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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 4
2019 10
2020 7
2021 12
2022 6
2023 6
2024 8
2025 7

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168 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.
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
Paucar M, Nilsson D, Engvall M, Laffita-Mesa J, Söderhäll C, Skorpil M, Halldin C, Fazio P, Lagerstedt-Robinson K, Solders G, Angeria M, Varrone A, Risling M, Jiao H, Nennesmo I, Wedell A, Svenningsson P. Paucar M, et al. Among authors: wedell a. J Intern Med. 2024 Sep;296(3):234-248. doi: 10.1111/joim.13815. Epub 2024 Jul 7. J Intern Med. 2024. PMID: 38973251
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.
Rosenberger FA, Moore D, Atanassov I, Moedas MF, Clemente P, Végvári Á, Fissi NE, Filograna R, Bucher AL, Hinze Y, The M, Hedman E, Chernogubova E, Begzati A, Wibom R, Jain M, Nilsson R, Käll L, Wedell A, Freyer C, Wredenberg A. Rosenberger FA, et al. Among authors: wedell a. Sci Adv. 2021 Feb 19;7(8):eabf0717. doi: 10.1126/sciadv.abf0717. Print 2021 Feb. Sci Adv. 2021. PMID: 33608280 Free PMC article.
Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.
Stenzinger A, Edsjö A, Ploeger C, Friedman M, Fröhling S, Wirta V, Seufferlein T, Botling J, Duyster J, Akhras M, Thimme R, Fioretos T, Bitzer M, Cavelier L, Schirmacher P, Malek N, Rosenquist R; GMS working group and ZPM working group. Stenzinger A, et al. Semin Cancer Biol. 2022 Sep;84:242-254. doi: 10.1016/j.semcancer.2021.05.026. Epub 2021 May 24. Semin Cancer Biol. 2022. PMID: 34033893 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.
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Végvári Á, Käll L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Correia SP, et al. Among authors: wedell a. JCI Insight. 2024 Oct 22;9(20):e178645. doi: 10.1172/jci.insight.178645. JCI Insight. 2024. PMID: 39288270 Free PMC article.
168 results