Måns Magnusson

Måns Magnusson

Science for Life Laboratory - Solna / Sweden
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4687191
person_outline Måns Magnusson's MOST POPULAR ARTICLES
1-) 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 28672016
2-) 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 1912014
3-) Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsH Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ...Genome Medicine 13 (1), 1-15, 20211182021
4-) 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, 20191292019
5-) An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...Genome biology 15, 1-18, 20141272014