| MultiQC: summarize analysis results for multiple tools and samples in a single report P Ewels, M Magnusson, S Lundin, M Käller Bioinformatics 32 (19), 3047-3048, 2016 | 5252 | 2016 |
| Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development M Peyrard-Janvid, EJ Leslie, YA Kousa, TL Smith, M Dunnwald, ... The American Journal of Human Genetics 94 (1), 23-32, 2014 | 226 | 2014 |
| 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 | 151 | 2021 |
| 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 | 120 | 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 | 112 | 2015 |
| 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 |
| 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 |
| Risk of pancreatic cancer among individuals with hepatitis C or hepatitis B virus infection: a nationwide study in Sweden J Huang, M Magnusson, A Törner, W Ye, AS Duberg British journal of cancer 109 (11), 2917-2923, 2013 | 70 | 2013 |
| Association and Mutation Analyses of the IRF6 Gene in Families with Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate M Pegelow, H Koillinen, M Magnusson, I Fransson, P Unneberg, J Kere, ... The Cleft Palate-Craniofacial Journal 51 (1), 49-55, 2014 | 33 | 2014 |
| 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 | 26 | 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 | 24 | 2020 |
| Loqusdb: added value of an observations database of local genomic variation M Magnusson, J Eisfeldt, D Nilsson, A Rosenbaum, V Wirta, A Lindstrand, ... BMC bioinformatics 21, 1-10, 2020 | 5 | 2020 |
| PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network C Rasi, D Nilsson, M Magnusson, N Lesko, K Lagerstedt‐Robinson, ... Human Mutation 43 (6), 708-716, 2022 | 3 | 2022 |
| Chanjo: clincal grade sequence coverage analysis R Andeer, M Magnusson, A Wedell, H Stranneheim F1000Research 9, 615, 2020 | 2 | 2020 |
| Small area estimation of rare events: Estimating victimization rates in the Swedish Crime Survey M Magnusson Master thesis, Stockholms Universitet, 2011 | 2 | 2011 |
| Bioinformatic Methods in rare Disease Genomics M Magnusson PQDT-Global, 2021 | 1 | 2021 |
| Integration of genome sequencing into health care-experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities A Lindstrand, M Laaksonen, M Magnusson, V Wirta, A Wedell European Journal of Human Genetics 28 (SUPPL 1), 52-53, 2020 | 1 | 2020 |
| Loqusdb: the value of a local frequency database M Magnusson, J Eisfeldt, H Stranneheim, D Nilsson, A Lindsdtrand, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1719-1720, 2019 | | 2019 |
| The impact of serum bile acid levels on the mRNA expression of pro-and anticoagulant proteins in liver tissue M Magnusson, C Galman, B Fischler, E Beijer, H Arnell, A Nemeth, ... JOURNAL OF THROMBOSIS AND HAEMOSTASIS 13, 667-667, 2015 | | 2015 |
| Massively Parallel MHC-Typing by Sequencing RevealedNovel Variants of Canine Leukocyte Antigen M Dezfouli, M Magnusson, L Arvestad, H Lohi, D Van Asch, S Fain, ... | | 2015 |
Phil EwelsSeqera LabsVerified email at seqera.io
