| A universal method to produce in vitro transcripts with homogeneous 3′ ends H Schürer, K Lang, J Schuster, M Mörl Nucleic acids research 30 (12), e56-e56, 2002 | 178 | 2002 |
| Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure MR Mansouri, J Schuster, J Badhai, EL Stattin, R Lösel, M Wehling, ... Human molecular genetics 17 (23), 3776-3783, 2008 | 165 | 2008 |
| A single-nucleotide deletion in the POMP 5′ UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis J Dahlqvist, J Klar, N Tiwari, J Schuster, H Törmä, J Badhai, R Pujol, ... The American Journal of Human Genetics 86 (4), 596-603, 2010 | 99 | 2010 |
| A combined approach for single-cell mRNA and intracellular protein expression analysis J Reimegård, M Tarbier, M Danielsson, J Schuster, S Baskaran, ... Communications biology 4 (1), 624, 2021 | 95 | 2021 |
| WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl European journal of human genetics 17 (12), 1600-1605, 2009 | 82 | 2009 |
| 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 | 80 | 2011 |
| Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6 MBC Kilander, J Petersen, KW Andressen, RS Ganji, FO Levy, J Schuster, ... The FASEB Journal 28 (5), 2293-2305, 2014 | 76 | 2014 |
| Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms J Schuster, J Sundblom, AC Thuresson, S Hassin-Baer, T Klopstock, ... Neurogenetics 12, 65-72, 2011 | 71 | 2011 |
| Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary … J Schuster, T Karlsson, PO Karlström, IS Poromaa, N Dahl Reproductive Biology and Endocrinology 8, 1-6, 2010 | 67 | 2010 |
| Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage J Klar, J Piontek, S Milatz, M Tariq, M Jameel, T Breiderhoff, J Schuster, ... PLoS Genetics 13 (7), e1006897, 2017 | 63 | 2017 |
| Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond–Blackfan anemia J Badhai, AS Fröjmark, EJ Davey, J Schuster, N Dahl Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (10 …, 2009 | 56 | 2009 |
| An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis M Shahsavani, RJ Pronk, R Falk, M Lam, M Moslem, SB Linker, J Salma, ... Molecular psychiatry 23 (7), 1674-1684, 2018 | 53 | 2018 |
| 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, 7113-7127, 2019 | 47 | 2019 |
| A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia M Rasool, J Schuster, M Aslam, M Tariq, I Ahmad, A Ali, M Entesarian, ... Journal of human genetics 53 (10), 894-898, 2008 | 43 | 2008 |
| 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 | 40 | 2019 |
| U1-like snRNAs lacking complementarity to canonical 5′ splice sites C Kyriakopoulou, P Larsson, L Liu, J Schuster, F Söderbom, LA Kirsebom, ... Rna 12 (9), 1603-1611, 2006 | 37 | 2006 |
| 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), 12170, 2016 | 32 | 2016 |
| Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency J Badhai, AS Fröjmark, HR Razzaghian, E Davey, J Schuster, N Dahl FEBS letters 583 (12), 2049-2053, 2009 | 29 | 2009 |
| Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions M Kele, K Day, H Rönnholm, J Schuster, N Dahl, A Falk Stem Cell Research 17 (3), 474-478, 2016 | 25 | 2016 |
| 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 | 25 | 2015 |
Dahl N在 igp.uu.se 的电子邮件经过验证
