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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Among authors: tesi b. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Tesi B, et al. Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1. Genome Med. 2015. PMID: 26684649 Free PMC article.
Haploinsufficiency of UNC13D increases the risk of lymphoma.
Löfstedt A, Ahlm C, Tesi B, Bergdahl IA, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M. Löfstedt A, et al. Among authors: tesi b. Cancer. 2019 Jun 1;125(11):1848-1854. doi: 10.1002/cncr.32011. Epub 2019 Feb 13. Cancer. 2019. PMID: 30758854 Free PMC article.
Heterozygous variants in DCC: Beyond congenital mirror movements.
Thams S, Islam M, Lindefeldt M, Nordgren A, Granberg T, Tesi B, Barbany G, Nilsson D, Paucar M. Thams S, et al. Among authors: tesi b. Neurol Genet. 2020 Oct 20;6(6):e526. doi: 10.1212/NXG.0000000000000526. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33209984 Free PMC article.
55 results