, Ivane; Dubey, Lokesh; Fokkens, Wytske Johanna; Grigg, Jonathan; Haahtela, Tari; Julge, Kaja; Katilov, Oleksander; Khaltaev, Nikolai; Odemyr, Mikaela; Palkonen, Susana; Savli, Roberta; Utkus, Algirdas; Vilc, Valentina; Alasevičius, Tomas; Bedbrook, Anna; Bewick, Michael; Chorostowska-Wynimko, Joanna; Danila, Edvardas; Hadjipanayis, Adamos; Karseladze, Rusudan; Kvedarienė, Violeta; Lesinskas, Eugenijus; Münter, Lars; Samolinski, Boleslaw K.; Sargsyan, Sergey; Šitkauskienė, Brigita; Somekh, David; Vaidelienė, Laimutė; Valiulis, Algirdas; Hellings, Peter W. Erklärung von Vilnius zu chronischen Atemwegserkrankungen: multisektorale Versorgungswege, die angeleitetes Selbstmanagement, mHealth und Luftverschmutzung bei der Versorgung chronischer Atemwegserkrankungen einschließen // Karger Kompass Pneumologie. Freiburg. ISSN 2296-0368. eISSN 2296-0317. 2019, vol. 7, no. 4, p. 185-192. DOI: 10.1159/000500740. |
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Ginevičienė, Valentina; Venckutė, Kamilė; Utkus, Algirdas; Milašius, Kazys. Kolageno genų variantų reikšmė Lietuvos didelio meistriškumo sportininkų fiziniam pajėgumui // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2019, t. 21, Nr. 2, p. 84-92. Prieiga per internetą: <https://zurnalas.llmd.lt/lt/straipsnis/visas/884/2019>. [DB: Index Copernicus] |
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Ginevičienė, Valentina; Milašius, Kazys; Utkus, Algirdas. Association of AMPD1 and CKMM polymorphisms with physical performance phenotype of Lithuanian elite athletes // European journal of human genetics: vol. 27, suppl. 2:Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1748-1749. DOI: 10.1038/s41431-019-0494-2. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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Braždžiūnaitė, Deimantė; Burnytė, Birutė; Cimbalistienė, Loreta; Tumienė, Birutė; Preikšaitienė, Eglė; Bikauskaitė-Valčiukė, Liucija; Maldžienė, Živilė; Dagytė, Evelina; Aleksiūnienė, Beata; Matulevičienė, Aušra; Utkus, Algirdas. Wolf-Hirschhorn syndrome: clinical and genetic data analysis of Lithuanian patients // European journal of human genetics: vol. 27, suppl. 2: Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1896. DOI: 10.1038/s41431-019-0493-3. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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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)] |
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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)] |
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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)] |
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Grigalionienė, Kristina; Burnytė, Birutė; Kučinskas, Vaidutis; Utkus, Algirdas. MtDNA sequence analysis in the group of Lithuanian patients with clinically suspected mitochondrial disease // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters, May 27-30, 2017, Copenhagen, Denmark. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P06.32, p. 897-898. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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Preikšaitienė, Eglė; Laimutė, R.; Morkūnienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis. Developmental delay, congenital heart defect and cleft palate in a patient with 1q22q23.1 microdeletion // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters, May 27-30, 2017, Copenhagen, Denmark. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P08.05, p. 921-922. DOI: 10.1038/s41431-018-0248-6. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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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)] |
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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]. |
29 |
Strumila, Robertas; Lengvenytė, Aistė; Dlugauskas, Edgaras; Utkus, Algirdas. Do CYP2C19 polymorphisms predict treatment response to escitalopram in moderate and severe depressive disorder? // European neuropsychopharmacology: Abstracts of the 32nd ECNP Congress, 7-10 September 2019, Copenhagen, Denmark. Amsterdam : Elsevier B.V. ISSN 0924-977X. 2019, vol. 29, suppl. 6, abstract no. P.500, p. S350-S351. DOI: 10.1016/j.euroneuro.2019.09.505. [DB: Scopus, Conference Proceedings Citation Index - Science (Web of Science), Science Citation Index Expanded (Web of Science)] [IF: 3.853; AIF: 3.659; Q1 (2019 InCities JCR SCIE)] |
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Leu, Costin; Stevelink, Remi; Smith, Alexander W.; Goleva, Slavina B.; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L.; Koeleman, Bobby P.C.; Lerche, Holger; Jehi, Lara; Davis, Lea K.; Najm, Imad M.; Palotie, Aarno; Daly, Mark J.; Busch, Robyn M.; Lal, Denis; Tumienė, Birutė (tyrėjas); Mameniškienė, Rūta (tyrėjas); Utkus, Algirdas (tyrėjas); Praninskienė, Rūta (tyrėjas); Grikinienė, Jurgita (tyrėjas); Samaitienė, Rūta (tyrėjas). Polygenic burden in focal and generalized epilepsies // Brain. Oxford : Oxford university press. ISSN 0006-8950. 2019, vol. 142, no. 11, p. 3473-3481. DOI: 10.1093/brain/awz292. [DB: MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 11.337; AIF: 3.777; Q1 (2019 InCities JCR SCIE)] |
