Dahl N

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications.

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

Elife 12 (-) - [2024-08-27; online 2024-08-27]

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster J, Lu X, Dang Y, ..., Dahl N, Chen X

Elife 12 (-) - [2024-08-27; online 2024-08-27]

A combined approach for single-cell mRNA and intracellular protein expression analysis.

Reimegård J, Tarbier M, Danielsson M, ..., Friedländer MR, Gallant CJ

Commun Biol 4 (1) 624 [2021-05-25; online 2021-05-25]

DDLS Fellow Marc Friedländer Marcel Tarbier SciLifeLab Fellow

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

Akram T, Fatima A, Klar J, ..., Schuster J, Dahl N

Int J Hematol 112 (6) 894-899 [2020-12-00; online 2020-08-09]

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.

Laan L, Klar J, Sobol M, ..., Schuster J, Dahl N

Clin Epigenetics 12 (1) 9 [2020-01-08; online 2020-01-08]

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

Sobol M, Klar J, Laan L, ..., Falk A, Dahl N

Mol. Neurobiol. 56 (10) 7113-7127 [2019-10-00; online 2019-04-13]

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Zakaria M, Fatima A, Klar J, ..., Baig SM, Dahl N

Hum. Mutat. 40 (7) 899-903 [2019-07-00; online 2019-05-24]

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Höijer I, Tsai YC, Clark TA, ..., Gyllensten U, Ameur A

Hum. Mutat. 39 (9) 1262-1272 [2018-09-00; online 2018-07-12]

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Ali Z, Zulfiqar S, Klar J, ..., Baig S, Dahl N

BMC Med. Genet. 18 (1) 144 [2017-12-06; online 2017-12-06]