| Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures T Stödberg, A McTague, AJ Ruiz, H Hirata, J Zhen, P Long, I Farabella, ... Nature communications 6 (1), 8038, 2015 | 159 | 2015 |
| Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients H Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ... Genome Medicine 13, 1-15, 2021 | 152 | 2021 |
| Increased throughput by parallelization of library preparation for massive sequencing S Lundin, H Stranneheim, E Pettersson, D Klevebring, J Lundeberg PloS one 5 (4), e10029, 2010 | 141 | 2010 |
| Stepping stones in DNA sequencing H Stranneheim, J Lundeberg Biotechnology journal 7 (9), 1063-1073, 2012 | 122 | 2012 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 121 | 2014 |
| Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2, 4–dihydroxybensoic acid C Freyer, H Stranneheim, K Naess, A Mourier, A Felser, C Maffezzini, ... Journal of medical genetics 52 (11), 779-783, 2015 | 113 | 2015 |
| Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy TB Haack, E Ignatius, J Calvo-Garrido, A Iuso, P Isohanni, C Maffezzini, ... The American Journal of Human Genetics 99 (3), 735-743, 2016 | 110 | 2016 |
| From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying … A Lindstrand, J Eisfeldt, M Pettersson, CMB Carvalho, M Kvarnung, ... Genome medicine 11, 1-23, 2019 | 109 | 2019 |
| Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders H Stranneheim, A Wedell Journal of internal medicine 279 (1), 3-15, 2016 | 107 | 2016 |
| Inheritance of acquired behaviour adaptations and brain gene expression in chickens D Nätt, N Lindqvist, H Stranneheim, J Lundeberg, PA Torjesen, P Jensen PloS one 4 (7), e6405, 2009 | 101 | 2009 |
| Classification of DNA sequences using Bloom filters H Stranneheim, M Käller, T Allander, B Andersson, L Arvestad, ... Bioinformatics 26 (13), 1595-1600, 2010 | 82 | 2010 |
| Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism H Stranneheim, M Engvall, K Naess, N Lesko, P Larsson, M Dahlberg, ... BMC genomics 15, 1-10, 2014 | 77 | 2014 |
| Intra-mitochondrial methylation deficiency due to mutations in SLC25A26 Y Kishita, A Pajak, NA Bolar, CMT Marobbio, C Maffezzini, DV Miniero, ... The American Journal of Human Genetics 97 (5), 761-768, 2015 | 69 | 2015 |
| Gene expression profiles in paired gingival biopsies from periodontitis-affected and healthy tissues revealed by massively parallel sequencing H Davanian, H Stranneheim, T Båge, M Lagervall, L Jansson, ... Public Library of Science 7 (9), e46440, 2012 | 63 | 2012 |
| Sun-induced nonsynonymous p53 mutations are extensively accumulated and tolerated in normal appearing human skin PL Ståhl, H Stranneheim, A Asplund, L Berglund, F Pontén, J Lundeberg Journal of investigative dermatology 131 (2), 504-508, 2011 | 61 | 2011 |
| SQSTM1/p62-directed metabolic reprogramming is essential for normal neurodifferentiation J Calvo-Garrido, C Maffezzini, FA Schober, P Clemente, E Uhlin, M Kele, ... Stem cell reports 12 (4), 696-711, 2019 | 47 | 2019 |
| Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs BW Solnestam, H Stranneheim, J Hällman, M Käller, E Lundberg, ... BMC genomics 13, 1-9, 2012 | 45 | 2012 |
| Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: a population‐based study T Stödberg, T Tomson, M Barbaro, H Stranneheim, BM Anderlid, ... Epilepsia 61 (11), 2486-2499, 2020 | 31 | 2020 |
| High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses A Hammarsjö, M Pettersson, D Chitayat, A Handa, BM Anderlid, ... Journal of Human Genetics 66 (10), 995-1008, 2021 | 27 | 2021 |
| SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia T Stödberg, M Magnusson, N Lesko, A Wredenberg, D Martin Munoz, ... Neurology: Genetics 6 (4), e478, 2020 | 26 | 2020 |
