Publications Niklas Dahl

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

Selected Publications

  1. Ali Z, Klar J, Jameel M, Khan K, Fatima A, Raininko R, Baig S, Dahl N. Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. J Neurol Sci. 2016, 371:105-111.
     
  2. Kele M, Day K, Rönnholm H, 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(3):474-478.
     
  3. Schuster J, Halvardson J, Pilar Lorenzo L, Ameur A, Sobol M, Raykova D, Annerén G, Feuk L, Dahl N. Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling. Cell Reprogram. 2015, 7(5):327-37.
     
  4. Klar J, Schuster J, Khan TN, Jameel M, Mäbert K, Forsberg L, Baig SA, Baig SM, Dahl N. Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet. 2015, 52(9):599-606.
     
  5. Sobol M, Raykova D, Cavelier L, Khalfallah A, Schuster J, Dahl N. Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage. Stem Cells Dev. 2015, 24(17):2032-40.
     
  6. Klar J, Raykova D, Gustafson E, Tóthová I, Ameur A, Wanders A, Dahl N. Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. Eur J Hum Genet. 2015, 3(12):1679-83.
     
  7. Frykholm C, Klar J, Arnesson H, Rehnman AC, Lodahl M, Wedén U, Dahl N, Tranebjærg L, Rendtorff ND. Phenotypic  ariability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. Gene. 2015, 563(1):10-6.
     
  8. Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. MuSK:  a new target for lethal fetal akinesia deformation sequence (FADS). J Med Genet. 2015, 52(3):195-202.
     
  9. Jameel M, Klar J, Tariq M, Moawia A, Altaf Malik N, Seema Waseem S, Abdullah U, Naeem Khan T, Raininko R, Baig  SM, Dahl N. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion  of AP-4 deficiency. BMC Med Genet. 2014, 15:133.
     
  10. Cui CY, Klar J, Georgii-Heming P, Fröjmark AS, Baig SM, Schlessinger D, Dahl N. Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol. 2013, 133(8):1990-7.