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Savige, Judy; Lipska-Zietkiewicz, Beata S; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Čerkauskaitė, Agnė; Gregory, Martin; Čerkauskienė, Rimantė; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabet; Bierzynska, Agnieszka; Gangemi, Concetta; Renieri, Alessandra; Storey, Helen; Flinter, Frances. Guidelines for genetic testing and management of Alport syndrome // Clinical journal of the American Society of Nephrology. Washington : American Society of Nephrology. ISSN 1555-9041. eISSN 1555-905X. 2022, vol. 17, iss. 1, p. 143-154. DOI: 10.2215/CJN.04230321. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 9.800; AIF: 4.000; Q1 (2022 InCities JCR SCIE)] |
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Gibson, Joel T.; Huang, Mary; Shenelli Croos Dabrera, Marina; Shukla, Krushnam; Rothe, Hansjörg; Hilbert, Pascale; Deltas, Constantinos; Storey, Helen; Lipska-Ziętkiewicz, Beata S.; Chan, Melanie M Y; Sadeghi-Alavijeh, Omid; Gale, Daniel P.; Čerkauskaitė, Agnė; Savige, Judy. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome // Scientific reports. Berlin : Nature Research. eISSN 2045-2322. 2022, vol. 12, no. 1, art. no. 2722, p. [1-13]. DOI: 10.1038/s41598-022-06525-9. [DB: Science Citation Index Expanded (Web of Science), Scopus] |
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Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B.; Knebelmann, Bertrand; Čerkauskaitė, Agnė; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra. The 2019 and 2021 International Workshops on Alport Syndrome // European journal of human genetics. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, iss. 5, p. 507-516. DOI: 10.1038/s41431-022-01075-0. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)] |
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Čerkauskaitė, Agnė; Savige, Judy; Janonytė, Karolina; Jeremičiūtė, Ieva; Miglinas, Marius; Kazėnaitė, Edita; Laurinavičius, Arvydas; Strupaitė-Šileikienė, Rasa; Vainutienė, Vija; Burnytė, Birutė; Jankauskienė, Augustina; Rolfs, Arndt; Bauer, Peter; Schröder, Sabine; Čerkauskienė, Rimantė. Identification of 27 novel variants in genes COL4A3, COL4A4, and COL4A5 in Lithuanian families with Alport syndrome // Frontiers in medicine. Lausanne : Frontiers Media SA. eISSN 2296-858X. 2022, vol. 9, art. no. 859521, p. [1-12]. DOI: 10.3389/fmed.2022.859521. [DB: Science Citation Index Expanded (Web of Science), Scopus, Embase] |
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Almeida, Ligia S.; Pereira, Catarina; Aanicai, Ruxandra; Schröder, Sabine; Bochinski, Tomasz; Kaune, Anett; Urzi, Alice; Spohr, Tania C. L. S.; Viceconte, Nikenza; Oppermann, Sebastian; Alasel, Mohammed; Ebadat, Saeedeh; Iftikhar, Sana; Jasinge, Eresha; Elsayed, Solaf M.; Tomoum, Hoda; Marzouk, Iman; Jalan, Anil B.; Čerkauskaitė, Agnė; Čerkauskienė, Rimantė; Tkemaladze, Tinatin; Nadeem, Anjum Muhammad; El Din Mahmoud, Iman Gamal; Mossad, Fawzia Amer; Kamel, Mona; Selim, Laila Abdel; Cheema, Huma Arshad; Paknia, Omid; Cozma, Claudia; Juaristi-Manrique, Carlos; Guatibonza-Moreno, Pilar; Böttcher, Tobias; Vogel, Florian; Pinto-Basto, Jorge; Bertoli-Avella, Aida; Bauer, Peter; Schroeder, Sabine; Boettcher, Tobias. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients // European journal of human genetics. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, p. 1029-1035. DOI: 10.1038/s41431-022-01119-5. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)] |
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Vitkauskaitė, Monika; Vinikovas, Artūras; Miglinas, Marius; Rimševičius, Laurynas; Čerkauskaitė, Agnė; Mačionienė, Ernesta; Ašakienė, Eglė. Complement inhibitor eculizumab in thrombotic microangiopathy: single-center case series // Clinical case reports. Hoboken : Wiley-Blackwell Publishing Ltd. ISSN 2050-0904. 2022, vol. 10, no. 3, p. 5573-5581. DOI: 10.1002/ccr3.5573. [DB: Emerging Sources Citation Index (Web of Science), Scopus] |
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Savige, Judy; Renieri, Alessandra; Ars, Elisabet; Daga, Sergio; Pinto, Anna Maria; Rothe, Hansjorg; Gale, Daniel P.; Aksenova, Marina; Kerpauskienė, Agnė; Bielska, Olga; Lipska-Zietkiewicz, Beata; Gibson, Joel T. Digenic Alport syndrome // Clinical journal of the American Society of Nephrology. Washington : American Society of Nephrology. ISSN 1555-9041. eISSN 1555-905X. 2022, vol. 17, no. 11, p. 1697-1706. DOI: 10.2215/CJN.03120322. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE] [IF: 9.800; AIF: 4.000; Q1 (2022 InCities JCR SCIE)] |
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Vitkauskaitė, Monika; Čerkauskaitė, Agnė; Miglinas, Marius. Dent disease type 1: still an under-recognized renal proximal tubulopathy: a case report // Reports. Basel : MDPI. eISSN 2571-841X. 2022, vol. 5, iss. 4, art. no. 50, [p. 1-8]. DOI: 10.3390/reports5040050. [DB: Emerging Sources Citation Index (Web of Science)] |
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Navickaitė, Milda; Janonytė, Karolina; Čerkauskienė, Rimantė; Miglinas, Marius; Čerkauskaitė, Agnė. Alport syndrome manifestation in twins // Nephrology dialysis transplantation: 59th ERA congress, 19-22 May 2022: congress abstracts. Oxford : Oxford University Press. ISSN 0931-0509. eISSN 1460-2385. 2022, vol. 37, suppl. 3, art. no. MO021, p. i11. DOI: 10.1093/ndt/gfac062.002. [DB: Science Citation Index Expanded (Web of Science)] [IF: 6.100; AIF: 3.850; Q1 (2022 InCities JCR SCIE)] |