Publikationer

Publikationer i DiVA (Niklas Dahl)
Publikationer i PubMed (Niklas Dahl)

Utvalda Publikationer 

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 Dec 5;371:105-111. doi:10.1016/j.jns.2016.10.032. Epub 2016 Oct 21. PubMed PMID: 27871429.

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 Nov;17(3):474-478. doi:10.1016/j.scr.2016.09.028. Epub 2016 Sep 30. PubMed PMID: 27789397.

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 Oct;17(5):327-37. doi: 10.1089/cell.2015.0009. Epub 2015 Sep 8.
PubMed PMID: 26348590.

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 Sep;52(9):599-606. doi: 10.1136/jmedgenet-2014-102931. Epub 2015 Jul 3. PubMed PMID: 26142438.

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 Sep 1;24(17):2032-40. doi:10.1089/scd.2015.0061.
Epub 2015 May 18. PubMed PMID: 25867454.

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 Dec;23(12):1679-83. doi: 10.1038/ejhg.2015.49. Epub 2015 Mar 18. PubMed PMID: 25782675; PubMed Central PMCID: PMC4795199.

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 May 25;563(1):10-6. doi: 10.1016/j.gene.2015.02.022. Epub 2015 Feb 11. PubMed PMID: 25681523.

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 Mar;52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. PubMed PMID: 25612909.

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 Dec 14;15:133. doi: 10.1186/s12881-014-0133-2. PubMed PMID: 25496299; PubMed Central PMCID: PMC4292821.

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 Aug;133(8):1990-7. doi:10.1038/jid.2013.84. Epub 2013 Feb 25. PubMed PMID: 23439395; PubMed Central PMCID: PMC3695035.

11: Klar J, Sobol M, Melberg A, Mäbert K, Ameur A, Johansson AC, Feuk L, Entesarian M, Orlén H, Casar-Borota O, Dahl N. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum Mutat. 2013 Apr;34(4):572-7. doi: 10.1002/humu.22282. PubMed PMID: 23348830.

12: Pijuan-Galitó S, Tamm C, Schuster J, Sobol M, Forsberg L, Merry CL, Annerén C. Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture. Nat Commun. 2016 Jul 13;7:12170. doi: 10.1038/ncomms12170. PubMed PMID: 27405751; PubMed Central PMCID: PMC4947164.

13: Schuster J, Khan TN, Tariq M, Shaiq PA, Mäbert K, Baig SM, Klar J. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet. 2014 Jun 24;15:71. doi: 10.1186/1471-2350-15-71. PubMed PMID: 24961962; PubMed Central PMCID: PMC4076434.