| Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing J Klar, M Sobol, A Melberg, K Mäbert, A Ameur, ACV Johansson, L Feuk, ... Human mutation 34 (4), 572-577, 2013 | 109 | 2013 |
| Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ... The American Journal of Human Genetics 88 (6), 852-860, 2011 | 77 | 2011 |
| Transcriptome and proteome profiling of neural induced pluripotent stem cells from individuals with Down syndrome disclose dynamic dysregulations of key pathways and cellular … M Sobol, J Klar, L Laan, M Shahsavani, J Schuster, G Annerén, A Konzer, ... Molecular neurobiology 56 (10), 7113-7127, 2019 | 43 | 2019 |
| Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment J Schuster, L Laan, J Klar, Z Jin, M Huss, S Korol, FH Noraddin, M Sobol, ... Neurobiology of disease 132, 104583, 2019 | 39 | 2019 |
| FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome M Sobol, N Dahl, J Klar BMC research notes 4 (1), 1-4, 2011 | 39 | 2011 |
| Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture S Pijuan-Galitó, C Tamm, J Schuster, M Sobol, L Forsberg, CLR Merry, ... Nature communications 7 (1), 1-12, 2016 | 30 | 2016 |
| Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture S Pijuan-Galitó, C Tamm, J Schuster, M Sobol, L Forsberg, CLR Merry, ... Nature Communications 7, 0 | 30 | |
| Transcriptome profiling reveals degree of variability in induced pluripotent stem cell lines: impact for human disease modeling J Schuster, J Halvardson, L Pilar Lorenzo, A Ameur, M Sobol, D Raykova, ... Cellular Reprogramming (Formerly" Cloning and Stem Cells") 17 (5), 327-337, 2015 | 24 | 2015 |
| Methods of reprogramming to induced pluripotent stem cell associated with chromosomal integrity and delineation of a chromosome 5q candidate region for growth advantage M Sobol, D Raykova, L Cavelier, A Khalfallah, J Schuster, N Dahl Stem cells and development 24 (17), 2032-2040, 2015 | 21 | 2015 |
| DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors L Laan, J Klar, M Sobol, J Hoeber, M Shahsavani, M Kele, A Fatima, ... Clinical epigenetics 12 (1), 1-14, 2020 | 19 | 2020 |
| Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations J Schuster, A Fatima, M Sobol, FH Norradin, L Laan, N Dahl Stem cell research 39, 101523, 2019 | 11 | 2019 |
| Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 A Fatima, J Schuster, T Akram, M Sobol, J Hoeber, N Dahl Stem Cell Research, 101758, 2020 | 7 | 2020 |
| Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant J Schuster, M Sobol, A Fatima, A Khalfallah, L Laan, BM Anderlid, ... Stem cell research 39, 101518, 2019 | 6 | 2019 |
| Methods of reprogramming to iPSC associated with chromosomal integrity and delineation of a chromosome 5q candidate region for growth advantage M Sobol, D Raykova, L Cavelier, A Khalfallah, J Schuster, N Dahl Stem Cells Dev 24, 2032-2040, 2015 | 4 | 2015 |
| Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46, XY background using CRISPR/Cas9 A Fatima, J Schuster, T Akram, CM González, M Sobol, J Hoeber, N Dahl Stem Cell Research 44, 101739, 2020 | | 2020 |
| Proximal Deletion 12q with a New Insight to Growth Retardation M Sobol, AC Thuresson, N Palmberg, CS Zander Molecular Syndromology 11 (3), 115-124, 2020 | | 2020 |
| Down syndrome-iPSC neurogenesis connects differential methylation to dysregulated gene expression L Laan, J Klar, M Sobol, J Hoeber, M Zakaria, G Anneren, A Falk, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1501-1502, 2019 | | 2019 |
| Single cell sequencing of iPSC neural cells from Down syndrome patients uncovers perturbed cell differentiation J Klar, J Schuster, M Sobol, L Laan, A Fatima, G Anneren, N Dahl EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1429-1429, 2019 | | 2019 |
| Modeling early neuropathology in Down syndrome and APP-associated Alzheimer's disease using Induced Pluripotent Stem Cells J Klar, J Schuster, L Laan, M Sobol, LP Lorenzo, J Nordlund, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 366-366, 2018 | | 2018 |
| Delineation of the critical region for proximal deletion of chromosome 12q M Sobol, AC Thuresson Molecular Cytogenetics 10 (S1), 2017 | | 2017 |
