VU Medicinos fakulteto autoriaus 'Kamilė Šiaurytė-Jurgelėnė' publikacijų sąrašas

2024
1 Valančienė, Julija; Melaika, Kazimieras; Šliachtenko, Aleksandra; Šiaurytė-Jurgelėnė, Kamilė; Ekkert, Aleksandra; Jatužis, Dalius. Stroke genetics and how it Informs novel drug discovery // Expert opinion on drug discovery. Abingdon : Taylor & Francis Ltd. ISSN 1746-0441. eISSN 1746-045X. 2024, vol. 19, iss. 5, p. 553-564. DOI: 10.1080/17460441.2024.2324916. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 4.900; AIF: 4.300; Q1 (2024 InCities JCR SCIE)]

2023
1 Matulevičienė, Aušra; Šiaurytė, Kamilė; Kuiper, Els; Grabrucker, Andreas M. Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome // European journal of medical genetics. Amsterdam : Elsevier. ISSN 1769-7212. eISSN 1878-0849. 2023, vol. 66, iss. 6, art. no. 104763, p. [1-5]. DOI: 10.1016/j.ejmg.2023.104763. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 1.600; AIF: 3.600; Q4 (2023 InCities JCR SCIE)]
2 van Eeghen, A.M.; Stemkens, D.; Fernandez-Fructuoso, Jose Ramon; Maruani, A.; Hadzsiev, K.; Matulevičienė, Aušra; Šiaurytė, Kamilė; van Balkom, I.D.C. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome // European journal of medical genetics. Amsterdam : Elsevier Masson SAS. ISSN 1769-7212. 2023, vol. 66, iss. 7, art. no. 104747, p. [1-9]. DOI: 10.1016/j.ejmg.2023.104747. [DB: Science Citation Index Expanded (Web of Science)] [IF: 1.600; AIF: 3.600; Q4 (2023 InCities JCR SCIE)]

2022
1 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Žukauskaitė, Gabrielė; Utkus, Algirdas. Challenge in prenatal diagnostics of severe skeletal dysplasias: a case of Achondrogenesis type 2 // 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. P01.003.C, p. 89. 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)]
2 Šiaurytė, Kamilė; Grigalionienė, Kristina; Utkus, Algirdas; Matulevičienė, Aušra. Novel variant in DDX3X causes syndromic DDX3X related neurodevelopmental disorder // 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. P08.018.D, p. 234-235. 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 Krasovskaja, Natalija; Matulevičienė, Aušra; Šiaurytė, Kamilė; Žukauskaitė, Gabrielė; Utkus, Algirdas. Challenge in prenatal diagnostics of severe skeletal dysplasias: a case of Achondrogenesis type 2 // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, poster no. P01.003.C / C, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/280>.
2 Šiaurytė, Kamilė; Grigalionienė, Kristina; Utkus, Algirdas; Matulevičienė, Aušra. Novel variant in DDX3X causes syndromic DDX3X related neurodevelopmental disorder // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [ 1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/753>.
3 Šiaurytė, Kamilė; Aleksiūnienė, Beata; Matulevičienė, Aušra. Unknown case with complex heart, neurological and skeletal pathology // EuroDysmorpho 2021: 31th European meeting on dysmorphology, September 23-25, 2021, online: abstract book. 2021, p. 80.
4 Grigaitė, Julija; Šiaurytė, Kamilė; Audronytė, Eglė; Preikšaitienė, Eglė; Burnytė, Birutė; Pranckevičienė, Erinija; Ekkert, Aleksandra; Utkus, Algirdas; Jatužis, Dalius. Novel in-frame deletion in HTRA1 gene, responsible for stroke at a young age and dementia - a case study // Genes: Gene expression and chromatin modification in the brain. Basel : MDPI. eISSN 2073-4425. 2021, vol. 12, iss. 12, art. no. 1955, p. [1-7]. DOI: 10.3390/genes12121955. [DB: Science Citation Index Expanded (Web of Science), Scopus, PubMed, Embase]
5 Petraitytė, Gunda; Šiaurytė, Kamilė; Mikštienė, Violeta; Cimbalistienė, Loreta; Kriaučiūnienė, Dovilė; Matulevičienė, Aušra; Utkus, Algirdas; Preikšaitienė, Eglė. A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report // BMC endocrine disorders. London : BMC. eISSN 1472-6823. 2021, vol. 21, art. no. 71, p. [1-6]. DOI: 10.1186/s12902-021-00741-6. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE, Embase, PubMed Central, ProQuest Central, Dimensions]

2020
1 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)]
2 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // European journal of human genetics: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2020, vol. 28, suppl. 1, art. no. P10.38.C, p. 437-438. DOI: 10.1038/s41431-020-00739-z. [DB: Science Citation Index Expanded (Web of Science)] [IF: 4.246; AIF: 5.241; Q2 (2020 InCities JCR SCIE)]
3 Šiaurytė, Kamilė; Matulevičienė, Aušra; Cimbalistienė, Loreta; Morkūnienė, Aušra; Vaitkevičius, Arūnas; Utkus, Algirdas. Myotonia congenita: a series of familial cases with causative pathogenic variants in both CLCN1 and SCN4A // ESHG 2020.2 - Live in Your Living Room : Virtual conference : June 6–9, 2020, Berlin, Germany / European Society for Human Genetics (ESHG). Berlin : European Society for Human Genetics (ESHG). 2020, abstract no. P10.38.C, p. 1. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/9102/presentation/1187> [žiūrėta 2020-10-20].

2019
1 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)]
2 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].
3 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)]

2018
1 Šiaurytė, Kamilė; Matulevičienė, Aušra; Utkus, Algirdas. Dysmorphology today // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 118.
2 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].

2017
1 Šiaurytė, Kamilė; Preikšaitienė, Eglė; Abelytė, Rasa; Utkus, Algirdas. 1A tipo Charcot-Ma rie-Tooth neuropatija: klinikinis aprašymas ir literatūros apžvalga = Charcot-Marie-Tooth type 1a neuropathy: clinical report and review of the literature // Neurologijos seminarai. Vilnius : Rotas. ISSN 1392-3064. 2017, T. 21, Nr. 2, p. 116-121. [DB: Index Copernicus]
2 Šiaurytė, Kamilė; Aleksandravičiūtė, Laima; Šimkūnaitė-Rizgelienė, Renata; Preikšaitienė, Eglė; Utkus, Algirdas. Periorbitinės srities dismorfologinis vertinimas klinikinėje genetikoje = Dysmorphic assessment of the periorbital region in the clinical genetics // Pediatrija. Vilnius : UAB "Baltijos idėjų grupė" ir partneriai. ISSN 1648-4630. 2017, Nr. 3(79), p. 30-36.