Scientific publications, issue 2


Listing of the scientific publications connected to Synergy#2, that SciLifeLab has contributed to.


Nils Wierup

  • Not available

Anna Wedell

  • H Stranneheim, M Engvall, K Naess, N Lesko, P Larsson, M Dahlberg, R Andeer, A Wredenberg, C Freyer, M Barbaro, H Bruhn, T Emahazion, M Magnusson, R Wibom, RH Zetterström, V Wirta, U von Döbeln, A Wedell: Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC Genomics (2014) 15:1090
  • H Stranneheim & A Wedell: Exome and genome sequencing: a revolution for discovery and diagnosis of monogenic disorders. J Internal Med. (2016) 279:3-15
  • MK Bjursell, HJ Blom, J Asin Cayuela, ML Engvall, N Lesko, S Balasubramaniam, G Brandberg, M Halldin, M Falkenberg, C Jakobs, D Smith, E Struys, U von Döbeln, CM Gustafsson, J Lundeberg, and A Wedell: Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy and abnormal liver function. Am J Hum Genet. (2011) 89:507-515
  • C Freyer, H Stranneheim, K Naess, A Mourier, A Felser, C Maffezzini, N Lesko, H Bruhn, M Engvall, R Wibom, M Barbaro, Y Hinze, M Magnusson, R Andeer, RH Zetterström, U von Döbeln, A Wredenberg, A Wedell: Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid. J Med Genet. (2015) 52:779-83 
  • T Stödberg, A McTague, AJ Ruiz, H Hirata, J Zhen, P Long, I Farabella, E Meyer, A Kawahara, G Vassallo, SM Stivaros, MK Bjursell, H Stranneheim, S Tigerschiöld, B Persson, I Bangash, K Das, D Hughes, N Lesko, J Lundeberg, RC Scott, APoduri, IE Scheffer, H Smith, P Gissen, S Schorge, MEA Reith, M Topf, DM Kullmann, RJ Harvey, A Wedell*, MA Kurian*: Loss-of-function mutations in SLC12A5 encoding the potassium-chloride co-transporter KCC2 in migrating partial seizures of infancy. Nat Commun. (2015) 6:8038
  • Y Kishita, A Pajak, N Ajit Bolar, CMT Marobbio, C Maffezzini, DV Miniero, M Monné, M Kohda, H Stranneheim, K Murayama, K Naess, N Lesko, H Bruhn, A Mourier, R Wibom, I Nennesmo, A Jespers, P Govaert, A Ohtake, L Van Laer, BL Loeys, C Freyer, F Palmieri, A Wredenberg, Y Okazaki, A Wedell: Intra-mitochondrial methylation deficiency due to mutations in SLC25A26. Am J Hum Genet (2015) 97:761-768       
  • TB Haack, E Ignatius, J Calvo-Garrido, A Iuso, P Isohanni, C Maffezzini, T Lönnqvist, A Suomalainen, M Gorza, LS Kremer, E Graf, M Hartig, R Berutti, P Sveningsson, H Stranneheim, G Brandberg, A Wedell, MA Kurian, SA Hayflick, V Tiranti, TM Strom, M Dichgans, R Horvath, E Holinski-Feder, C Freyer, T Meitinger, H Prokisch, J Senderek, A Wredenberg, CJ Carroll, T Klopstock: Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Multisystem Neurodegeneration with Ataxia. Am J Hum Genet. (2016) 99(3):735-43

Elena Vikström

  • Holm A, Magnusson K.E, Vikström E. Pseudomonas aeruginosa N-3-oxo-dodecanoyl-homoserine lactone elicits changes in cell volume, morphology and AQP9 characteristics in macrophages, Front. Cell. Infect. Microbiol. 2016 Mar 24;6:32. doi: 10.3389/fcimb.2016.00032.
  • Holm A, Karlsson T, Vikström E. Pseudomonas aeruginosa lasI/rhlI quorum sensing genes promote phagocytosis and aquaporin 9 redistribution to the leading and trailing regions in macrophages. Front Microbiol. 2015 Aug 6:915. doi: 10.3389/fmicb.2015.00915.
  • Karlsson T., Turkina M.V., Yakymenko O., Magnusson K-E., Vikström E. The Pseudomonas aeruginosa N-acylhomoserine lactone quorum sensing molecules target IQGAP1 and modulate epithelial cell migration. PLoS Pathog. 2012 Oct;8(10):e1002953. doi: 10.1371/journal.ppat.1002953. Epub 2012 Oct 11.

