Publications Niklas Dahl

Publications in DiVA (Niklas Dahl)
Publications in PubMed (Niklas Dahl)

Selected Publications

  1. Schuster J, Laan L, Klar J, Jin Z, Huss M, Korol M, Noraddin FH, Sobol M, Birnir B, Dahl N. Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulation of pathways for chromatin remodeling and neurodevelopment. Neurobiol Dis 2019, 132:104583.
     
  2. Schuster J, Fatima A, Schwarz F, Klar J, Laan L, Dahl N. Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations. Stem Cell Res. 2019, 38:101474.
     
  3. Sobol M, Klar J, Laan L, Mansoureh S, Schuster J, Annerén G, Berquist J, Nordlund J, Hoeber J, Huss M, Falk A, Dahl N. Transcriptome and proteome profiling of neural induced pluripotent stem cells from individuals with Down syndrome discloses dynamic dysregulations of key pathways and cellular functions. Mol Neurobiol, 2019, 56(10):7113-7127.
     
  4. Zakaria M, Fatima A, Klar J, Wikström J, Abdullah U, Ali Z, Akram T, Tariq M, Ahmad H, Baig SM, Dahl N. Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi-allelic skipping of RTTN exon 42. Hum Mut, 2019, 40(7):899-903.
     
  5. Shahsavani M, Pronk R, Falk R, Lam M, Linker S, Salma J, Day K, Schuster J, Anderlid BM, Dahl N, Gage F, Falk A. An in vitro model of Lissencephaly: Expanding the Role of DCX During Neurogenesis. Mol Psychiatry, 2018, 23:1674-1684.
     
  6. Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N. Stereocilin gene variants associated with episodic vertigo: Expansion of the DFNB16 phenotype. Eur J Hum Genet. 2018, 26:1871-1874.
     
  7. Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study. De novo sequence and copy number variants are strongly associated with Tourette disorder and implicate cell polarity in pathogenesis. Cell Rep 2018, 24: 3541-3454.
     
  8. Klar J, Piontek J, Milatz S, Tariq M, Jameel M, Breiderhoff T, Schuster J, Fatima A, Asif M, Sher M, Mäbert M, Fromm A, Baig SM, Günzel D, Dahl N. Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. PloS Genetics, 2017, 13:e1006897.
     
  9. Klar J, Ali Z, Farooq M, Khan K, Wikström J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N. A missense mutation in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. Eur J Hum Genet, 2017, 25:848-853.
     
  10. Kele M, Day K, Rönnholm K, Schuster J, Dahl N, Falk A. Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions. Stem Cell Res, 2016, 17:474-478.