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Pranckėnienė, Laura; Preikšaitienė, Eglė; Gueneau, Lucie; Reymond, Alexandre; Kučinskas, Vaidutis. De novo duplication in the CHD7 gene associated with severe CHARGE syndrome // Genomics insights. London : Sage Publications Ltd. ISSN 1178-6310. 2019, vol. 12, p. 1-5. DOI: 10.1177/1178631019839010. [DB: Embase, CAB Abstracts, Academic Search Premier, Scopus, Emerging Sources Citation Index (Web of Science)] |
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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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Pranckėnienė, Laura; Siavrienė, Evelina; Gueneau, Lucie; Preikšaitienė, Eglė; Mikštienė, Violeta; Reymond, Alexandre; Kučinskas, Vaidutis. De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome // Molecular genetics & genomic medicine. Hoboken : Wiley. ISSN 2324-9269. 2019, vol. 7, iss. 12, art. no. e1006, p. [1-6]. DOI: 10.1002/mgg3.1006. [DB: PubMed, MEDLINE, Scopus, Science Citation Index Expanded (Web of Science)] [IF: 1.995; AIF: 4.091; Q3 (2019 InCities JCR SCIE)] |
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Pranckėnienė, Laura; Jakaitienė, Audronė; Kučinskas, Vaidutis. An evaluation of de novo mutation content in the Lithuanian exome // European journal of human genetics: Abstracts from the 50th European Society of Human genetics conference: electronic posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 26, suppl., art. no. E-P18.26, p. 1011-1012. 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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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)] |