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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 2
2006 1
2007 1
2013 1
2014 3
2015 3
2016 7
2017 6
2018 6
2019 3
2020 5
2021 11
2022 7
2023 8
2024 1

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57 results

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Page 1
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: pettersson m. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Beta-Blockers after Myocardial Infarction and Preserved Ejection Fraction.
Yndigegn T, Lindahl B, Mars K, Alfredsson J, Benatar J, Brandin L, Erlinge D, Hallen O, Held C, Hjalmarsson P, Johansson P, Karlström P, Kellerth T, Marandi T, Ravn-Fischer A, Sundström J, Östlund O, Hofmann R, Jernberg T; REDUCE-AMI Investigators. Yndigegn T, et al. N Engl J Med. 2024 Apr 18;390(15):1372-1381. doi: 10.1056/NEJMoa2401479. Epub 2024 Apr 7. N Engl J Med. 2024. PMID: 38587241 Clinical Trial.
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
Aranda-Guillén M, Røyrvik EC, Fletcher-Sandersjöö S, Artaza H, Botusan IR, Grytaas MA, Hallgren Å, Breivik L, Pettersson M, Jørgensen AP, Lindstrand A, Vogt E; Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group; Husebye ES, Kämpe O, Wolff ASB, Bensing S, Johansson S, Eriksson D. Aranda-Guillén M, et al. Among authors: pettersson m. J Intern Med. 2023 Jul;294(1):96-109. doi: 10.1111/joim.13649. Epub 2023 May 21. J Intern Med. 2023. PMID: 37151110
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores A, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjö A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Garza Flores A, et al. Among authors: pettersson m. Front Genet. 2023 Jun 23;14:1174046. doi: 10.3389/fgene.2023.1174046. eCollection 2023. Front Genet. 2023. PMID: 37424725 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: pettersson m. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
57 results