Love Dalén

  • Gopalakrishnan S, Samaniego Castruita J, Sinding MH, Kuderna L, Räikkönen J, Petersen B, SIcheritz-Ponten T, Larson G, Orlando L, Marques-Bonet T, Hansen A, Dalén L, Gilbert MTP. 2017. The wolf reference genome sequence (Canis lupus lupus) and its implications for Canis spp. population genomics. BMC Genomics, in press.
  • Pujolar JM, Dalén L, R. Olsen RA, Hansen MM, Madsen J. 2017. First de novo whole genome sequencing and assembly of the pink-footed goose. Genomics, in press.
  • Van der Valk T, Durazo FL, Dalén L, Guschanski K. 2017. Whole mitochondrial genome capture from faecal samples and museum-preserved specimens. Molecular Ecology Resources, in press.
  • Brace S, Thomas JA, Dalén L, Burger J, MacPhee RDE, Barnes I, Turvey ST. 2016. Evolutionary history of the Nesophontidae, the last unplaced recent mammal family. Molecular Biology and Evolution, 33: 3095-3103.
  • Skoglund P, Ersmark E, Palkopoulou E, Dalén L. 2015. Ancient wolf genome reveals an early divergence of domestic dog ancestors and admixture into high-latitude breeds. Current Biology, 25: 1515–1519.
  • Palkopoulou E, Mallick S, Skoglund P, Enk J, Rohland N, Li H, Omrak A, Vartanyan S, Poinar H, Götherström A, Reich D, Dalén L. 2015. Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth. Current Biology, 25, 1395–1400.

Jochen Wolf

  • Poelstra JW, Vijay N, Bossu CM, Lantz H, Ryll B, Müller I, Baglione V, Unneberg P, Wikelski M, Grabherr MG, Wolf JB. (2014) The genomic landscape underlying phenotypic integrity in the face of gene flow in crows. Science, 344, 1410–1414.

  • Poelstra JW, Vijay N, Hoeppner MP, Wolf JBW (2015) Transcriptomics of colour patterning and coloration shifts in crows. Molecular Ecology, 24, 4617–4628.
  • Vijay N, Bossu CM, Poelstra JW, Weissensteiner MH, Suh A, Kryukov AP, Wolf JB. (2016) Evolution of heterogeneous genome differentiation across multiple contact zones in a crow species complex. Nature Communications, 7, 13195.

  • Weissensteiner MH, Pang AWC, Bunikis I, Höijer I, Vinnere-Petterson O, Suh A, Wolf JB. (2017) Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications. Genome Research, 27, 697–708.


The Cell Atlas

  •  Thul PJ, Åkesson L, Wiking M, Mahdessian D, Geladaki A,, Ait Blal H, Alm T, Asplund A, Björk L, Breckels LM,, Bäckström A, Danielsson F, Fagerberg L, Fall J, Gatto L,, Gnann C, Hober S, Hjelmare M, Johansson F, Lee S, Lindskog C, Mulder J, Mulvey CM, Nilsson P, Oksvold P, Rockberg J, Schutten R, Schwenk JM, Sivertsson Å, Sjöstedt E, Skogs M, Stadler C, Sullivan DP, Tegel H, Winsnes C, Zhang C, Zwahlen M, Mardinoglu A, Pontén F, von Feilitzen K, Lilley KS, Uhlén M, Lundberg E.  A subcellular map of the human proteome. (2017) A subcellular map of the human proteome. Science. 26;356(6340). pii: eaal3321. doi: 10.1126/science.aal3321. Epub 2017 May 11.

Marcela Pekna

  • Wilhelmsson U, Andersson D, de Pablo Y, Pekny R, Ståhlberg A, Mulder J, Mitsios N, Hortobágyi T, Pekny M, Pekna M. (2017) Injury Leads to the Appearance of Cells with Characteristics of Both Microglia and Astrocytes in Mouse and Human Brain. Cereb Cortex. 2017 Jun 1;27(6):3360-3377. doi: 10.1093/cercor/bhx069.