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

Year Number of Results
2006 1
2007 1
2009 1
2011 1
2012 1
2015 1
2016 5
2017 2
2019 1
2020 2
2021 8
2022 6
2023 2
2024 1

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30 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: ygberg s. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries.
Pfeiffer HCV, Wickstrom R, Skov L, Sørensen CB, Sandvig I, Gjone IH, Ygberg S, de Visscher C, Idring Nordstrom S, Herner LB, Hesselmark E, Hedderly T, Lim M, Debes NM. Pfeiffer HCV, et al. Among authors: ygberg s. Acta Paediatr. 2021 Dec;110(12):3153-3160. doi: 10.1111/apa.15875. Epub 2021 May 6. Acta Paediatr. 2021. PMID: 33848371 Review.
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ, Ng BG, Jennions E, Blomqvist M, Sandqvist Wiklund A, Hedberg-Oldfors C, Gonzalez CR, Freeze HH, Ygberg S, Eklund EA. Xia ZJ, et al. Among authors: ygberg s. JIMD Rep. 2022 Sep 21;64(1):79-89. doi: 10.1002/jmd2.12338. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636598 Free PMC article.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Rosenhahn E, et al. Among authors: ygberg s. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. Am J Hum Genet. 2022. PMID: 35830857 Free PMC article.
30 results