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Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Petraitytė, Gunda; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional delineation of de novo heterozygous intragenic deletion in MED13L // European journal of human genetics: Conference Abstracts from the 52nd European Society of Human Genetics (ESHG), Gothenburg, Sweden, Jun 15-18, 2019. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, art. no. P08.40A, p. 1396-1397. DOI: 10.1038/s41431-019-0494-2. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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Petraitytė, Gunda; Siavrienė, Evelina; Mikštienė, Violeta; Maldžienė, Živilė; Rančelis, Tautvydas; Utkus, Algirdas; Preikšaitienė, Eglė; Kučinskas, Vaidutis. Functional analysis of a novel c.899+1G > A variant in SLC9A6 gene // European journal of human genetics: Conference Abstracts from the 52nd European Society of Human Genetics (ESHG), Gothenburg, Sweden, Jun 15-18, 2019. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, art. no. P08.56A, p. 1405. DOI: 10.1038/s41431-019-0494-2. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
33 |
Petkevičienė, Milda; Šablauskas, Karolis; Marcinkutė, Rūta; Smirnova, M.; Songailienė, Jurgita; Utkus, Algirdas. The beginning of the neonatal screening for congenital adrenal hyperplasia in Lithuania: cut-off limits based on 27175 infants // European journal of human genetics: 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. P06.07C, p. 170. 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)] |
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Dagytė, Evelina; Matulevičienė, Aušra; Ambrozaitytė, Laima; Laimutė, Rita; Aleksiūnienė, Beata; Burnytė, Birutė; Utkus, Algirdas. 15q13.3 microdeletion and microduplication in patients with neurodevelopment disorders // European 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)] |
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Burnytė, Birutė; Morkūnienė, Aušra; Ambrozaitytė, Laima; Regelskytė, Vaiva; Vaitkevičius, Arūnas; Kučinskas, Vaidutis; Utkus, Algirdas. A report of a family of intermediate Charcot-Marie-Tooth disease with concomitant mutations in the GNB4 and DNM2 genes // European 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)] |
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Matulevičienė, Aušra; Šiaurytė, Kamilė; Cimbalistienė, Loreta; Burnytė, Birutė; Ambrozaitytė, Laima; Meškienė, Raimonda; Kučinskas, Vaidutis; Utkus, Algirdas. Three unrelated Lithuanian cases of oculodentodigital dysplasia: phenotypic analysis and comparison to the literature // European 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)] |
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Šablauskas, Karolis; Tumienė, Birutė; Utkus, Algirdas. Machine learning approach for detecting epilepsy causing proteins using protein interaction data // 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. P16.25A, p. 578. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0404-7.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European 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)] |
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Blažytė, Evelina Marija; Samsonė, Viltė Gabrielė; Matulevičienė, Aušra; Aleksiūnienė, Beata; Burnytė, Birutė; Dagytė, Evelina; Tumienė, Birutė; Utkus, Algirdas. The spectrum of associated congenital malformations in Down syndrome: a retrospective Lithuanian cohort study // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P05.10, p. 920. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)] |
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Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Preikšaitienė, Eglė; Utkus, Algirdas. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P11.08, p. 977-978. 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)] |
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Aleksiūnienė, Beata; Tumienė, Birutė; Utkus, Algirdas. AHDC1 gene truncating 1p36.11p35.3 microdeletion in a patient with developmental delay, dysmorphic features and congenital heart defects // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P11.09, p. 978. 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)] |
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Ginevičienė, Valentina; Jakaitienė, Audronė; Ašmenavičiūtė, Ieva; Utkus, Algirdas; Tubelis, Linas. Investigation of MCT1 rs1049434, COL1A1 rs1800012 and COL3A1 rs1800255 variants related to susceptibility to injuries in professional football players // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P18.03, p. 1035. 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)] |