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

Year Number of Results
1991 1
1992 1
1993 4
1994 6
1995 2
1996 3
1997 4
1998 5
1999 5
2000 5
2001 4
2002 5
2003 1
2004 5
2005 2
2006 5
2007 8
2008 3
2009 2
2010 3
2011 9
2012 8
2013 5
2014 9
2015 10
2016 8
2017 5
2018 3
2019 10
2020 7
2021 10
2022 5
2023 6
2024 0

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151 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: wedell a. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: wedell a. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Precision medicine in rare diseases: What is next?
Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A. Tesi B, et al. Among authors: wedell a. J Intern Med. 2023 Oct;294(4):397-412. doi: 10.1111/joim.13655. Epub 2023 Jun 1. J Intern Med. 2023. PMID: 37211972 Review.
Adenosine Kinase Deficiency: Report and Review.
Alhusani A, Obaid A, Blom HJ, Wedell A, Alfadhel M. Alhusani A, et al. Among authors: wedell a. Neuropediatrics. 2019 Feb;50(1):46-50. doi: 10.1055/s-0038-1676053. Epub 2018 Nov 26. Neuropediatrics. 2019. PMID: 30477030 Review.
Mitochondria in human disease.
Larsson NG, Wedell A. Larsson NG, et al. Among authors: wedell a. J Intern Med. 2020 Jun;287(6):589-591. doi: 10.1111/joim.13088. Epub 2020 May 14. J Intern Med. 2020. PMID: 32406555 Free article. No abstract available.
Implementing precision medicine in a regionally organized healthcare system in Sweden.
Fioretos T, Wirta V, Cavelier L, Berglund E, Friedman M, Akhras M, Botling J, Ehrencrona H, Engstrand L, Helenius G, Fagerqvist T, Gisselsson D, Gruvberger-Saal S, Gyllensten U, Heidenblad M, Höglund K, Jacobsson B, Johansson M, Johansson Å, Soller MJ, Landström M, Larsson P, Levin LÅ, Lindstrand A, Lovmar L, Lyander A, Melin M, Nordgren A, Nordmark G, Mölling P, Palmqvist L, Palmqvist R, Repsilber D, Sikora P, Stenmark B, Söderkvist P, Stranneheim H, Strid T, Wheelock CE, Wadelius M, Wedell A, Edsjö A, Rosenquist R. Fioretos T, et al. Among authors: wedell a. Nat Med. 2022 Oct;28(10):1980-1982. doi: 10.1038/s41591-022-01963-4. Nat Med. 2022. PMID: 36123428 No abstract available.
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.
Zhang J, Koolmeister C, Han J, Filograna R, Hanke L, Àdori M, Sheward DJ, Teifel S, Gopalakrishna S, Shao Q, Liu Y, Zhu K, Harris RA, McInerney G, Murrell B, Aoun M, Bäckdahl L, Holmdahl R, Pekalski M, Wedell A, Engvall M, Wredenberg A, Karlsson Hedestam GB, Castro Dopico X, Rorbach J. Zhang J, et al. Among authors: wedell a. JCI Insight. 2023 Sep 8;8(17):e167656. doi: 10.1172/jci.insight.167656. JCI Insight. 2023. PMID: 37681412 Free PMC article.
151 results